Materiały źródłowe

• #1 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Androgen insensitivity syndrome (AIS) is a rare, inherited, sexual development disorder. People with AIS are genetically male, but dont develop male external genitals because their bodies cant respond to male sex hormones. AIS can cause problems during puberty, as well as infertility. […] AIS prevents male genitals from developing as they should. It almost always results in infertility during adulthood. […] The most common symptom across all forms of AIS is infertility. People with CAIS wont be able to get pregnant or make their partners pregnant. They have genitals that appear female, but they dont have female reproductive organs. Its very rare for people with PAIS or MAIS to make their partners pregnant. Even if they have a very small penis, sperm production is usually low or non-existent.

• #2 Androgen insensitivity syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/

  Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition have one X chromosome and one Y chromosome in each cell. In people with androgen insensitivity syndrome, the body’s cells and tissues are unable to respond to certain male sex hormones (called androgens) that are important for normal male sexual development before birth and during puberty. As a result, affected individuals may have external sex characteristics that are typical for females or have features of both male and female sexual development. […] Complete androgen insensitivity syndrome occurs when the body does not respond to androgens at all. People with this form of the condition have external sex characteristics that are typical of females. Affected individuals do not have a uterus. They have male internal sex organs (testes) that are undescended, which means they are located in the pelvis or abdomen instead of outside the body. As such, affected individuals do not menstruate and are unable to conceive a child (infertile). People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms.

• #3 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542206/

  Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders and results in varying phenotypes. […] Untreated or inadequately managed, AIS may result in severe psychological distress in patients as they go through puberty into adulthood and their families at the same time. […] The phenotypic spectrum of AIS depends on the residual androgen receptor activity and encompasses individuals with a completely female phenotype to male phenotype with infertility/undervirilization. […] Androgen resistance results in complete androgen insensitivity syndrome (CAIS), characterizing XY sex reversal with normal female phenotype, whereas phenotype diversity is variable with residual androgen receptor activity, which leads to partial androgen insensitivity syndrome (PAIS).

• #4 Androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome

  AIS is divided into three categories that are differentiated by the degree of genital masculinization: Mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are those of a typical male (a penis and a scrotum); Partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized; Complete androgen insensitivity syndrome (CAIS) is indicated when the external genitalia are those of a typical female (a vulva). […] Management of AIS is currently limited to symptomatic management; no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. Areas of management include sex assignment, genitoplasty, gonadectomy to reduce tumor risk, hormone replacement therapy, genetic counseling, and psychological counseling.

• #5

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/symptoms/

  Babies with androgen insensitivity syndrome (AIS) will have XY (usual male pattern) chromosomes. Their external genitals will either appear as female or have an appearance that is not usual for a boy or girl. […] The first signs usually begin at puberty, which starts at around the age of 11 or 12. […] When a girl with CAIS reaches puberty, she will: develop breasts and have growth spurts as normal, although she may end up slightly taller than usual for a girl; not start having periods; develop little or no pubic and underarm hair. […] Girls with CAIS do not have a womb or ovaries, so are unable to get pregnant. Their vagina will also be shorter than normal, which may make some sexual acts difficult. […] In many cases, the genitalia at birth is the first sign and affected babies may have: an enlarged clitoris (the sexual organ that allows women to have an orgasm); partially undescended testicles; hypospadias where the hole through which urine passes out of the body is on the underside of the penis, rather than at the end. […] Children with PAIS are often raised as boys, although they will continue to have a small penis and may develop some breast tissue at puberty. […] Like those with CAIS, people with PAIS do not have a womb or ovaries. They may produce no or very little sperm.

• #6 Androgen Insensitivity Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/androgen-insensitivity-syndrome

  Infants with complete androgen insensitivity syndrome appear to be female at birth, but do not have a uterus, fallopian tubes or ovaries. Their testicles are hidden inside the pelvis or abdomen. Breasts develop during puberty, but there is little or no pubic and armpit hair. Babies born with complete androgen insensitivity syndrome are typically raised as girls and have a female gender identity. In many cases, they aren’t diagnosed until adolescence or later, when they fail to menstruate or are unable to get pregnant. […] Babies born with partial androgen insensitivity syndrome may have sexual characteristics that are typical of a male, a female, or both. They may have a partial closing of the outer vagina, an enlarged clitoris and a short vagina. They may be raised as males or as females and have a male or female gender identity.

• #7

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/

  Androgen insensitivity syndrome (AIS) affects the development of a person’s genitals and reproductive organs. […] The genitals of a person with CAIS appear female. […] The genitals of a person with PAIS may appear as female or male. Sometimes PAIS is discovered because a baby’s genitals are not as expected for a baby boy or baby girl. […] The sex development of people with AIS means they are usually unable to become pregnant or make their partner pregnant. […] CAIS can be more difficult to spot, as the genitals usually look like those of any other girl. It’s often not diagnosed until puberty, when periods do not start and pubic and underarm hair does not develop. […] Most children with CAIS are raised as girls.

• #8 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #9 Androgen Insensitivity | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/androgen-insensitivity

  Possible symptoms of androgen sensitivity include: […] Girls and women with androgen insensitivity have normal external genitalia, namely, a lower vagina, labia, clitoris, and urethra. […] Girls with androgen insensitivity look like normal females and go through puberty and normal breast development, but because their bodies cannot use testosterone, they will have scant or no pubic and armpit hair. […] The outlook for a child with androgen insensitivity is good if at-risk testicle tissue is removed at the proper time. Women with androgen insensitivity won’t be able to give birth to a child, because they don’t have internal reproductive organs.

• #10 Androgen Insensitivity Syndrome (AIS): Symptoms, Stigma, and Treatment

  https://www.healthline.com/health/androgen-insensitivity-syndrome

  AIS is an intersex variation found in males who are resistant to the effects of male sex hormones. Sometimes symptoms may not manifest until puberty, and they may not always need treatment. […] Androgen insensitivity syndrome, or AIS, is a variation of sex development that causes intersex traits in males. AIS can cause changes in the way a persons external genitals appear, as well as changes to ones internal reproductive organs. […] CAIS often remains undiagnosed until puberty. This is when symptoms typically appear as the result of absent or underdeveloped reproductive organs. […] Symptoms of CAIS may include: no menstrual periods, lack of pubic hair, lack of armpit hair, taller height than usual. […] Symptoms of PAIS might include: abnormally large clitoris, fused labia, undescended testes, underdeveloped penis, changes in the location of the urethra, enlarged breasts (gynecomastia) in puberty, moderate pubic hair, lack of facial or body hair.

• #11 Androgen insensitivity syndrome | Lima Memorial Health System

  https://www.limamemorial.org/health-library/hie%20multimedia-textonly/1/001180

  Androgen insensitivity syndrome (AIS) is when a person who has one X and one Y chromosome (typically seen in males) is resistant to hormones that produce a male appearance (called androgens). As a result, the person has some of the physical traits of a female, but the genetic makeup of a male. […] A person with CAIS appears to be female but has no uterus, no fallopian tubes, or ovaries. They have very little armpit and pubic hair. At puberty, female sex characteristics (such as breasts) develop. However, the person does not menstruate or become fertile. […] People with PAIS may have both male and female physical characteristics (ambiguous genitalia). These characteristics vary from person to person. […] A person with MAIS has male genitals and may have: Breast development, Little body hair, A small penis. […] Androgens are most important during early development in the womb. People with AIS can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. […] Complications include: Infertility, Psychological and social issues, Testicular cancer.

• #12 Orphanet: Complete androgen insensitivity syndrome

  https://www.orpha.net/en/disease/detail/99429

  Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. […] The typical presentation is primary amenorrhea in an adolescent female. CAIS may also present in infancy or childhood with an inguinal hernia or labial swelling containing a testis. Breast development at puberty is normal, but pubic and axillary hair is absent or scanty. The external genitalia are normal female but internal female genitalia are absent. Adult patients are tall. Other presentations may be serendipitous from a mismatch in prenatal sexing (XY) and birth female phenotype, history of an inguinal hernia repair in an older sister, or development of a pelvic tumor in later adult life.

• #13 Complete Androgen Insensitivity Syndrome: From Bench to Bed

  https://www.mdpi.com/1422-0067/22/3/1264

  Females with CAIS present with a normal external female phenotype in girls and women with a 46,XY karyotype and normally functioning testes. Psychosexual development is in agreement with female sex. The internal genitalia are absent (“empty pelvis syndrome”) due to the normal action of the anti-Müllerian hormone (AMH) produced by Sertoli cells before birth, which causes regression of the Müllerian structures (uterus, cervix and proximal vagina). Moreover, Wolffian structures do not differentiate because of testosterone resistance. The testes can be in the abdomen, in the inguinal canal or in the labia majora, causing a bilateral inguinal hernia or labial swelling. These findings are the most frequent clinical signs to suspect CAIS in prepubertal girls. Audi et al. reported inguinal hernia in 47.8% of their sample as a cause for medical advice. Nearly 57% of the CAIS population presented with an inguinal hernia in the U.K. series. In our experience, an inguinal hernia was the cause for referral in more than 30% of cases (17/53). The incidence of inguinal hernias in the pediatric population is 1–4% with a clear prevalence in males (10:1). Thus, karyotypes should be performed in all girls with a mono- or bilateral inguinal hernia. At puberty, there is normal breast development and a typical female distribution of adipose tissue due to androgens being aromatized to estrogens. However, pubic and axillary hair is usually absent or may be scanty. The vagina has a blind bottom, with a length ranging from 2.5 to 8 cm; it is usually adequate for sexual intercourse. Primary amenorrhea, owing to the absence of a uterus, represents the second main reason for medical consultation.

• #14 Androgen Insensitivity: Symptoms, Causes, and Treatment

  https://www.verywellhealth.com/androgen-insensitivity-4173975

  They also do not have pubic or underarm hair, because the growth of this hair is controlled by testosterone. They may be taller than other girls but generally have normal breast development. […] The symptoms of partial androgen insensitivity are more variable. At the time of birth, individuals may have genitals that appear almost completely female to almost normally male. They can also appear anywhere in between. Symptoms of PAIS in individuals who are characterized as males at the time of birth include: Micropenis, Hypospadias: a urethral opening midway up the penis rather than at the tip. This is a common birth defect, affecting one out of 150 to 300 male births. Cryptorchidism: where the testicles have few or no germ cells. Individuals with cryptorchidism are more susceptible to testicular cancers. Breast growth during puberty.

• #15 What Is Complete Androgen Insensitivity?

  https://www.icliniq.com/articles/endocrine-diseases/complete-androgen-insensitivity

  An individual affected by the complete androgen insensitivity syndrome is generally born structurally as a female. But the symptoms of this condition do not reflect until puberty. Mentioned below are the symptoms of complete androgen insensitivity: […] Infants born with this condition will be born female, but they will lack a uterus, fallopian tubes, and ovaries. […] Absence of menstruation even after the age of puberty. […] Absent terminal hair. […] Development of breasts at the age of puberty. […] Normal external genitalia with underdeveloped labia and clitoris. […] Vaginal depth is less than that of an unaffected female. […] Absence of ovaries and presence of atrophic testes. […] Failure of one or both testes to descend into the scrotum. […] Little to no pubic hair and underarm hair. […] The vagina ends blindly into a pouch. […] Longer limbs. […] Larger hands, feet, and teeth.

• #16 Complete Androgen Insensitivity Syndrome (CAIS) : University College London Hospitals NHS Foundation Trust

  https://www.uclh.nhs.uk/patients-and-visitors/patient-information-pages/complete-androgen-insensitivity-syndrome-cais

  Some people with CAIS prefer to have their gonads removed to lower their cancer risk. […] Hormone replacement treatment (HRT) is essential to keep someone healthy and well if they have had surgery to remove their gonads (gonadectomy). […] Without these hormones they’ll be at increased future risk of osteoporosis (weak bones that can easily break) and heart disease. […] Usually people with CAIS will have a short vagina (this can be a few cm in length) or vaginal dimple (a small depression where the vaginal entrance would be). […] This means that CAIS can affect how someone can have sex; specifically, whether they can have vaginal sex. […] Having CAIS means that there are different routes to become a parent. […] Someone with CAIS is born without a womb and therefore they cannot carry a pregnancy. […] Their gonads are not able to produce mature gametes (sex cells needed for pregnancy; sperm or eggs are gametes).

• #17 What is Morris Syndrome? – Causes, Symptoms, and Treatments

  https://www.invitra.com/en/morris-syndrome/

  People with AIS have female sexual characteristics and are therefore considered to be women. However, they do not have a uterus or ovaries, and they discover that they suffer from this genetic alteration due to the absence of menstruation when they reach puberty. As a consequence of this, these women will also be sterile. […] In general, no symptom of AIS is suspected during these girls’ childhood. However, once puberty is reached, the lack of menarche (first period) makes one suspect that something is not right. Other characteristics and physical features of Morris syndrome include the following: Little armpit and pubic hair. The labia majora and labia minora of the female genitals may be smaller. Short vagina with blind termination. Absence of uterus, fallopian tubes and ovaries. Undescended atrophied testicles, in the groin region, abdomen, or labia majora. Normal breast development. Narrow hips and tall stature. Decreased bone density. […] Since they do not have a uterus or ovaries, these women cannot have a pregnancy or a biological child. Their reproductive options to become mothers will be adoption or surrogacy with egg donation.

• #18

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/symptoms/

  Babies with androgen insensitivity syndrome (AIS) will have XY (usual male pattern) chromosomes. Their external genitals will either appear as female or have an appearance that is not usual for a boy or girl. […] The first signs usually begin at puberty, which starts at around the age of 11 or 12. […] When a girl with CAIS reaches puberty, she will: develop breasts and have growth spurts as normal, although she may end up slightly taller than usual for a girl; not start having periods; develop little or no pubic and underarm hair. […] Girls with CAIS do not have a womb or ovaries, so are unable to get pregnant. Their vagina will also be shorter than normal, which may make some sexual acts difficult. […] In many cases, the genitalia at birth is the first sign and affected babies may have: an enlarged clitoris (the sexual organ that allows women to have an orgasm); partially undescended testicles; hypospadias where the hole through which urine passes out of the body is on the underside of the penis, rather than at the end. […] Children with PAIS are often raised as boys, although they will continue to have a small penis and may develop some breast tissue at puberty. […] Like those with CAIS, people with PAIS do not have a womb or ovaries. They may produce no or very little sperm.

• #19 Androgen insensitivity syndrome

  https://adamcertificationdemo.adam.com/content.aspx?productid=141&pid=1&gid=001180

  Androgen insensitivity syndrome (AIS) is when a person who has one X and one Y chromosome (typically seen in males) is resistant to hormones that produce a male appearance (called androgens). As a result, the person has some of the physical traits of a female, but the genetic makeup of a male. […] Symptoms: A person with CAIS appears to be female but has no uterus, no fallopian tubes, or ovaries. They have very little armpit and pubic hair. At puberty, female sex characteristics (such as breasts) develop. However, the person does not menstruate or become fertile. […] People with PAIS may have both male and female physical characteristics (ambiguous genitalia). These characteristics vary from person to person. […] A person with MAIS has male genitals and may have: Breast development, Little body hair, A small penis. […] Androgens are most important during early development in the womb. People with AIS can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. […] Possible complications include: Infertility, Psychological and social issues, Testicular cancer.

• #20 Androgen Insensitivity Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1429/

  Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. […] The diagnosis of AIS is established in an individual with a 46,XY karyotype who has: undermasculinization of the external genitalia, impaired spermatogenesis with otherwise normal testes, absent or rudimentary mullerian structures, evidence of normal or increased synthesis of testosterone and its normal conversion to dihydrotestosterone, and normal or increased luteinizing hormone (LH) production by the pituitary gland; AND/OR a hemizygous pathogenic variant in AR identified by molecular genetic testing. […] Individuals with CAIS have normal female external genitalia with absence of female internal genitalia. They typically present either before puberty with masses in the inguinal canal that are subsequently identified as testes or at puberty with primary amenorrhea and sparse to absent pubic or axillary hair.

• #21 Atypical genitalia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/symptoms-causes/syc-20369273

  Your medical team will likely be the first to notice atypical genitalia soon after your baby is born. […] Atypical genitalia can vary in appearance. Differences may depend on when during genital development the hormone changes that affected development occurred and the cause. […] Babies who are genetically female, which means they have two X chromosomes, may have: An enlarged clitoris, which may look like a penis. Closed labia, or labia that include folds and look like a scrotum. Lumps that feel like testicles in the fused labia. […] Babies who are genetically male, which means they have one X and one Y chromosome, may have: A condition in which the narrow tube that carries urine and semen, called the urethra, doesn’t fully extend to the tip of the penis. If the tube opening is on the underside of the penis, the condition is called hypospadias. A very small penis with the urethral opening closer to the scrotum. One or both testicles missing in what appears to be the scrotum. Testicles that remain in the body, also called undescended testicles, and an empty scrotum that has the appearance of labia with or without a micropenis.

• #22 Pediatric androgen insensitivity syndrome (AIS) – Children’s Health Dallas and Plano

  https://www.childrens.com/specialties-services/conditions/androgen-insensitivity-syndrome

  Androgen insensitivity syndrome is an example of disorders of sex development (DSD). Symptoms may not be noted until puberty and may include: A short vagina (blind pouch), but no cervix or uterus (found upon pelvic exam/ultrasound) […] No menstrual cycle, due to an absent uterus […] Normal breast development with little or no pubic and armpit hair […] No acne during puberty […] Hernias or lumps in the groin or abdomen (which are actually testes) […] An inguinal hernia with testes that can be felt during a physical examination […] Testes in the abdomen […] External genitals that aren’t clearly male or female (ambiguous genitalia), in the case of partial or incomplete androgen insensitivity. Complete androgen insensitivity is typically discovered at puberty, when a girl fails to start having periods or doesn’t develop pubic or underarm hair. Partial androgen insensitivity is usually discovered when the baby is born because the external genitals aren’t clearly male or female (ambiguous genitalia).

• #23 Androgen Insensitivity Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17524

  Androgen insensitivity syndrome may subclassify in the form of the following clinical entities: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS. […] CAIS will present very commonly as primary amenorrhea in adolescent females or incidental finding of testes in females undergoing inguinal hernia repair. Physical examination reveals a female phenotype at birth, which will be a mismatch from the results of prenatal fetal sexing (Y chromosome on DNA analysis). The vagina is blind-ending with no uterus. Gonads are present in the lower abdomen or inguinal canal. At puberty, with the normal growth spurt, there is breast development secondary to the conversion of androgens to estrogens and a taller female phenotype secondary to the effect of the Y chromosome.

• #24 Androgen Insensitivity Syndrome: Symptoms, Diagnosis, and Treatment – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/androgen-insensitivity-syndrome-symptoms-diagnosis-and-treatment/

  Amenorrhea, or the absence of menstruation, occurs in 100% of individuals with CAIS. Despite having female external genitalia, individuals with AIS do not have a uterus or ovaries, which are necessary for menstruation. In PAIS, amenorrhea may also occur, but some individuals may have partial menstrual cycles depending on the degree of androgen insensitivity and the presence of reproductive organs. […] Infertility is common in individuals with AIS, occurring in nearly all cases. Individuals with CAIS lack functional reproductive organs such as ovaries or a uterus, making natural conception impossible. In PAIS, fertility may be reduced or absent depending on the degree of androgen insensitivity and the development of reproductive organs. […] Individuals with AIS often have normal or elevated testosterone levels, occurring in nearly all cases. The testes produce testosterone as they would in a typical male, but the body cannot respond to it due to androgen receptor dysfunction.

• #25 Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

  https://www.mdpi.com/1660-4601/16/7/1268

  Patients with CAIS have normal female external genitalia with a 46, XY karyotype and undescended testes due to complete unresponsiveness towards androgen action. […] In patients with CAIS, puberty typically appears later and has a slower advance than in the general female population. […] The typical hormone profile is characterized by a high level of luteinizing hormone (LH) above the usual reference range, while the follicle stimulating hormone (FSH) level is usually normal, probably due to gonadal inhibin regulation. […] Therefore, CAIS should be suspected in these cases, depending on the patient’s age: in a neonate with female external genitalia when a prenatal test showed a 46, XY karyotype; in a female child who presents with an inguinal hernia, which is very rare in girls, or with labial swelling containing testis; and, finally, at puberty, in females with primary amenorrhea.

• #26 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542206/

  Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders and results in varying phenotypes. […] Untreated or inadequately managed, AIS may result in severe psychological distress in patients as they go through puberty into adulthood and their families at the same time. […] The phenotypic spectrum of AIS depends on the residual androgen receptor activity and encompasses individuals with a completely female phenotype to male phenotype with infertility/undervirilization. […] Androgen resistance results in complete androgen insensitivity syndrome (CAIS), characterizing XY sex reversal with normal female phenotype, whereas phenotype diversity is variable with residual androgen receptor activity, which leads to partial androgen insensitivity syndrome (PAIS).

• #27 Androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome

  AIS is divided into three categories that are differentiated by the degree of genital masculinization: Mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are those of a typical male (a penis and a scrotum); Partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized; Complete androgen insensitivity syndrome (CAIS) is indicated when the external genitalia are those of a typical female (a vulva). […] Management of AIS is currently limited to symptomatic management; no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. Areas of management include sex assignment, genitoplasty, gonadectomy to reduce tumor risk, hormone replacement therapy, genetic counseling, and psychological counseling.

• #28

  https://111.wales.nhs.uk/encyclopaedia/a/article/androgeninsensitivitysyndrome

  Babies with androgen insensitivity syndrome (AIS) will be genetically male, but will either have female genitals or an appearance between male and female genitalia. […] The first obvious symptoms often don’t appear until puberty, which starts at around the age of 11 or 12. […] When a girl with CAIS reaches puberty, she will: not start having periods, develop little or no pubic and underarm hair, develop breasts and have growth spurts as normal, although she may end up slightly taller than usual for a girl. […] Girls with CAIS don’t have a womb or ovaries, so are unable to get pregnant. Their vagina will also be shorter than normal, which may make having sex difficult. […] The development of children with partial androgen insensitivity syndrome (PAIS) can vary. […] In many cases, the genitalia are between male and female from birth.

• #29 Androgen Insensitivity Syndrome – MD Searchlight

  https://mdsearchlight.com/sexual-health/androgen-insensitivity-syndrome/

  Androgen insensitivity syndrome is a condition that could be categorized into three subtypes: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS). […] The signs of CAIS can vary between infants and adolescent females. It generally makes its presence known through primary amenorrhea in adolescent females (when they do not begin menstruating) or the accidental discovery of testes during a hernia repair in girls. […] People with PAIS possess a mix of masculine and feminine physical traits, which vary based on functionality of their androgen receptor. Common physical traits include hypospadias (a condition where the opening of the urethra is on the underside of the penis), a bifid scrotum (split scrotum), and a smaller than average penis.

• #30 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #31 Reifenstein syndrome Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/reifenstein-syndrome

  People with PAIS may have both male and female physical characteristics. These characteristics vary from person to person. These may include: Inguinal hernia. Male breast development at the time of puberty. (gynecomastia) Testes in the abdomen or other atypical places in the body (undescended testicles). A very small penis (micropenis). The opening of the urethra is on the underside of the penis, not the tip (hypospadias). Scrotum that is split in two (bifid scrotum). A vagina but no cervix or uterus. A short vagina. A very large clitoris. Partial closing of the labia. Sexual dysfunction. Infertility. […] Androgens are most important during early development in the womb. People with PAIS can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. […] Possible complications may include: Infertility Psychological and social issues Testicular cancer.

• #32 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #33 What Is Androgen Insensitivity Syndrome? – Klarity Health Library

  https://my.klarity.health/what-is-androgen-insensitivity-syndrome/

  Symptoms of CAIS may include: Absence of menstrual periods, Lack of pubic hair, Absence of armpit hair, Taller height than usual. […] PAIS is typically easier to identify due to differences in the appearance of external genitals at birth. Symptoms of PAIS might include: Abnormally large clitoris, Fused labia, Undescended testes, Underdeveloped penis, Changes in the location of the urethra, Enlarged breasts (gynecomastia) during puberty, Moderate pubic hair, Lack of facial or body hair. […] While infertility is the most common symptom of MAIS, other symptoms of the condition may include: Enlarged breasts during puberty, Smaller penis, Lack of facial or body hair. […] If left untreated or not effectively managed, AIS can lead to significant psychological distress for both the individuals with AIS and their families.

• #34 Androgen Insensitivity Syndrome (AIS): Symptoms, Stigma, and Treatment

  https://www.healthline.com/health/androgen-insensitivity-syndrome

  AIS is an intersex variation found in males who are resistant to the effects of male sex hormones. Sometimes symptoms may not manifest until puberty, and they may not always need treatment. […] Androgen insensitivity syndrome, or AIS, is a variation of sex development that causes intersex traits in males. AIS can cause changes in the way a persons external genitals appear, as well as changes to ones internal reproductive organs. […] CAIS often remains undiagnosed until puberty. This is when symptoms typically appear as the result of absent or underdeveloped reproductive organs. […] Symptoms of CAIS may include: no menstrual periods, lack of pubic hair, lack of armpit hair, taller height than usual. […] Symptoms of PAIS might include: abnormally large clitoris, fused labia, undescended testes, underdeveloped penis, changes in the location of the urethra, enlarged breasts (gynecomastia) in puberty, moderate pubic hair, lack of facial or body hair.

• #35 Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene in: Endocrinology, Diabetes & Metabolism Case Reports Volume 2018 Issue 1 (2018)

  https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0128.xml

  Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. […] However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. […] We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene. […] The hormonal finding of very high testosterone, elevated LH and estradiol and relatively normal FSH are classical findings of PAIS. […] Gynecomastia due to PAIS will not resolve and surgery for breast reduction should be recommended. […] Partial androgen insensitivity syndrome (PAIS) was suspected based on the very high total and free testosterone levels, elevated LH level, elevated estradiol level and lack of adequate virilization for the testosterone level in the setting of persistent pubertal gynecomastia.

• #36

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/symptoms/

  Babies with androgen insensitivity syndrome (AIS) will have XY (usual male pattern) chromosomes. Their external genitals will either appear as female or have an appearance that is not usual for a boy or girl. […] The first signs usually begin at puberty, which starts at around the age of 11 or 12. […] When a girl with CAIS reaches puberty, she will: develop breasts and have growth spurts as normal, although she may end up slightly taller than usual for a girl; not start having periods; develop little or no pubic and underarm hair. […] Girls with CAIS do not have a womb or ovaries, so are unable to get pregnant. Their vagina will also be shorter than normal, which may make some sexual acts difficult. […] In many cases, the genitalia at birth is the first sign and affected babies may have: an enlarged clitoris (the sexual organ that allows women to have an orgasm); partially undescended testicles; hypospadias where the hole through which urine passes out of the body is on the underside of the penis, rather than at the end. […] Children with PAIS are often raised as boys, although they will continue to have a small penis and may develop some breast tissue at puberty. […] Like those with CAIS, people with PAIS do not have a womb or ovaries. They may produce no or very little sperm.

• #37 Reifenstein syndrome Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/reifenstein-syndrome

  People with PAIS may have both male and female physical characteristics. These characteristics vary from person to person. These may include: Inguinal hernia. Male breast development at the time of puberty. (gynecomastia) Testes in the abdomen or other atypical places in the body (undescended testicles). A very small penis (micropenis). The opening of the urethra is on the underside of the penis, not the tip (hypospadias). Scrotum that is split in two (bifid scrotum). A vagina but no cervix or uterus. A short vagina. A very large clitoris. Partial closing of the labia. Sexual dysfunction. Infertility. […] Androgens are most important during early development in the womb. People with PAIS can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. […] Possible complications may include: Infertility Psychological and social issues Testicular cancer.

• #38 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #39 Androgen Insensitivity Syndrome, Partial: symptoms, causes, treatment, medicine, prevention, diagnosis

  https://www.myupchar.com/en/disease/androgen-insensitivity-syndrome-partial

  Androgen insensitivity syndrome is a genetic disorder seen in genetically male individuals (46, XY chromosome). […] In this syndrome, there is the presence of ambiguous genital organs. […] Partial androgen insensitivity involves a partial insensitivity of body receptors towards androgens. […] Variable genital appearance. […] Breast development in males at puberty, less body hair and beard, and sexual dysfunction. […] A small penis, hypospadias (a condition where the opening of the urethra is present on below base of the penis), bifid scrotum (a deep cleft in the scrotum in the midline), undescended testis and infertility. […] Severely affected males may have female external genitalia with a large clitoris, gynaecomastia (lager than usual male breasts) or partial fusion of the lips of the vagina.

• #40 Androgen Insensitivity: Symptoms, Causes, and Treatment

  https://www.verywellhealth.com/androgen-insensitivity-4173975

  They also do not have pubic or underarm hair, because the growth of this hair is controlled by testosterone. They may be taller than other girls but generally have normal breast development. […] The symptoms of partial androgen insensitivity are more variable. At the time of birth, individuals may have genitals that appear almost completely female to almost normally male. They can also appear anywhere in between. Symptoms of PAIS in individuals who are characterized as males at the time of birth include: Micropenis, Hypospadias: a urethral opening midway up the penis rather than at the tip. This is a common birth defect, affecting one out of 150 to 300 male births. Cryptorchidism: where the testicles have few or no germ cells. Individuals with cryptorchidism are more susceptible to testicular cancers. Breast growth during puberty.

• #41 Partial androgen insensitivity syndrome – UF Health

  https://ufhealth.org/conditions-and-treatments/partial-androgen-insensitivity-syndrome

  People with PAIS may have both male and female physical characteristics. These characteristics vary from person to person. These may include: […] At birth, the baby may have ambiguous external genitals. This means that they do not look typically either male or female. […] Possible complications may include: Infertility. […] People with PAIS can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child.

• #42 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #43 Androgen Insensitivity Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/androgen-insensitivity-syndrome

  Other symptoms of partial androgen insensitivity syndrome include failure of one or both of the testicles to descend into the scrotum after birth and an abnormal penis in which the urethra opens on the underside, instead of at the tip. In the least severe cases, the only sign of androgen insensitivity syndrome is male infertility. […] Children with androgen insensitivity syndrome will become infertile as adults. However, with psychological support and hormone replacement therapy, they are able to otherwise lead a normal life.

• #44

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/symptoms/

  Babies with androgen insensitivity syndrome (AIS) will have XY (usual male pattern) chromosomes. Their external genitals will either appear as female or have an appearance that is not usual for a boy or girl. […] The first signs usually begin at puberty, which starts at around the age of 11 or 12. […] When a girl with CAIS reaches puberty, she will: develop breasts and have growth spurts as normal, although she may end up slightly taller than usual for a girl; not start having periods; develop little or no pubic and underarm hair. […] Girls with CAIS do not have a womb or ovaries, so are unable to get pregnant. Their vagina will also be shorter than normal, which may make some sexual acts difficult. […] In many cases, the genitalia at birth is the first sign and affected babies may have: an enlarged clitoris (the sexual organ that allows women to have an orgasm); partially undescended testicles; hypospadias where the hole through which urine passes out of the body is on the underside of the penis, rather than at the end. […] Children with PAIS are often raised as boys, although they will continue to have a small penis and may develop some breast tissue at puberty. […] Like those with CAIS, people with PAIS do not have a womb or ovaries. They may produce no or very little sperm.

• #45

  https://111.wales.nhs.uk/encyclopaedia/a/article/androgeninsensitivitysyndrome

  Children with PAIS are usually raised as boys, although they may experience poor penis development during puberty and develop small breasts. Most children with PAIS raised as boys will be infertile. […] Some children with PAIS are raised as girls. Like those with CAIS, girls with PAIS don’t have a womb or ovaries and won’t be able to get pregnant.

• #46

  https://www.archivesofmedicalscience.com/The-challenges-of-androgen-insensitivity-syndrome,125584,0,2.html

  Partial androgen insensitivity syndrome is the result of an incomplete cellular response to androgen stimulation. The phenotype of these patients depends on the degree of androgen receptors responsiveness to androgen stimulation. Most patients are born with incompletely developed and atypical male genitalia, or ambiguous genitalia at birth. […] Mild androgen insensitivity syndrome is associated with a small degree of androgen insensitivity; these patients present a male phenotype. This type of androgen insensitivity is also the result of an androgen receptor mutation, but these patients, in contrast to those with PAIS and CAIS, present normally developed male genitalia. […] Usually, MAIS patients will seek medical advice for infertility, this being the main clue that could lead to the diagnosis. The product of serum testosterone and LH concentrations, used as an index of possible mild AIS in infertile men, could be considered a screening test for the presence of any mutation in the androgen receptor gene.

• #47 Complete Androgen Insensitivity Syndrome – ISS

  https://www.iss.it/en/-/complete-androgen-insensitivity-syndrome

  The absence of the uterus can be ascertained by pelvic ultrasound. […] Hormone Therapy Owing to the aromatization of testosterone, during puberty most people with CAIS may have insufficient oestrogen to achieve an adequate level of bone mineral density. […] Hormone therapy should be continued at least until the age of 5051, the average age of menopause onset. […] Surgery International scientific research suggests that the risk of gonadal cancer in people with CAIS is low and remains relatively low until adulthood, after which it starts increasing over the years. […] Another important aspect to deal with, when the person feels ready to have sexual intercourse, is the treatment of vaginal agenesis (partial or total absence of the vagina) through vaginal dilations or surgical techniques.

• #48 Androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome

  Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY (karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens. This unresponsiveness can impair or prevent the development of male genitals, as well as impairing or preventing the development of male secondary sexual characteristics at puberty. It does not significantly impair female genital or sexual development. The insensitivity to androgens is therefore clinically significant only when it occurs in genetic males, (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). Clinical phenotypes in these individuals range from a typical male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome.

• #49 Mild androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Mild_androgen_insensitivity_syndrome

  Mild androgen insensitivity syndrome (MAIS) is an intersex variation that results in a mild impairment of the cell’s ability to respond to androgens. The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected by the insensitivity to androgens; as such, MAIS is only diagnosed in males. The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair. […] Individuals with mild (or minimal) androgen insensitivity syndrome (grade 1 on the Quigley scale) are born phenotypically male, with fully masculinized genitalia; this category of androgen insensitivity is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY karyotype is great enough to impair virilization or spermatogenesis, but is not great enough to impair normal male genital development. MAIS is the mildest and least known form of androgen insensitivity syndrome.

• #50 Mild androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Mild_androgen_insensitivity_syndrome

  Mild androgen insensitivity syndrome (MAIS) is an intersex variation that results in a mild impairment of the cell’s ability to respond to androgens. The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected by the insensitivity to androgens; as such, MAIS is only diagnosed in males. The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair. […] Individuals with mild (or minimal) androgen insensitivity syndrome (grade 1 on the Quigley scale) are born phenotypically male, with fully masculinized genitalia; this category of androgen insensitivity is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY karyotype is great enough to impair virilization or spermatogenesis, but is not great enough to impair normal male genital development. MAIS is the mildest and least known form of androgen insensitivity syndrome.

• #51 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #52 Androgen Insensitivity Syndrome (AIS): Symptoms, Stigma, and Treatment

  https://www.healthline.com/health/androgen-insensitivity-syndrome

  While the most common symptom of MAIS is infertility, other symptoms of the condition may include: enlarged breasts in puberty, smaller penis, lack of facial or body hair. […] Its extremely common for people with AIS to experience fertility concerns. […] However, these concerns can result from different causes, depending on the type of AIS. For example, people with CAIS experience infertility because they lack the reproductive organs to facilitate pregnancy. People with MAIS usually experience fertility issues because of impaired sperm production. […] While this condition can result in infertility, AIS is not a life threatening condition. You can manage AIS with hormone therapy and other treatment options.

• #53 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #54 Androgen Insensitivity Syndrome – MD Searchlight

  https://mdsearchlight.com/sexual-health/androgen-insensitivity-syndrome/

  Individuals with MAIS usually appear as normal males but may have a small penis. In adulthood, they might struggle with gynecomastia (developing breast tissue) and infertility. […] The condition can present itself in different ways, referred to as Complete Androgen Insensitivity Syndrome (CAIS) and Partial Androgen Insensitivity Syndrome (PAIS). While the symptoms of these two forms can vary, the root causes and the ways in which they affect the body are similar. […] The prognosis for Androgen Insensitivity Syndrome (AIS) depends on the specific type and severity of the condition. Here are some key points regarding the prognosis: – Complete Androgen Insensitivity Syndrome (CAIS): Individuals with CAIS typically have completely female physical characteristics and are infertile. […] Partial Androgen Insensitivity Syndrome (PAIS): The prognosis for PAIS varies widely, as there is a wide range of physical characteristics that can be seen. Treatment may involve hormone therapy, surgery, and psychological support. […] Research has shown that individuals with PAIS who do not undergo a gonadectomy (removal of the gonads) have a higher risk of developing tumors later in life.

• #55 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #56 Androgen Insensitivity Syndrome (AIS): Symptoms, Stigma, and Treatment

  https://www.healthline.com/health/androgen-insensitivity-syndrome

  While the most common symptom of MAIS is infertility, other symptoms of the condition may include: enlarged breasts in puberty, smaller penis, lack of facial or body hair. […] Its extremely common for people with AIS to experience fertility concerns. […] However, these concerns can result from different causes, depending on the type of AIS. For example, people with CAIS experience infertility because they lack the reproductive organs to facilitate pregnancy. People with MAIS usually experience fertility issues because of impaired sperm production. […] While this condition can result in infertility, AIS is not a life threatening condition. You can manage AIS with hormone therapy and other treatment options.

• #57 Mild androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Mild_androgen_insensitivity_syndrome

  Examples of MAIS phenotypes include isolated infertility (oligospermia or azoospermia), mild gynecomastia in young adulthood, decreased secondary terminal hair, high pitched voice, or minor hypospadias repair in childhood. The external male genitalia (penis and scrotum) are otherwise normal in individuals with MAIS. Internal genitalia, including Wolffian structures (the epididymides, vasa deferentia, and seminal vesicles) and the prostate, is also normal, although the bitesticular volume of infertile men (both with and without MAIS) is diminished; male infertility is associated with reduced bitesticular volume, varicocele, retractile testes, low ejaculate volume, male accessory gland infections (MAGI), and mumps orchitis. […] The symptoms of MAIS often go unnoticed and untreated; even with semenological, clinical and laboratory data, it can be difficult to distinguish between men with and without MAIS, and thus a diagnosis of MAIS is not usually made without confirmation of an AR gene mutation.

• #58

  https://www.archivesofmedicalscience.com/The-challenges-of-androgen-insensitivity-syndrome,125584,0,2.html

  Partial androgen insensitivity syndrome is the result of an incomplete cellular response to androgen stimulation. The phenotype of these patients depends on the degree of androgen receptors responsiveness to androgen stimulation. Most patients are born with incompletely developed and atypical male genitalia, or ambiguous genitalia at birth. […] Mild androgen insensitivity syndrome is associated with a small degree of androgen insensitivity; these patients present a male phenotype. This type of androgen insensitivity is also the result of an androgen receptor mutation, but these patients, in contrast to those with PAIS and CAIS, present normally developed male genitalia. […] Usually, MAIS patients will seek medical advice for infertility, this being the main clue that could lead to the diagnosis. The product of serum testosterone and LH concentrations, used as an index of possible mild AIS in infertile men, could be considered a screening test for the presence of any mutation in the androgen receptor gene.

• #59 Mild androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Mild_androgen_insensitivity_syndrome

  Examples of MAIS phenotypes include isolated infertility (oligospermia or azoospermia), mild gynecomastia in young adulthood, decreased secondary terminal hair, high pitched voice, or minor hypospadias repair in childhood. The external male genitalia (penis and scrotum) are otherwise normal in individuals with MAIS. Internal genitalia, including Wolffian structures (the epididymides, vasa deferentia, and seminal vesicles) and the prostate, is also normal, although the bitesticular volume of infertile men (both with and without MAIS) is diminished; male infertility is associated with reduced bitesticular volume, varicocele, retractile testes, low ejaculate volume, male accessory gland infections (MAGI), and mumps orchitis. […] The symptoms of MAIS often go unnoticed and untreated; even with semenological, clinical and laboratory data, it can be difficult to distinguish between men with and without MAIS, and thus a diagnosis of MAIS is not usually made without confirmation of an AR gene mutation.

• #60

  https://www.archivesofmedicalscience.com/The-challenges-of-androgen-insensitivity-syndrome,125584,0,2.html

  Partial androgen insensitivity syndrome is the result of an incomplete cellular response to androgen stimulation. The phenotype of these patients depends on the degree of androgen receptors responsiveness to androgen stimulation. Most patients are born with incompletely developed and atypical male genitalia, or ambiguous genitalia at birth. […] Mild androgen insensitivity syndrome is associated with a small degree of androgen insensitivity; these patients present a male phenotype. This type of androgen insensitivity is also the result of an androgen receptor mutation, but these patients, in contrast to those with PAIS and CAIS, present normally developed male genitalia. […] Usually, MAIS patients will seek medical advice for infertility, this being the main clue that could lead to the diagnosis. The product of serum testosterone and LH concentrations, used as an index of possible mild AIS in infertile men, could be considered a screening test for the presence of any mutation in the androgen receptor gene.

• #61 Androgen Insensitivity Syndrome: Symptoms, Diagnosis, and Treatment – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/androgen-insensitivity-syndrome-symptoms-diagnosis-and-treatment/

  Androgen Insensitivity Syndrome (AIS) is a rare genetic condition that affects sexual development. It occurs when the body is unable to respond to androgens, which are male sex hormones like testosterone. […] AIS is divided into two main types: Complete Androgen Insensitivity Syndrome (CAIS) and Partial Androgen Insensitivity Syndrome (PAIS). In CAIS, individuals have a typical female appearance despite having XY chromosomes. In PAIS, individuals may have ambiguous genitalia or a combination of male and female characteristics. […] The progression of AIS varies by type. In CAIS, individuals are often raised as females and may not realize they have the condition until puberty, when menstruation does not occur. In PAIS, the condition may be identified earlier due to ambiguous genitalia at birth.

• #62 Androgen Insensitivity Syndrome: Symptoms, Diagnosis, and Treatment – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/androgen-insensitivity-syndrome-symptoms-diagnosis-and-treatment/

  Androgen Insensitivity Syndrome (AIS) is a rare genetic condition that affects sexual development. It occurs when the body is unable to respond to androgens, which are male sex hormones like testosterone. […] AIS is divided into two main types: Complete Androgen Insensitivity Syndrome (CAIS) and Partial Androgen Insensitivity Syndrome (PAIS). In CAIS, individuals have a typical female appearance despite having XY chromosomes. In PAIS, individuals may have ambiguous genitalia or a combination of male and female characteristics. […] The progression of AIS varies by type. In CAIS, individuals are often raised as females and may not realize they have the condition until puberty, when menstruation does not occur. In PAIS, the condition may be identified earlier due to ambiguous genitalia at birth.

• #63 Pacific Center for Sex and Society – Androgen Insensitivity Syndrome and Klinefelter’s Syndrome

  http://www.hawaii.edu/PCSS/biblio/articles/2000to2004/2004-ais-and-klinefelters.html

  Persons who have CAIS appear female at birth and are reared as girls. Unless there is known or suspected AIS in the family or inguinal testes are detected, these girls typically go undiagnosed until puberty. The vagina may be short and blind-ending and may or may not need elongation. Breast development occurs but pubic and axillary hair development is sparse or absent. When menses fails to occur a remedy is sought. Those who have PAIS usually are noticed at, or soon after, birth. Depending upon the degree of masculinization of the genitals, the child may be raised as a boy or a girl. […] A study of individuals in the United Kingdom, who had AIS and were 16 years of age or younger, found that 59% of those who were identified as having PAIS were assigned as males. Most published cases of clinical-psychiatric involvement, however, seem to be related to subjects who were raised as females.

• #64

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/

  Androgen insensitivity syndrome (AIS) affects the development of a person’s genitals and reproductive organs. […] The genitals of a person with CAIS appear female. […] The genitals of a person with PAIS may appear as female or male. Sometimes PAIS is discovered because a baby’s genitals are not as expected for a baby boy or baby girl. […] The sex development of people with AIS means they are usually unable to become pregnant or make their partner pregnant. […] CAIS can be more difficult to spot, as the genitals usually look like those of any other girl. It’s often not diagnosed until puberty, when periods do not start and pubic and underarm hair does not develop. […] Most children with CAIS are raised as girls.

• #65 Androgen Insensitivity Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/androgen-insensitivity-syndrome

  Infants with complete androgen insensitivity syndrome appear to be female at birth, but do not have a uterus, fallopian tubes or ovaries. Their testicles are hidden inside the pelvis or abdomen. Breasts develop during puberty, but there is little or no pubic and armpit hair. Babies born with complete androgen insensitivity syndrome are typically raised as girls and have a female gender identity. In many cases, they aren’t diagnosed until adolescence or later, when they fail to menstruate or are unable to get pregnant. […] Babies born with partial androgen insensitivity syndrome may have sexual characteristics that are typical of a male, a female, or both. They may have a partial closing of the outer vagina, an enlarged clitoris and a short vagina. They may be raised as males or as females and have a male or female gender identity.

• #66 Complete Androgen Insensitivity Syndrome: From Bench to Bed

  https://www.mdpi.com/1422-0067/22/3/1264

  Females with CAIS present with a normal external female phenotype in girls and women with a 46,XY karyotype and normally functioning testes. Psychosexual development is in agreement with female sex. The internal genitalia are absent (“empty pelvis syndrome”) due to the normal action of the anti-Müllerian hormone (AMH) produced by Sertoli cells before birth, which causes regression of the Müllerian structures (uterus, cervix and proximal vagina). Moreover, Wolffian structures do not differentiate because of testosterone resistance. The testes can be in the abdomen, in the inguinal canal or in the labia majora, causing a bilateral inguinal hernia or labial swelling. These findings are the most frequent clinical signs to suspect CAIS in prepubertal girls. Audi et al. reported inguinal hernia in 47.8% of their sample as a cause for medical advice. Nearly 57% of the CAIS population presented with an inguinal hernia in the U.K. series. In our experience, an inguinal hernia was the cause for referral in more than 30% of cases (17/53). The incidence of inguinal hernias in the pediatric population is 1–4% with a clear prevalence in males (10:1). Thus, karyotypes should be performed in all girls with a mono- or bilateral inguinal hernia. At puberty, there is normal breast development and a typical female distribution of adipose tissue due to androgens being aromatized to estrogens. However, pubic and axillary hair is usually absent or may be scanty. The vagina has a blind bottom, with a length ranging from 2.5 to 8 cm; it is usually adequate for sexual intercourse. Primary amenorrhea, owing to the absence of a uterus, represents the second main reason for medical consultation.

• #67 Androgen Insensitivity syndrome | Contact

  https://contact.org.uk/conditions/androgen-insensitivity-syndrome/

  AIS is not usually diagnosed at birth. The usual presentation is during childhood with a girl who has bilateral inguinal hernias, often containing the testes. Presentation may not be until the middle teenage years, when the girl enters puberty, but has no periods and also no, or minimal, pubic or axillary hair.

• #68 Complete Androgen Insensitivity Syndrome – ISS

  https://www.iss.it/en/-/complete-androgen-insensitivity-syndrome

  Androgen Insensitivity Syndrome (AIS) is the most common form of Variation of Sex Characteristics (VSC)/Difference of Sex Development (DSD) in individuals with XY chromosomes. […] The different forms of AIS depend on the level of response to androgens: CAIS (Complete Androgen Insensitivity Syndrome), PAIS (partial AIS), or MAIS (mild AIS). […] In CAIS, a typically male development of genitals is thwarted by missing action of testosterone. The external genitalia will therefore develop in a typically female line, but only the lower portion of the vagina will take form. […] Identification Suspicion of CAIS generally occurs in adolescence in people assigned female at birth because of their typically female external genitalia, when their first menstrual cycle (menarche) fails to occur. During puberty, there is usually breast development, as well as a typically female distribution of adipose tissue. However, there is little or no pubic or underarm hair.

• #69 Complete Androgen Insensitivity Syndrome (CAIS) : University College London Hospitals NHS Foundation Trust

  https://www.uclh.nhs.uk/patients-and-visitors/patient-information-pages/complete-androgen-insensitivity-syndrome-cais

  People with CAIS will be born with a typically appearing vulva. This means that CAIS doesn’t tend to be recognised at birth unless there’s been a reason to check karyotype during pregnancy. […] Most people with CAIS will be diagnosed as an adolescent when they do not start having periods as they do not have a uterus (womb). […] In CAIS as the cells are resistant to androgens the testosterone is instead changed into Oestrogen. […] This means that there will be puberty changes that happen because of oestrogen. […] Breast development is the most easily recognised of these changes. Other oestrogen puberty changes include changes in fat distribution with hips becoming wider. […] There is a risk of the gonads in people with CAIS becoming cancerous. […] From adolescence the risk of pre-cancer changes in gonads with CAIS is felt to be around 5-10%.

• #70 Complete Androgen Insensitivity Syndrome: From Bench to Bed

  https://www.mdpi.com/1422-0067/22/3/1264

  Females with CAIS present with a normal external female phenotype in girls and women with a 46,XY karyotype and normally functioning testes. Psychosexual development is in agreement with female sex. The internal genitalia are absent (“empty pelvis syndrome”) due to the normal action of the anti-Müllerian hormone (AMH) produced by Sertoli cells before birth, which causes regression of the Müllerian structures (uterus, cervix and proximal vagina). Moreover, Wolffian structures do not differentiate because of testosterone resistance. The testes can be in the abdomen, in the inguinal canal or in the labia majora, causing a bilateral inguinal hernia or labial swelling. These findings are the most frequent clinical signs to suspect CAIS in prepubertal girls. Audi et al. reported inguinal hernia in 47.8% of their sample as a cause for medical advice. Nearly 57% of the CAIS population presented with an inguinal hernia in the U.K. series. In our experience, an inguinal hernia was the cause for referral in more than 30% of cases (17/53). The incidence of inguinal hernias in the pediatric population is 1–4% with a clear prevalence in males (10:1). Thus, karyotypes should be performed in all girls with a mono- or bilateral inguinal hernia. At puberty, there is normal breast development and a typical female distribution of adipose tissue due to androgens being aromatized to estrogens. However, pubic and axillary hair is usually absent or may be scanty. The vagina has a blind bottom, with a length ranging from 2.5 to 8 cm; it is usually adequate for sexual intercourse. Primary amenorrhea, owing to the absence of a uterus, represents the second main reason for medical consultation.

• #71

• #72 Androgen Insensitivity Syndrome: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/924996-overview

  Because the testes produce normal amounts of mllerian-inhibiting factor, also known as mllerian-inhibiting substance or anti-mllerian hormone/factor, affected individuals do not have fallopian tubes, a uterus, or a proximal (upper) vagina. […] Loss of AR function means that, despite normal levels of androgen synthesis, the typical postreceptor events that mediate the effects of hormones on tissues do not occur. This results in the phenotype of prenatal undervirilization of external genitalia, absence of pubic and axillary hair, lack of acne, and absence of voice changes at puberty. […] Complete AIS increases the risk of testicular malignancy if the testes are not removed, with risk estimated at 3.6% at 25 years and 33% at 50 years. […] The risk of germ cell tumors (GCT) in partial AIS with untreated undescended testes is significantly greater, with estimates as high as 50%.

• #73 Androgen Insensitivity Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17524

  Parents can choose early gonadectomy to prevent tumorigenesis when complete androgen insensitivity presents in infancy, and the child is unaware of the issues around the diagnosis of CAIS. […] Unlike CAIS, infants with PAIS are usually born with ambiguous genitalia, which presents the necessity for an accurate diagnosis primarily and a decision on sex assignment after a holistic discussion with family and caregivers. […] Studies have suggested an increased tumor risk of greater than 30% in late adulthood if a gonadectomy is not done. […] Untreated or inadequately managed AIS may result in severe psychological distress in patients as they go through puberty into adulthood and their families at the same time.

• #74 Pediatric androgen insensitivity syndrome (AIS) – Children’s Health Dallas and Plano

  https://www.childrens.com/specialties-services/conditions/androgen-insensitivity-syndrome

  Androgen insensitivity syndrome is an example of disorders of sex development (DSD). Symptoms may not be noted until puberty and may include: A short vagina (blind pouch), but no cervix or uterus (found upon pelvic exam/ultrasound) […] No menstrual cycle, due to an absent uterus […] Normal breast development with little or no pubic and armpit hair […] No acne during puberty […] Hernias or lumps in the groin or abdomen (which are actually testes) […] An inguinal hernia with testes that can be felt during a physical examination […] Testes in the abdomen […] External genitals that aren’t clearly male or female (ambiguous genitalia), in the case of partial or incomplete androgen insensitivity. Complete androgen insensitivity is typically discovered at puberty, when a girl fails to start having periods or doesn’t develop pubic or underarm hair. Partial androgen insensitivity is usually discovered when the baby is born because the external genitals aren’t clearly male or female (ambiguous genitalia).

• #75 What Is Androgen Insensitivity Syndrome? – Klarity Health Library

  https://my.klarity.health/what-is-androgen-insensitivity-syndrome/

  Symptoms of CAIS may include: Absence of menstrual periods, Lack of pubic hair, Absence of armpit hair, Taller height than usual. […] PAIS is typically easier to identify due to differences in the appearance of external genitals at birth. Symptoms of PAIS might include: Abnormally large clitoris, Fused labia, Undescended testes, Underdeveloped penis, Changes in the location of the urethra, Enlarged breasts (gynecomastia) during puberty, Moderate pubic hair, Lack of facial or body hair. […] While infertility is the most common symptom of MAIS, other symptoms of the condition may include: Enlarged breasts during puberty, Smaller penis, Lack of facial or body hair. […] If left untreated or not effectively managed, AIS can lead to significant psychological distress for both the individuals with AIS and their families.

• #76 Androgen insensitivity syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/

  The partial and mild forms of androgen insensitivity syndrome occur when the body’s tissues are partially sensitive to the effects of androgens. People with partial androgen insensitivity can have genitalia that look typical for females, genitalia that have both male and female characteristics, or genitalia that look typical for males. People with mild androgen insensitivity are born with male-typical sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty.

• #77 Orphanet: Partial androgen insensitivity syndrome

  https://www.orpha.net/en/disease/detail/90797

  Patients have a highly variable genital appearance. The prototypic form of presentation is severe hypospadias, micropenis, and bifid scrotum in which the testes may or may not be descended. […] In the more severe form of PAIS, patients have female external genitalia with clitoromegaly, partial labial fusion and labial swellings comprising testes. A mild end of the spectrum, labeled MAIS (mild or minimal AIS), is a male with gynecomastia at puberty or an adult presenting with male factor infertility. […] Prognosis is variable in terms of sexual function and quality of life in those raised male. Infertility is invariable. There is an increased risk of gonadal tumor, particularly if the testis remains undescended.

• #78

  https://111.wales.nhs.uk/encyclopaedia/a/article/androgeninsensitivitysyndrome

  Babies with androgen insensitivity syndrome (AIS) will be genetically male, but will either have female genitals or an appearance between male and female genitalia. […] The first obvious symptoms often don’t appear until puberty, which starts at around the age of 11 or 12. […] When a girl with CAIS reaches puberty, she will: not start having periods, develop little or no pubic and underarm hair, develop breasts and have growth spurts as normal, although she may end up slightly taller than usual for a girl. […] Girls with CAIS don’t have a womb or ovaries, so are unable to get pregnant. Their vagina will also be shorter than normal, which may make having sex difficult. […] The development of children with partial androgen insensitivity syndrome (PAIS) can vary. […] In many cases, the genitalia are between male and female from birth.

• #79 Androgen Insensitivity | Queensland Paediatric Endocrinology

  https://www.qldpaedendocrinology.com.au/endocrine-issues/androgen-insensitivity

  In partial androgen insensitivity, affected babies have a micro penis (very small penis) or enlarged clitoris, partially undescended testes, and hypospadias (urogenital opening of the penis on the underside rather than the tip). Small breasts can develop. While the external genitalia may appear female, there is no uterus or ovaries present.

• #80

  https://111.wales.nhs.uk/encyclopaedia/a/article/androgeninsensitivitysyndrome

  Children with PAIS are usually raised as boys, although they may experience poor penis development during puberty and develop small breasts. Most children with PAIS raised as boys will be infertile. […] Some children with PAIS are raised as girls. Like those with CAIS, girls with PAIS don’t have a womb or ovaries and won’t be able to get pregnant.

• #81 Kennedy’s disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review | Endocrinología y Nutrición (English Edition)

  https://www.elsevier.es/en-revista-endocrinologia-nutricion-english-edition–412-articulo-kennedy-s-disease-partial-androgen-insensitivity-S2173509315000707

  Endocrine findings in our patients consisted of gynecomastia, decreased body hair, testicular size reduction, decreased libido, and sexual impotence. […] Two of the patients had had bilateral gynecomastia since childhood and puberty, which represents a frequency similar to the 70% reported by Dejager et al. This is considered to be the most common endocrine manifestation. […] Decreased libido and erectile dysfunction evolved in parallel to the neurological symptoms in two of the cases, while in the other two patients clinical symptoms appeared after endocrine changes. Decreased testicular size with no signs of sexual ambiguity such as hypospadias or micropenis was found in two cases. […] The endocrine picture of KD is a part of partial androgen insensitivity syndrome (PAIS), which includes the partial loss of secondary sexual characteristics such as gynecomastia, decreased facial hair and shaving frequency, testicular atrophy, decreased libido, erectile dysfunction, and oligospermia/azoospermia causing impaired fertility.

• #82 Androgen Insensitivity Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1429/

  Gynecomastia at puberty and impaired spermatogenesis occur in all individuals with PAIS. […] The external genitalia of affected individuals are unambiguously male. They usually present with gynecomastia at puberty. They may have undermasculinization that includes sparse facial and body hair and small penis. Impotence may be a complaint. Spermatogenesis may or may not be impaired. […] Regular weight-bearing exercises and supplemental calcium and vitamin D are recommended to optimize bone health; bisphosphonate therapy may be indicated for those with evidence of decreased bone mineral density and/or multiple fractures. […] Monitoring of postnatal development of genitalia that were ambiguous at birth for changes that could lead to reconsideration of the assigned sex.

• #83 SciELO Brazil – Androgen insensitivity syndrome: a review Androgen insensitivity syndrome: a review

  https://www.scielo.br/j/aem/a/98DLW9RbrG7knCMNdRcGdtM/

  Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Patients with AIS developed breasts with estradiol levels in normal male range suggesting that the lack of androgen action is the main driver of breast development in these patients, rather than an increased estrogen secretion. Menstrual cycles do not appear since normal production of anti-mullerian hormone (AMH) by the testis impeded uterus, cervix and proximal vagina to development. A shortened blind-ending vagina is observed in almost all patients and the vaginal measurement varied from 2.5 to 8 cm in CAIS and 1.5 4 cm in PAIS. Pubic and axillary hair are sparse or absent. The PAIS clinical phenotype varies according to the degree of AR residual function and ranges from proximal hypospadias to micropenis. Gynecomastia observed at puberty time in patients with atypical genitalia can be indicative of PAIS. MAIS is associated with AR mutations but without external genitalia abnormalities. This diagnosis could be suspected in the investigation of male infertility or in pubertal gynecomastia. MAIS can also manifest in a patient with neurological disorder characterized by bulbar and muscular atrophy (Kennedy’s disease). In AIS the endocrine profile is consistent with androgen resistance characterized by elevated or normal basal serum testosterone levels associated with high serum LH levels. In postpuberal patients estradiol levels are normal or slightly elevated for a male individual. Typically in AIS, basal testosterone and LH levels are elevated demonstrating the impairment of androgen negative feedback on the anterior pituitary. In CAIS, the diagnosis can be done intrauterus, at birth, childhood or after puberty. In PAIS, the diagnosis is usually at birth due to the atypical external genitalia. In MAIS, the diagnosis should be considered in cases of pubertal gynecomastia and male infertility. In CAIS, there is a low risk of GCTs before puberty and postponing surgery to after puberty may allow the development of spontaneous puberty. In PAIS there is a risk of GCTs in 15% of the patients, and bilateral gonadectomy is recommended at childhood in all individuals raised in the female social sex. For males with PAIS, the testis should be placed in the scrotum and regularly monitored. Infertility may be the only clinical manifestation of undervirilization in MAIS phenotype. In CAIS, there is absence of uterus and testes histology reveals incomplete spermatogenesis, increased fibrosis, Leydig cell hyperplasia and low frequency of spermatogonia conferring a very low potential to fertility. In PAIS individuals, some residual androgen receptor function is preserved, but not usually enough to promote fertility. In general, infertility in AIS is the rule. Psychological support is essential for AIS individuals and their parents, in general. The gender identity, gender role and sexual orientation show a female pattern in CAIS individuals. In PAIS patients, in general, gender identity aligned with both sex of rearing male or female. Gender change is very rarely described in CAIS and there are just four cases of gender change in individuals with CAIS. Therefore, gender dysphoria in CAIS is considered truly transgenderism. However, sexual functioning and sexual quality of life demonstrated less-positive outcome in CAIS patients in comparison with normal woman. Although there is no inconsistency in gender identity, male PAIS individuals show disappointment with undervirilization signs. The absence or paucity of facial and body hair, the high-pitched voice compromised their self-perception of manhood.

• #84 SciELO Brazil – Androgen insensitivity syndrome: a review Androgen insensitivity syndrome: a review

  https://www.scielo.br/j/aem/a/98DLW9RbrG7knCMNdRcGdtM/

  Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Patients with AIS developed breasts with estradiol levels in normal male range suggesting that the lack of androgen action is the main driver of breast development in these patients, rather than an increased estrogen secretion. Menstrual cycles do not appear since normal production of anti-mullerian hormone (AMH) by the testis impeded uterus, cervix and proximal vagina to development. A shortened blind-ending vagina is observed in almost all patients and the vaginal measurement varied from 2.5 to 8 cm in CAIS and 1.5 4 cm in PAIS. Pubic and axillary hair are sparse or absent. The PAIS clinical phenotype varies according to the degree of AR residual function and ranges from proximal hypospadias to micropenis. Gynecomastia observed at puberty time in patients with atypical genitalia can be indicative of PAIS. MAIS is associated with AR mutations but without external genitalia abnormalities. This diagnosis could be suspected in the investigation of male infertility or in pubertal gynecomastia. MAIS can also manifest in a patient with neurological disorder characterized by bulbar and muscular atrophy (Kennedy’s disease). In AIS the endocrine profile is consistent with androgen resistance characterized by elevated or normal basal serum testosterone levels associated with high serum LH levels. In postpuberal patients estradiol levels are normal or slightly elevated for a male individual. Typically in AIS, basal testosterone and LH levels are elevated demonstrating the impairment of androgen negative feedback on the anterior pituitary. In CAIS, the diagnosis can be done intrauterus, at birth, childhood or after puberty. In PAIS, the diagnosis is usually at birth due to the atypical external genitalia. In MAIS, the diagnosis should be considered in cases of pubertal gynecomastia and male infertility. In CAIS, there is a low risk of GCTs before puberty and postponing surgery to after puberty may allow the development of spontaneous puberty. In PAIS there is a risk of GCTs in 15% of the patients, and bilateral gonadectomy is recommended at childhood in all individuals raised in the female social sex. For males with PAIS, the testis should be placed in the scrotum and regularly monitored. Infertility may be the only clinical manifestation of undervirilization in MAIS phenotype. In CAIS, there is absence of uterus and testes histology reveals incomplete spermatogenesis, increased fibrosis, Leydig cell hyperplasia and low frequency of spermatogonia conferring a very low potential to fertility. In PAIS individuals, some residual androgen receptor function is preserved, but not usually enough to promote fertility. In general, infertility in AIS is the rule. Psychological support is essential for AIS individuals and their parents, in general. The gender identity, gender role and sexual orientation show a female pattern in CAIS individuals. In PAIS patients, in general, gender identity aligned with both sex of rearing male or female. Gender change is very rarely described in CAIS and there are just four cases of gender change in individuals with CAIS. Therefore, gender dysphoria in CAIS is considered truly transgenderism. However, sexual functioning and sexual quality of life demonstrated less-positive outcome in CAIS patients in comparison with normal woman. Although there is no inconsistency in gender identity, male PAIS individuals show disappointment with undervirilization signs. The absence or paucity of facial and body hair, the high-pitched voice compromised their self-perception of manhood.

• #85 Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology | Modern Pathology

  https://www.nature.com/articles/modpathol2013193

  The aim of the present study was to investigate the role of residual AR activity and abnormal gonadal location on the survival of atypical germ cells, as well as on the development of other histopathological changes of the testis in complete androgen insensitivity. […] The survival of germ cells with fetal features (ie, POU5F1-positive) and their progression toward an invasive tumor in patients with complete androgen insensitivity syndrome are separate and very important issues. […] We observed a developmental continuum between germ cells with delayed maturation and intratubular germ cell neoplasia in our study. […] The high percentage of patients with germ cell abnormalities in our study suggests that most of the lesions do not progress to intratubular germ cell neoplasia and subsequent invasive germ cell tumors in complete androgen insensitivity.

• #86 Mild androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Mild_androgen_insensitivity_syndrome

  Mild androgen insensitivity syndrome (MAIS) is an intersex variation that results in a mild impairment of the cell’s ability to respond to androgens. The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected by the insensitivity to androgens; as such, MAIS is only diagnosed in males. The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair. […] Individuals with mild (or minimal) androgen insensitivity syndrome (grade 1 on the Quigley scale) are born phenotypically male, with fully masculinized genitalia; this category of androgen insensitivity is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY karyotype is great enough to impair virilization or spermatogenesis, but is not great enough to impair normal male genital development. MAIS is the mildest and least known form of androgen insensitivity syndrome.

• #87

  https://www.archivesofmedicalscience.com/The-challenges-of-androgen-insensitivity-syndrome,125584,0,2.html

  Partial androgen insensitivity syndrome is the result of an incomplete cellular response to androgen stimulation. The phenotype of these patients depends on the degree of androgen receptors responsiveness to androgen stimulation. Most patients are born with incompletely developed and atypical male genitalia, or ambiguous genitalia at birth. […] Mild androgen insensitivity syndrome is associated with a small degree of androgen insensitivity; these patients present a male phenotype. This type of androgen insensitivity is also the result of an androgen receptor mutation, but these patients, in contrast to those with PAIS and CAIS, present normally developed male genitalia. […] Usually, MAIS patients will seek medical advice for infertility, this being the main clue that could lead to the diagnosis. The product of serum testosterone and LH concentrations, used as an index of possible mild AIS in infertile men, could be considered a screening test for the presence of any mutation in the androgen receptor gene.

• #88 Mild androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Mild_androgen_insensitivity_syndrome

  Mild androgen insensitivity syndrome (MAIS) is an intersex variation that results in a mild impairment of the cell’s ability to respond to androgens. The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected by the insensitivity to androgens; as such, MAIS is only diagnosed in males. The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair. […] Individuals with mild (or minimal) androgen insensitivity syndrome (grade 1 on the Quigley scale) are born phenotypically male, with fully masculinized genitalia; this category of androgen insensitivity is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY karyotype is great enough to impair virilization or spermatogenesis, but is not great enough to impair normal male genital development. MAIS is the mildest and least known form of androgen insensitivity syndrome.

• #89 Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene in: Endocrinology, Diabetes & Metabolism Case Reports Volume 2018 Issue 1 (2018)

  https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0128.xml

  Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. […] However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. […] We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene. […] The hormonal finding of very high testosterone, elevated LH and estradiol and relatively normal FSH are classical findings of PAIS. […] Gynecomastia due to PAIS will not resolve and surgery for breast reduction should be recommended. […] Partial androgen insensitivity syndrome (PAIS) was suspected based on the very high total and free testosterone levels, elevated LH level, elevated estradiol level and lack of adequate virilization for the testosterone level in the setting of persistent pubertal gynecomastia.

• #90 Kennedy’s disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review | Endocrinología y Nutrición (English Edition)

  https://www.elsevier.es/en-revista-endocrinologia-nutricion-english-edition–412-articulo-kennedy-s-disease-partial-androgen-insensitivity-S2173509315000707

  Endocrine findings in our patients consisted of gynecomastia, decreased body hair, testicular size reduction, decreased libido, and sexual impotence. […] Two of the patients had had bilateral gynecomastia since childhood and puberty, which represents a frequency similar to the 70% reported by Dejager et al. This is considered to be the most common endocrine manifestation. […] Decreased libido and erectile dysfunction evolved in parallel to the neurological symptoms in two of the cases, while in the other two patients clinical symptoms appeared after endocrine changes. Decreased testicular size with no signs of sexual ambiguity such as hypospadias or micropenis was found in two cases. […] The endocrine picture of KD is a part of partial androgen insensitivity syndrome (PAIS), which includes the partial loss of secondary sexual characteristics such as gynecomastia, decreased facial hair and shaving frequency, testicular atrophy, decreased libido, erectile dysfunction, and oligospermia/azoospermia causing impaired fertility.

• #91

  https://www.archivesofmedicalscience.com/The-challenges-of-androgen-insensitivity-syndrome,125584,0,2.html

  Partial androgen insensitivity syndrome is the result of an incomplete cellular response to androgen stimulation. The phenotype of these patients depends on the degree of androgen receptors responsiveness to androgen stimulation. Most patients are born with incompletely developed and atypical male genitalia, or ambiguous genitalia at birth. […] Mild androgen insensitivity syndrome is associated with a small degree of androgen insensitivity; these patients present a male phenotype. This type of androgen insensitivity is also the result of an androgen receptor mutation, but these patients, in contrast to those with PAIS and CAIS, present normally developed male genitalia. […] Usually, MAIS patients will seek medical advice for infertility, this being the main clue that could lead to the diagnosis. The product of serum testosterone and LH concentrations, used as an index of possible mild AIS in infertile men, could be considered a screening test for the presence of any mutation in the androgen receptor gene.

• #92 Androgen Insensitivity Syndrome (AIS): Symptoms, Stigma, and Treatment

  https://www.healthline.com/health/androgen-insensitivity-syndrome

  While the most common symptom of MAIS is infertility, other symptoms of the condition may include: enlarged breasts in puberty, smaller penis, lack of facial or body hair. […] Its extremely common for people with AIS to experience fertility concerns. […] However, these concerns can result from different causes, depending on the type of AIS. For example, people with CAIS experience infertility because they lack the reproductive organs to facilitate pregnancy. People with MAIS usually experience fertility issues because of impaired sperm production. […] While this condition can result in infertility, AIS is not a life threatening condition. You can manage AIS with hormone therapy and other treatment options.

• #93 SciELO Brazil – Androgen insensitivity syndrome: a review Androgen insensitivity syndrome: a review

  https://www.scielo.br/j/aem/a/98DLW9RbrG7knCMNdRcGdtM/

  Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Patients with AIS developed breasts with estradiol levels in normal male range suggesting that the lack of androgen action is the main driver of breast development in these patients, rather than an increased estrogen secretion. Menstrual cycles do not appear since normal production of anti-mullerian hormone (AMH) by the testis impeded uterus, cervix and proximal vagina to development. A shortened blind-ending vagina is observed in almost all patients and the vaginal measurement varied from 2.5 to 8 cm in CAIS and 1.5 4 cm in PAIS. Pubic and axillary hair are sparse or absent. The PAIS clinical phenotype varies according to the degree of AR residual function and ranges from proximal hypospadias to micropenis. Gynecomastia observed at puberty time in patients with atypical genitalia can be indicative of PAIS. MAIS is associated with AR mutations but without external genitalia abnormalities. This diagnosis could be suspected in the investigation of male infertility or in pubertal gynecomastia. MAIS can also manifest in a patient with neurological disorder characterized by bulbar and muscular atrophy (Kennedy’s disease). In AIS the endocrine profile is consistent with androgen resistance characterized by elevated or normal basal serum testosterone levels associated with high serum LH levels. In postpuberal patients estradiol levels are normal or slightly elevated for a male individual. Typically in AIS, basal testosterone and LH levels are elevated demonstrating the impairment of androgen negative feedback on the anterior pituitary. In CAIS, the diagnosis can be done intrauterus, at birth, childhood or after puberty. In PAIS, the diagnosis is usually at birth due to the atypical external genitalia. In MAIS, the diagnosis should be considered in cases of pubertal gynecomastia and male infertility. In CAIS, there is a low risk of GCTs before puberty and postponing surgery to after puberty may allow the development of spontaneous puberty. In PAIS there is a risk of GCTs in 15% of the patients, and bilateral gonadectomy is recommended at childhood in all individuals raised in the female social sex. For males with PAIS, the testis should be placed in the scrotum and regularly monitored. Infertility may be the only clinical manifestation of undervirilization in MAIS phenotype. In CAIS, there is absence of uterus and testes histology reveals incomplete spermatogenesis, increased fibrosis, Leydig cell hyperplasia and low frequency of spermatogonia conferring a very low potential to fertility. In PAIS individuals, some residual androgen receptor function is preserved, but not usually enough to promote fertility. In general, infertility in AIS is the rule. Psychological support is essential for AIS individuals and their parents, in general. The gender identity, gender role and sexual orientation show a female pattern in CAIS individuals. In PAIS patients, in general, gender identity aligned with both sex of rearing male or female. Gender change is very rarely described in CAIS and there are just four cases of gender change in individuals with CAIS. Therefore, gender dysphoria in CAIS is considered truly transgenderism. However, sexual functioning and sexual quality of life demonstrated less-positive outcome in CAIS patients in comparison with normal woman. Although there is no inconsistency in gender identity, male PAIS individuals show disappointment with undervirilization signs. The absence or paucity of facial and body hair, the high-pitched voice compromised their self-perception of manhood.

• #94 Kennedy’s disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review | Endocrinología y Nutrición (English Edition)

  https://www.elsevier.es/en-revista-endocrinologia-nutricion-english-edition–412-articulo-kennedy-s-disease-partial-androgen-insensitivity-S2173509315000707

  Kennedy’s disease, also known as bulbospinal muscular atrophy, is a rare, X-linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often have the features of hypogonadism associated to the androgen insensitivity syndrome, particularly in partial forms. […] We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene.

• #95 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #96 Living with | NICS Well

  https://www.nicswell.co.uk/conditions-and-treatments/androgen-insensitivity-syndrome/living-with

  Children with androgen insensitivity syndrome (AIS) and their parents will be supported by a team of specialists who can offer ongoing information and care. […] Various treatment options are available to someone with AIS, including reconstructive surgery and hormone therapy. […] Most parents of children with complete androgen insensitivity syndrome (CAIS) choose to raise their child as a girl, as they have female genitals and often ultimately end up identifying with being female. […] Most children with PAIS stay with the gender they’ve been raised as. However, some people feel this doesn’t represent who they are and decide to switch gender in later life. […] It’s usually recommended that a child fully understands their condition before they reach puberty. […] The situation can be more difficult if a girl with CAIS isn’t diagnosed until she has started puberty.

• #97 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Androgen insensitivity syndrome (AIS) is a rare, inherited, sexual development disorder. People with AIS are genetically male, but dont develop male external genitals because their bodies cant respond to male sex hormones. AIS can cause problems during puberty, as well as infertility. […] AIS prevents male genitals from developing as they should. It almost always results in infertility during adulthood. […] The most common symptom across all forms of AIS is infertility. People with CAIS wont be able to get pregnant or make their partners pregnant. They have genitals that appear female, but they dont have female reproductive organs. Its very rare for people with PAIS or MAIS to make their partners pregnant. Even if they have a very small penis, sperm production is usually low or non-existent.

• #98 Androgen Insensitivity Syndrome: Symptoms, Diagnosis, and Treatment – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/androgen-insensitivity-syndrome-symptoms-diagnosis-and-treatment/

  Amenorrhea, or the absence of menstruation, occurs in 100% of individuals with CAIS. Despite having female external genitalia, individuals with AIS do not have a uterus or ovaries, which are necessary for menstruation. In PAIS, amenorrhea may also occur, but some individuals may have partial menstrual cycles depending on the degree of androgen insensitivity and the presence of reproductive organs. […] Infertility is common in individuals with AIS, occurring in nearly all cases. Individuals with CAIS lack functional reproductive organs such as ovaries or a uterus, making natural conception impossible. In PAIS, fertility may be reduced or absent depending on the degree of androgen insensitivity and the development of reproductive organs. […] Individuals with AIS often have normal or elevated testosterone levels, occurring in nearly all cases. The testes produce testosterone as they would in a typical male, but the body cannot respond to it due to androgen receptor dysfunction.

• #99

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/symptoms/

  Babies with androgen insensitivity syndrome (AIS) will have XY (usual male pattern) chromosomes. Their external genitals will either appear as female or have an appearance that is not usual for a boy or girl. […] The first signs usually begin at puberty, which starts at around the age of 11 or 12. […] When a girl with CAIS reaches puberty, she will: develop breasts and have growth spurts as normal, although she may end up slightly taller than usual for a girl; not start having periods; develop little or no pubic and underarm hair. […] Girls with CAIS do not have a womb or ovaries, so are unable to get pregnant. Their vagina will also be shorter than normal, which may make some sexual acts difficult. […] In many cases, the genitalia at birth is the first sign and affected babies may have: an enlarged clitoris (the sexual organ that allows women to have an orgasm); partially undescended testicles; hypospadias where the hole through which urine passes out of the body is on the underside of the penis, rather than at the end. […] Children with PAIS are often raised as boys, although they will continue to have a small penis and may develop some breast tissue at puberty. […] Like those with CAIS, people with PAIS do not have a womb or ovaries. They may produce no or very little sperm.

• #100 Complete Androgen Insensitivity Syndrome (CAIS) : University College London Hospitals NHS Foundation Trust

  https://www.uclh.nhs.uk/patients-and-visitors/patient-information-pages/complete-androgen-insensitivity-syndrome-cais

  Some people with CAIS prefer to have their gonads removed to lower their cancer risk. […] Hormone replacement treatment (HRT) is essential to keep someone healthy and well if they have had surgery to remove their gonads (gonadectomy). […] Without these hormones they’ll be at increased future risk of osteoporosis (weak bones that can easily break) and heart disease. […] Usually people with CAIS will have a short vagina (this can be a few cm in length) or vaginal dimple (a small depression where the vaginal entrance would be). […] This means that CAIS can affect how someone can have sex; specifically, whether they can have vaginal sex. […] Having CAIS means that there are different routes to become a parent. […] Someone with CAIS is born without a womb and therefore they cannot carry a pregnancy. […] Their gonads are not able to produce mature gametes (sex cells needed for pregnancy; sperm or eggs are gametes).

• #101 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Androgen insensitivity syndrome (AIS) is a rare, inherited, sexual development disorder. People with AIS are genetically male, but dont develop male external genitals because their bodies cant respond to male sex hormones. AIS can cause problems during puberty, as well as infertility. […] AIS prevents male genitals from developing as they should. It almost always results in infertility during adulthood. […] The most common symptom across all forms of AIS is infertility. People with CAIS wont be able to get pregnant or make their partners pregnant. They have genitals that appear female, but they dont have female reproductive organs. Its very rare for people with PAIS or MAIS to make their partners pregnant. Even if they have a very small penis, sperm production is usually low or non-existent.

• #102 SciELO Brazil – Androgen insensitivity syndrome: a review Androgen insensitivity syndrome: a review

  https://www.scielo.br/j/aem/a/98DLW9RbrG7knCMNdRcGdtM/

  Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Patients with AIS developed breasts with estradiol levels in normal male range suggesting that the lack of androgen action is the main driver of breast development in these patients, rather than an increased estrogen secretion. Menstrual cycles do not appear since normal production of anti-mullerian hormone (AMH) by the testis impeded uterus, cervix and proximal vagina to development. A shortened blind-ending vagina is observed in almost all patients and the vaginal measurement varied from 2.5 to 8 cm in CAIS and 1.5 4 cm in PAIS. Pubic and axillary hair are sparse or absent. The PAIS clinical phenotype varies according to the degree of AR residual function and ranges from proximal hypospadias to micropenis. Gynecomastia observed at puberty time in patients with atypical genitalia can be indicative of PAIS. MAIS is associated with AR mutations but without external genitalia abnormalities. This diagnosis could be suspected in the investigation of male infertility or in pubertal gynecomastia. MAIS can also manifest in a patient with neurological disorder characterized by bulbar and muscular atrophy (Kennedy’s disease). In AIS the endocrine profile is consistent with androgen resistance characterized by elevated or normal basal serum testosterone levels associated with high serum LH levels. In postpuberal patients estradiol levels are normal or slightly elevated for a male individual. Typically in AIS, basal testosterone and LH levels are elevated demonstrating the impairment of androgen negative feedback on the anterior pituitary. In CAIS, the diagnosis can be done intrauterus, at birth, childhood or after puberty. In PAIS, the diagnosis is usually at birth due to the atypical external genitalia. In MAIS, the diagnosis should be considered in cases of pubertal gynecomastia and male infertility. In CAIS, there is a low risk of GCTs before puberty and postponing surgery to after puberty may allow the development of spontaneous puberty. In PAIS there is a risk of GCTs in 15% of the patients, and bilateral gonadectomy is recommended at childhood in all individuals raised in the female social sex. For males with PAIS, the testis should be placed in the scrotum and regularly monitored. Infertility may be the only clinical manifestation of undervirilization in MAIS phenotype. In CAIS, there is absence of uterus and testes histology reveals incomplete spermatogenesis, increased fibrosis, Leydig cell hyperplasia and low frequency of spermatogonia conferring a very low potential to fertility. In PAIS individuals, some residual androgen receptor function is preserved, but not usually enough to promote fertility. In general, infertility in AIS is the rule. Psychological support is essential for AIS individuals and their parents, in general. The gender identity, gender role and sexual orientation show a female pattern in CAIS individuals. In PAIS patients, in general, gender identity aligned with both sex of rearing male or female. Gender change is very rarely described in CAIS and there are just four cases of gender change in individuals with CAIS. Therefore, gender dysphoria in CAIS is considered truly transgenderism. However, sexual functioning and sexual quality of life demonstrated less-positive outcome in CAIS patients in comparison with normal woman. Although there is no inconsistency in gender identity, male PAIS individuals show disappointment with undervirilization signs. The absence or paucity of facial and body hair, the high-pitched voice compromised their self-perception of manhood.

• #103 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Other signs and symptoms of CAIS include: Abnormally tall stature for a female during puberty. Amenorrhea (no menstrual periods). Little or no pubic hair or underarm hair during puberty. Narrow or shallow vagina. Undescended testicles (testicles that are still in your abdominal cavity). […] Other signs and symptoms of PAIS can include: Bifid scrotum (scrotum splits in two). Clitoromegaly (large clitoris). Gynecomastia (enlarged male breast tissue). Hypospadias (the urethras hole is on the underside of your penis instead of the tip). Labial adhesions (lips of skin around your vagina seal shut). Micropenis (abnormally small penis). Partially undescended testicles. […] Other signs and symptoms of MAIS include: Gynecomastia. Micropenis. Sparse body hair. […] People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults. Your risk of testicular tumors also increases by about 30% without a gonadectomy (removal of gonads).

• #104 Androgen Insensitivity Syndrome – MD Searchlight

  https://mdsearchlight.com/sexual-health/androgen-insensitivity-syndrome/

  Individuals with MAIS usually appear as normal males but may have a small penis. In adulthood, they might struggle with gynecomastia (developing breast tissue) and infertility. […] The condition can present itself in different ways, referred to as Complete Androgen Insensitivity Syndrome (CAIS) and Partial Androgen Insensitivity Syndrome (PAIS). While the symptoms of these two forms can vary, the root causes and the ways in which they affect the body are similar. […] The prognosis for Androgen Insensitivity Syndrome (AIS) depends on the specific type and severity of the condition. Here are some key points regarding the prognosis: – Complete Androgen Insensitivity Syndrome (CAIS): Individuals with CAIS typically have completely female physical characteristics and are infertile. […] Partial Androgen Insensitivity Syndrome (PAIS): The prognosis for PAIS varies widely, as there is a wide range of physical characteristics that can be seen. Treatment may involve hormone therapy, surgery, and psychological support. […] Research has shown that individuals with PAIS who do not undergo a gonadectomy (removal of the gonads) have a higher risk of developing tumors later in life.

• #105 Complete Androgen Insensitivity Syndrome: From Bench to Bed

  https://www.mdpi.com/1422-0067/22/3/1264

  Malignant transformation of the gonads is the most feared complication in women with CAIS; timing of gonadectomy to prevent cancer is an issue of debate. Gonadectomy has been performed prior to definitive molecular diagnosis in some females, and early gonadal removal may still occur in prepubertal girls. However, the oncological risk in children with CAIS is relatively low and remains low until the age of majority (0.02–3%). Deans et al. found that the neoplastic risk is around 0.02% in women under 30 years old and up to 22% in those over that age. Chaurdy et al. reported a neoplastic risk between 0.8 and 22%, with an overall risk of approximately 1.5% in 133 patients over 20 years of age. Thus, gonadal surgery could be likely delayed until complete pubertal development, permitting a spontaneous growth spurt, spontaneous puberty and autonomous decision about surgery after the achievement of the age of majority. At any rate, gonadectomy after puberty is still discussed controversially.

• #106

  https://journals.lww.com/cancerjournal/fulltext/2021/17010/complete_androgen_insensitivity_syndrome_with.47.aspx

  The prevalence of AIS has been estimated to be one case in every 20,000-64,000 newborn males for the CAIS. […] CAIS is characterized by primary amenorrhea, a 46XY chromosomal, female phenotype with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair. […] New studies have suggested a somewhat lower risk malignant transformation of testes. Around 5% of AIS transform into malignancy, with a particularly low prevalence of 1% in CAIS. […] The risk of malignancy in patients with AIS is considerably low before puberty; malignancy in patients with AIS occurs at a later age compared with patients with other types of DSD. […] The diagnosis of CAIS is usually based on clinical findings and hormonal evaluation. […] Prophylactic orchidectomy is recommended after puberty to avoid development of an invasive germ cell tumor within the intra-abdominal testis.

• #107 SciELO Brazil – Androgen insensitivity syndrome: a review Androgen insensitivity syndrome: a review

  https://www.scielo.br/j/aem/a/98DLW9RbrG7knCMNdRcGdtM/

  Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Patients with AIS developed breasts with estradiol levels in normal male range suggesting that the lack of androgen action is the main driver of breast development in these patients, rather than an increased estrogen secretion. Menstrual cycles do not appear since normal production of anti-mullerian hormone (AMH) by the testis impeded uterus, cervix and proximal vagina to development. A shortened blind-ending vagina is observed in almost all patients and the vaginal measurement varied from 2.5 to 8 cm in CAIS and 1.5 4 cm in PAIS. Pubic and axillary hair are sparse or absent. The PAIS clinical phenotype varies according to the degree of AR residual function and ranges from proximal hypospadias to micropenis. Gynecomastia observed at puberty time in patients with atypical genitalia can be indicative of PAIS. MAIS is associated with AR mutations but without external genitalia abnormalities. This diagnosis could be suspected in the investigation of male infertility or in pubertal gynecomastia. MAIS can also manifest in a patient with neurological disorder characterized by bulbar and muscular atrophy (Kennedy’s disease). In AIS the endocrine profile is consistent with androgen resistance characterized by elevated or normal basal serum testosterone levels associated with high serum LH levels. In postpuberal patients estradiol levels are normal or slightly elevated for a male individual. Typically in AIS, basal testosterone and LH levels are elevated demonstrating the impairment of androgen negative feedback on the anterior pituitary. In CAIS, the diagnosis can be done intrauterus, at birth, childhood or after puberty. In PAIS, the diagnosis is usually at birth due to the atypical external genitalia. In MAIS, the diagnosis should be considered in cases of pubertal gynecomastia and male infertility. In CAIS, there is a low risk of GCTs before puberty and postponing surgery to after puberty may allow the development of spontaneous puberty. In PAIS there is a risk of GCTs in 15% of the patients, and bilateral gonadectomy is recommended at childhood in all individuals raised in the female social sex. For males with PAIS, the testis should be placed in the scrotum and regularly monitored. Infertility may be the only clinical manifestation of undervirilization in MAIS phenotype. In CAIS, there is absence of uterus and testes histology reveals incomplete spermatogenesis, increased fibrosis, Leydig cell hyperplasia and low frequency of spermatogonia conferring a very low potential to fertility. In PAIS individuals, some residual androgen receptor function is preserved, but not usually enough to promote fertility. In general, infertility in AIS is the rule. Psychological support is essential for AIS individuals and their parents, in general. The gender identity, gender role and sexual orientation show a female pattern in CAIS individuals. In PAIS patients, in general, gender identity aligned with both sex of rearing male or female. Gender change is very rarely described in CAIS and there are just four cases of gender change in individuals with CAIS. Therefore, gender dysphoria in CAIS is considered truly transgenderism. However, sexual functioning and sexual quality of life demonstrated less-positive outcome in CAIS patients in comparison with normal woman. Although there is no inconsistency in gender identity, male PAIS individuals show disappointment with undervirilization signs. The absence or paucity of facial and body hair, the high-pitched voice compromised their self-perception of manhood.

• #108 Androgen Insensitivity Syndrome: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/924996-overview

  Because the testes produce normal amounts of mllerian-inhibiting factor, also known as mllerian-inhibiting substance or anti-mllerian hormone/factor, affected individuals do not have fallopian tubes, a uterus, or a proximal (upper) vagina. […] Loss of AR function means that, despite normal levels of androgen synthesis, the typical postreceptor events that mediate the effects of hormones on tissues do not occur. This results in the phenotype of prenatal undervirilization of external genitalia, absence of pubic and axillary hair, lack of acne, and absence of voice changes at puberty. […] Complete AIS increases the risk of testicular malignancy if the testes are not removed, with risk estimated at 3.6% at 25 years and 33% at 50 years. […] The risk of germ cell tumors (GCT) in partial AIS with untreated undescended testes is significantly greater, with estimates as high as 50%.

• #109 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542206/

  Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders and results in varying phenotypes. […] Untreated or inadequately managed, AIS may result in severe psychological distress in patients as they go through puberty into adulthood and their families at the same time. […] The phenotypic spectrum of AIS depends on the residual androgen receptor activity and encompasses individuals with a completely female phenotype to male phenotype with infertility/undervirilization. […] Androgen resistance results in complete androgen insensitivity syndrome (CAIS), characterizing XY sex reversal with normal female phenotype, whereas phenotype diversity is variable with residual androgen receptor activity, which leads to partial androgen insensitivity syndrome (PAIS).

• #110 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542206/

  Symptoms vary from severe under-masculinization with female genitalia to male genitalia. […] In adulthood, it may be associated with gynecomastia and infertility. […] Untreated or inadequately managed AIS may result in severe psychological distress in patients as they go through puberty into adulthood and their families at the same time. Psychological distress is more frequent in adults with partial androgen insensitivity syndrome than in those with complete androgen insensitivity syndrome, irrespective of whether they were raised as male or female. […] Studies have suggested an increased tumor risk of greater than 30% in late adulthood if a gonadectomy is not done. […] Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation.

• #111 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542206/

  Symptoms vary from severe under-masculinization with female genitalia to male genitalia. […] In adulthood, it may be associated with gynecomastia and infertility. […] Untreated or inadequately managed AIS may result in severe psychological distress in patients as they go through puberty into adulthood and their families at the same time. Psychological distress is more frequent in adults with partial androgen insensitivity syndrome than in those with complete androgen insensitivity syndrome, irrespective of whether they were raised as male or female. […] Studies have suggested an increased tumor risk of greater than 30% in late adulthood if a gonadectomy is not done. […] Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation.

• #112 Pacific Center for Sex and Society – Androgen Insensitivity Syndrome and Klinefelter’s Syndrome

  http://www.hawaii.edu/PCSS/biblio/articles/2000to2004/2004-ais-and-klinefelters.html

  In contrast with, and usually of greater impact on the person than any medical morbidity, are the psychologic concomitants to the syndrome and management of related psychological problems. Concerns vary, depending upon whether the individual has the complete or partial form of the condition, if the individual was raised as boy or girl, at what age the syndrome was diagnosed, how much secrecy there was about the diagnosis, and the degree of open communication between the person, parents, and physicians. […] Among our respondents and according to the findings of other investigators, the issues that cause the most difficulties for individuals who have AIS are connected to secrecy, shame, and stigma. Many complaints originate from not being informed about the diagnosis and its implications. It was believed commonly that informing the individual as to the diagnosis would be traumatic and detrimental to rearing.

• #113 Pacific Center for Sex and Society – Androgen Insensitivity Syndrome and Klinefelter’s Syndrome

  http://www.hawaii.edu/PCSS/biblio/articles/2000to2004/2004-ais-and-klinefelters.html

  After finding out about their condition, most persons felt depressed—some to the point of breakdown. Others experienced denial or shock. After learning the truth, one of the first questions that patients ask has to do with whether their parents had known about the condition. Secrecy is considered a breach of trust and is harmful. […] Although the three Ss—secrecy, shame, and stigma—were the most frequent psychiatric concerns with which our respondents had to deal, one of the most personal concerns is how the individual comes to deal with the apparent disparity of being girls or women who have an XY karyotype and testes. […] All persons who have CAIS that were reared as girls live as women and identify as such. Adjustment to such an assignment was reported to be satisfactory by many investigators. We also found that all of our respondents who had the complete syndrome lived as women and believed that it was the best decision for them; however, this was not a simple solution for all.

• #114 Androgen Insensitivity Syndrome: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/924996-overview

  Psychological morbidity is common. Phenotypic females who are discovered to be genetic males may have psychosocial problems. […] Most affected individuals report psychological trauma at diagnosis. Their reactions to the diagnosis frequently are compounded by their interactions with the medical care system, in which they often are treated as oddities and forced to undergo multiple examinations and interviews with students and residents for teaching purposes. […] Some individuals with complete androgen insensitivity syndrome have reduced sexual confidence and sexual satisfaction.

• #115 Pacific Center for Sex and Society – Androgen Insensitivity Syndrome and Klinefelter’s Syndrome

  http://www.hawaii.edu/PCSS/biblio/articles/2000to2004/2004-ais-and-klinefelters.html

  Presently, 12 (66%) of our PAIS sample are living as women and 6 (33%) are living as men. Among these 6 are 4 men who were raised as boys. They originally were assigned as girls but were switched by physicians to live as boys when inguinal testes were found at the ages of 6 years, 5 years, 18 months, and 2 weeks. […] Secrecy, shame, and stigma are significant issues for individuals with AIS, leading to difficulties in managing their condition and identity.

• #116 Androgen Insensitivity Syndrome (AIS) | Intersex Society of North America

  https://isna.org/faq/conditions/ais/

  Androgen Insensitivity Syndrome, or AIS, is a genetic condition, inherited (except for occasional spontaneous mutations), occurring in approximately 1 in 20,000 individuals. In an individual with complete AIS, the bodys cells are unable to respond to androgen, or male hormones. The newborn AIS infant has genitals of normal female appearance, undescended or partially descended testes, and usually a short vagina with no cervix. Occasionally the vagina is nearly absent. AIS individuals are clearly women. At puberty, the testes are stimulated by the pituitary gland, and produce testosterone. Women with AIS do not menstruate, and are not fertile. Because the development of pubic and underarm hair, in women as well as in men, depends upon testosterone, most AIS women have no pubic or underarm hair, but some have sparse hair. When an AIS girl is diagnosed during infancy, physicians often perform surgery to remove her undescended testes. Vaginoplasty surgery is frequently performed on AIS infants or girls to increase the size of the vagina, so that she can engage in penetrative intercourse with a partner with an average size penis. Some women have successfully increased the depth of their vagina with a program of regular pressure dilation, using aids designed for that purpose. Physicians and parents have been most reluctant to be honest with AIS girls and women about their condition, and this secrecy and stigma has unnecessarily increased the emotional burden of being different.

• #117 Androgen Insensitivity Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17524

  Parents can choose early gonadectomy to prevent tumorigenesis when complete androgen insensitivity presents in infancy, and the child is unaware of the issues around the diagnosis of CAIS. […] Unlike CAIS, infants with PAIS are usually born with ambiguous genitalia, which presents the necessity for an accurate diagnosis primarily and a decision on sex assignment after a holistic discussion with family and caregivers. […] Studies have suggested an increased tumor risk of greater than 30% in late adulthood if a gonadectomy is not done. […] Untreated or inadequately managed AIS may result in severe psychological distress in patients as they go through puberty into adulthood and their families at the same time.

• #118 Complete Androgen Insensitivity Syndrome: From Bench to Bed

  https://www.mdpi.com/1422-0067/22/3/1264

  Postponing gonadectomy until after the age of majority requires an accurate follow-up. Döhnert et al. proposed a regular (bi)annual screening program comprising gonadal imaging by ultrasound or magnetic resonance and the determination of some tumor markers (α-fetoprotein, βHCG, LDH and optionally PLAP in nonsmokers) as well as endocrine evaluation (LH, FSH, testosterone and inhibin B). None of these serological markers are able to detect early neoplastic degeneration of the gonads, but the development of specific microRNA assays will be an accurate and sensitive method for the early recognition of a gonadal tumor. A major candidate is miR-371a-3p; it is relatively close to being introduced in clinical practice for malignant giant cell tumors (GCTs). […] Hypergonadotropic hypogonadism is obviously present in adolescent and adult females with CAIS and removed gonads. Adequate hormonal replacement therapy (HRT) is mandatory for these patients. In adolescents who underwent surgery before puberty, HRT should assure the development of secondary sexual characteristics, i.e., breasts; a normal pubertal growth spurt and body proportions; adequate muscle and fat mass development; optimal bone mineral accumulation; and psychosocial and psychosexual maturation, as well as satisfying general well-being. HRT is necessary in women undergoing surgery during or after adolescence to complete or maintain female secondary sexual features, to prevent bone loss and neurocognitive disorders and to guarantee cardiovascular health. Thus, HRT should be assured at least until the average of natural menopause in 46,XX women.

• #119 Complete Androgen Insensitivity Syndrome: From Bench to Bed

  https://www.mdpi.com/1422-0067/22/3/1264

  Postponing gonadectomy until after the age of majority requires an accurate follow-up. Döhnert et al. proposed a regular (bi)annual screening program comprising gonadal imaging by ultrasound or magnetic resonance and the determination of some tumor markers (α-fetoprotein, βHCG, LDH and optionally PLAP in nonsmokers) as well as endocrine evaluation (LH, FSH, testosterone and inhibin B). None of these serological markers are able to detect early neoplastic degeneration of the gonads, but the development of specific microRNA assays will be an accurate and sensitive method for the early recognition of a gonadal tumor. A major candidate is miR-371a-3p; it is relatively close to being introduced in clinical practice for malignant giant cell tumors (GCTs). […] Hypergonadotropic hypogonadism is obviously present in adolescent and adult females with CAIS and removed gonads. Adequate hormonal replacement therapy (HRT) is mandatory for these patients. In adolescents who underwent surgery before puberty, HRT should assure the development of secondary sexual characteristics, i.e., breasts; a normal pubertal growth spurt and body proportions; adequate muscle and fat mass development; optimal bone mineral accumulation; and psychosocial and psychosexual maturation, as well as satisfying general well-being. HRT is necessary in women undergoing surgery during or after adolescence to complete or maintain female secondary sexual features, to prevent bone loss and neurocognitive disorders and to guarantee cardiovascular health. Thus, HRT should be assured at least until the average of natural menopause in 46,XX women.

• #120 Complete Androgen Insensitivity Syndrome (CAIS) : University College London Hospitals NHS Foundation Trust

  https://www.uclh.nhs.uk/patients-and-visitors/patient-information-pages/complete-androgen-insensitivity-syndrome-cais

  People with CAIS will be born with a typically appearing vulva. This means that CAIS doesn’t tend to be recognised at birth unless there’s been a reason to check karyotype during pregnancy. […] Most people with CAIS will be diagnosed as an adolescent when they do not start having periods as they do not have a uterus (womb). […] In CAIS as the cells are resistant to androgens the testosterone is instead changed into Oestrogen. […] This means that there will be puberty changes that happen because of oestrogen. […] Breast development is the most easily recognised of these changes. Other oestrogen puberty changes include changes in fat distribution with hips becoming wider. […] There is a risk of the gonads in people with CAIS becoming cancerous. […] From adolescence the risk of pre-cancer changes in gonads with CAIS is felt to be around 5-10%.

• #121 Androgen Insensitivity Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1429/

  Gynecomastia at puberty and impaired spermatogenesis occur in all individuals with PAIS. […] The external genitalia of affected individuals are unambiguously male. They usually present with gynecomastia at puberty. They may have undermasculinization that includes sparse facial and body hair and small penis. Impotence may be a complaint. Spermatogenesis may or may not be impaired. […] Regular weight-bearing exercises and supplemental calcium and vitamin D are recommended to optimize bone health; bisphosphonate therapy may be indicated for those with evidence of decreased bone mineral density and/or multiple fractures. […] Monitoring of postnatal development of genitalia that were ambiguous at birth for changes that could lead to reconsideration of the assigned sex.

• #122 Complete Androgen Insensitivity Syndrome: From Bench to Bed

  https://www.mdpi.com/1422-0067/22/3/1264

  Some studies have shown reduced BMD in women with CAIS according to both female and male reference values. Study samples are usually small and heterogeneous in terms of gonadal status and type of HRT. BMD is measured with different methodologies often not comparable to each other. In some studies, the diagnosis is based on clinical data and on the karyotype without molecular analysis of AR gene with the risk of including patients with other forms of 46,XY DSD. The effectiveness of HRT in normalizing BMD values in gonadectomized women with CAIS remains an unsolved issue. Recently, Gava et al. demonstrated a small but significant increase in lumbar BMD, while femoral and total body BMD did not significantly change after 4–6 years of HRT in a cohort of gonadectomized women with CAIS. Total body BMD was higher in the group that used 2 mg of transdermal estradiol gel than in the group receiving oral formulation (estradiol valerate 2 mg). This finding could be explained by impaired liver IGF-1 synthesis with the lack of its trophic effects on bone tissue in the group treated with the oral formulation. However, BMD did not reach values of age-matched 46,XX healthy control women. Estradiol dose may be involved. Gonadectomized women with CAIS may receive relatively low estrogen for females who should be in full activity of their reproductive axis, and AR resistance may be an additional factor. Thus, a more patient-centered treatment should be taken into account. Taes et al. demonstrated an improvement in BMD in one gonadectomized woman with CAIS treated with high-dose estrogen (from 0.3 to 2.25 mg/day in the first year, then 3 mg/day for 4 years), although lumbar BMD still remained at -2 SD at the end of the 5 year follow-up period. Higher-than-usual substitutive doses of estrogens should be considered in women with complete androgen resistance to optimize bone health, assuring that they undergo strict clinical and laboratory follow-up.

• #123 Living with (3) | NICS Well

  https://www.nicswell.co.uk/conditions-and-treatments/androgen-insensitivity-syndrome/living-with-3

  It’s usually recommended that a child fully understands their condition before they reach puberty. […] The situation can be more difficult if a girl with CAIS isn’t diagnosed until she has started puberty. […] Some young children with AIS don’t need psychological support because their condition is completely natural to them. […] However, as a child gets older, they may need support from a therapist with experience in AIS to help them understand and cope with their condition. […] Children with CAIS and PAIS will sometimes need surgery to help change their body and genitals to be more consistent with the gender they’re raised as. […] Girls with CAIS will usually have their internal testicles removed, as there’s a very small risk they could become cancerous if left in place. […] If you decide you’d prefer for your child’s testicles to be removed before puberty, hormone treatment will be needed to help them develop a more female body shape.

• #124 SciELO Brazil – Androgen insensitivity syndrome: a review Androgen insensitivity syndrome: a review

  https://www.scielo.br/j/aem/a/98DLW9RbrG7knCMNdRcGdtM/

  Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Patients with AIS developed breasts with estradiol levels in normal male range suggesting that the lack of androgen action is the main driver of breast development in these patients, rather than an increased estrogen secretion. Menstrual cycles do not appear since normal production of anti-mullerian hormone (AMH) by the testis impeded uterus, cervix and proximal vagina to development. A shortened blind-ending vagina is observed in almost all patients and the vaginal measurement varied from 2.5 to 8 cm in CAIS and 1.5 4 cm in PAIS. Pubic and axillary hair are sparse or absent. The PAIS clinical phenotype varies according to the degree of AR residual function and ranges from proximal hypospadias to micropenis. Gynecomastia observed at puberty time in patients with atypical genitalia can be indicative of PAIS. MAIS is associated with AR mutations but without external genitalia abnormalities. This diagnosis could be suspected in the investigation of male infertility or in pubertal gynecomastia. MAIS can also manifest in a patient with neurological disorder characterized by bulbar and muscular atrophy (Kennedy’s disease). In AIS the endocrine profile is consistent with androgen resistance characterized by elevated or normal basal serum testosterone levels associated with high serum LH levels. In postpuberal patients estradiol levels are normal or slightly elevated for a male individual. Typically in AIS, basal testosterone and LH levels are elevated demonstrating the impairment of androgen negative feedback on the anterior pituitary. In CAIS, the diagnosis can be done intrauterus, at birth, childhood or after puberty. In PAIS, the diagnosis is usually at birth due to the atypical external genitalia. In MAIS, the diagnosis should be considered in cases of pubertal gynecomastia and male infertility. In CAIS, there is a low risk of GCTs before puberty and postponing surgery to after puberty may allow the development of spontaneous puberty. In PAIS there is a risk of GCTs in 15% of the patients, and bilateral gonadectomy is recommended at childhood in all individuals raised in the female social sex. For males with PAIS, the testis should be placed in the scrotum and regularly monitored. Infertility may be the only clinical manifestation of undervirilization in MAIS phenotype. In CAIS, there is absence of uterus and testes histology reveals incomplete spermatogenesis, increased fibrosis, Leydig cell hyperplasia and low frequency of spermatogonia conferring a very low potential to fertility. In PAIS individuals, some residual androgen receptor function is preserved, but not usually enough to promote fertility. In general, infertility in AIS is the rule. Psychological support is essential for AIS individuals and their parents, in general. The gender identity, gender role and sexual orientation show a female pattern in CAIS individuals. In PAIS patients, in general, gender identity aligned with both sex of rearing male or female. Gender change is very rarely described in CAIS and there are just four cases of gender change in individuals with CAIS. Therefore, gender dysphoria in CAIS is considered truly transgenderism. However, sexual functioning and sexual quality of life demonstrated less-positive outcome in CAIS patients in comparison with normal woman. Although there is no inconsistency in gender identity, male PAIS individuals show disappointment with undervirilization signs. The absence or paucity of facial and body hair, the high-pitched voice compromised their self-perception of manhood.

• #125 Androgen Insensitivity Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1429/

  Gynecomastia at puberty and impaired spermatogenesis occur in all individuals with PAIS. […] The external genitalia of affected individuals are unambiguously male. They usually present with gynecomastia at puberty. They may have undermasculinization that includes sparse facial and body hair and small penis. Impotence may be a complaint. Spermatogenesis may or may not be impaired. […] Regular weight-bearing exercises and supplemental calcium and vitamin D are recommended to optimize bone health; bisphosphonate therapy may be indicated for those with evidence of decreased bone mineral density and/or multiple fractures. […] Monitoring of postnatal development of genitalia that were ambiguous at birth for changes that could lead to reconsideration of the assigned sex.

• #126 Living with | NICS Well

  https://www.nicswell.co.uk/conditions-and-treatments/androgen-insensitivity-syndrome/living-with

  Children with androgen insensitivity syndrome (AIS) and their parents will be supported by a team of specialists who can offer ongoing information and care. […] Various treatment options are available to someone with AIS, including reconstructive surgery and hormone therapy. […] Most parents of children with complete androgen insensitivity syndrome (CAIS) choose to raise their child as a girl, as they have female genitals and often ultimately end up identifying with being female. […] Most children with PAIS stay with the gender they’ve been raised as. However, some people feel this doesn’t represent who they are and decide to switch gender in later life. […] It’s usually recommended that a child fully understands their condition before they reach puberty. […] The situation can be more difficult if a girl with CAIS isn’t diagnosed until she has started puberty.

• #127 Living with (3) | NICS Well

  https://www.nicswell.co.uk/conditions-and-treatments/androgen-insensitivity-syndrome/living-with-3

  Children with androgen insensitivity syndrome (AIS) and their parents will be supported by a team of specialists who can offer ongoing information and care. […] Various treatment options are available to someone with AIS, including reconstructive surgery and hormone therapy. […] With appropriate care and support, most people with AIS are able to come to terms with their condition and lead normal lives. […] Most parents of children with complete androgen insensitivity syndrome (CAIS) choose to raise their child as a girl, as they have female genitals and often ultimately end up identifying with being female. […] Most children with PAIS stay with the gender they’ve been raised as. However, some people feel this doesn’t represent who they are and decide to switch gender in later life.

• #128 Androgen Insensitivity Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/androgen-insensitivity-syndrome

  Other symptoms of partial androgen insensitivity syndrome include failure of one or both of the testicles to descend into the scrotum after birth and an abnormal penis in which the urethra opens on the underside, instead of at the tip. In the least severe cases, the only sign of androgen insensitivity syndrome is male infertility. […] Children with androgen insensitivity syndrome will become infertile as adults. However, with psychological support and hormone replacement therapy, they are able to otherwise lead a normal life.

Zobacz więcej