Materiały źródłowe

• #1 Androgen insensitivity syndrome – Wikipedia

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

  AIS represents about 15% to 20% of DSDs and affects 1 in 20,000 to 1 in 64,000 males. […] Estimates for the incidence of androgen insensitivity syndrome are based on a relatively small population size, thus are known to be imprecise. […] CAIS is estimated to occur in one of every 20,400 46,XY births. […] A nationwide survey in the Netherlands based on patients with genetic confirmation of the diagnosis estimates that the minimal incidence of CAIS is one in 99,000. […] The incidence of PAIS is estimated to be one in 130,000. […] Due to its subtle presentation, MAIS is not typically investigated except in the case of male infertility, thus its true prevalence is unknown.

• #2 Androgen insensitivity syndrome: a review – Archives of Endocrinology and Metabolism

  https://www.aem-sbem.com/article/androgen-insensitivity-syndrome-a-review/

  Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. […] Treatment depends on the phenotype and social sex of the individual. […] Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, psychological outcomes and genetic counseling.

• #3 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

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

  The Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) classifies androgen insensitivity syndrome and its subtypes as rare disease, which signifies that it affects less than 20,000 people in the US population. The prevalence of 46XY phenotypic females is low, which limits the data about the age and clinical presentation at diagnosis for AIS. As per a nationwide study in Denmark, all known females with 46XY karyotype females since 1960 were analyzed via medical record evaluation and found to have a prevalence of 6.4 per 100000 live-born females. The prevalence of AIS was found to be 4.1 per 100000 live-born females. The prevalence of CAIS proven via molecular diagnosis is estimated to range from 1 in 20400 to 1 in 99100 genetic males. […] The diagnosis of AIS carries a tremendous negative impact on the patients and their families. It is imperative to follow an interprofessional approach when treating patients with androgen insensitivity syndrome. It requires management by an interprofessional team of healthcare professionals, including an endocrinologist (pediatric or adult), urologist, gynecologist, primary care provider, clinical psychologist, neonatologist, clinical genetics, medical ethics, physician assistants, specialty-trained nurses, and social services. This interprofessional approach assists in appropriate and sensitive management of the condition and prepares the child and the family to overcome the challenges with additional support from patient advocacy groups.

• #4 Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic in: Endocrine Connections Volume 6 Issue 6 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/6/375.xml

  Complete androgen insensitivity syndrome (CAIS) is one of the most common disorders of sex development (DSD) caused by mutations of the androgen receptor gene. The estimated prevalence of AIS is 4.1 per 100,000 live born females. […] Traditionally, prophylactic gonadectomy has been advised because of the risk of malignancy of the intra-abdominal testes, which ranges from 0 to 30%. Current practice is to recommend gonadectomy after completion of puberty. Hormone replacement therapy (HRT) is required after gonadectomy in order to maintain secondary sexual characteristics, bone and cardiovascular health and to promote general wellbeing and sexual function. […] In a clinic offering individualised multidisciplinary care for women with CAIS, we found that the majority of women chose oestrogen-based treatment while a significant minority used testosterone.

• #5 Androgen insensitivity syndrome – Wikipedia

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

  AIS represents about 15% to 20% of DSDs and affects 1 in 20,000 to 1 in 64,000 males. […] Estimates for the incidence of androgen insensitivity syndrome are based on a relatively small population size, thus are known to be imprecise. […] CAIS is estimated to occur in one of every 20,400 46,XY births. […] A nationwide survey in the Netherlands based on patients with genetic confirmation of the diagnosis estimates that the minimal incidence of CAIS is one in 99,000. […] The incidence of PAIS is estimated to be one in 130,000. […] Due to its subtle presentation, MAIS is not typically investigated except in the case of male infertility, thus its true prevalence is unknown.

• #6 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 estimated incidence is between 1/20,000 and 1/99,000 live male births. […] The condition is X-linked recessive. Affected families should be offered genetic counseling in order to be informed of the risk of recurrence and to identify other potential carriers in the family.

• #7 Androgen insensitivity syndrome: MedlinePlus GeneticsLock

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

  Androgen insensitivity syndrome affects sexual development before birth and during puberty. […] Complete androgen insensitivity syndrome affects 2 to 5 in 100,000 newborn females. […] Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. […] Mild androgen insensitivity is much less common.

• #8 Androgen insensitivity syndrome epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Androgen_insensitivity_syndrome_epidemiology_and_demographics

  CAIS (complete androgen insensitivity syndrome) has a prevalence of 2 to 5 per 100,000. The incidence of complete AIS is about in 5 in 100,000. There is no racial predilection for Androgen insensitivity syndrome. […] CAIS (complete androgen insensitivity syndrome) has a prevalence of 2 to 5 per 100,000 in otherwise healthy phenotypic females who had histologically normal inguinal or abdominal testes. […] The incidence of complete AIS is about in 5 in 100,000. The incidence of milder degrees of androgen resistance might be both more common or less common than CAIS. Evidence suggests many cases of unexplained male infertility may be due to the mildest forms of androgen resistance. […] There is no racial predilection for androgen insensitivity syndrome. […] There have been no studies suggesting the difference in the occurrence of AIS in both developed and developing countries.

• #9

  https://omim.org/entry/300068

  A number sign (#) is used with this entry because androgen insensitivity syndrome (AIS) is caused by mutation in the androgen receptor gene (AR; 313700) on chromosome Xq12. […] Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder in which affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal male 46,XY karyotype. Partial androgen insensitivity (PAIS; 312300), also called Reifenstein syndrome, results in hypospadias and micropenis with gynecomastia. […] Patients with androgen insensitivity syndrome often come to medical attention because of a presumed inguinal hernia. Many have absent pubic and axillary hair (’hairless pseudofemale’). […] Incidence 1/20,000-1/64,000 male births. […] Based on patients with molecular proof of the diagnosis in a nationwide study in the Netherlands and previous estimates from the Danish patient registry, Boehmer et al. (2001) estimated that the minimal incidence of AIS is 1:99,000.

• #10 Complete androgen insensitivity syndrome | Biomedical Research

  https://www.currentpediatrics.com/articles/complete-androgen-insensitivity-syndrome-in-a-saudi-adolescent-girl-a-case-report-11382.html

  Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder, resulting in impaired development of male physical traits. CAIS occurs in an estimated 1 in 20,000 to 64,000 newborn males. […] Androgen insensitivity syndrome (AIS) is a Mendelian mode of inheritance (X-linked) disorder with an estimated incidence of 1 in 20,000 to 1 in 62,000 males. […] CAIS is a classic type of AIS with an estimated prevalence of 1 in 20,000 to 64,000 newborn males. […] CAIS accounts for approximately 10% of primary amenorrhea cases. […] CAIS is a rare disorder and many more cases need to be studied to acquire a better understanding and awareness of the disease. Prenatal screening for ambiguous genitalia should be done as early as possible, followed by imaging of any suspected cases at birth to address future physical and psychiatric issues.

• #11 Androgen insensitivity syndrome – Wikipedia

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

  AIS represents about 15% to 20% of DSDs and affects 1 in 20,000 to 1 in 64,000 males. […] Estimates for the incidence of androgen insensitivity syndrome are based on a relatively small population size, thus are known to be imprecise. […] CAIS is estimated to occur in one of every 20,400 46,XY births. […] A nationwide survey in the Netherlands based on patients with genetic confirmation of the diagnosis estimates that the minimal incidence of CAIS is one in 99,000. […] The incidence of PAIS is estimated to be one in 130,000. […] Due to its subtle presentation, MAIS is not typically investigated except in the case of male infertility, thus its true prevalence is unknown.

• #12 Complete androgen insensitivity syndrome | Biomedical Research

  https://www.currentpediatrics.com/articles/complete-androgen-insensitivity-syndrome-in-a-saudi-adolescent-girl-a-case-report-11382.html

  Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder, resulting in impaired development of male physical traits. CAIS occurs in an estimated 1 in 20,000 to 64,000 newborn males. […] Androgen insensitivity syndrome (AIS) is a Mendelian mode of inheritance (X-linked) disorder with an estimated incidence of 1 in 20,000 to 1 in 62,000 males. […] CAIS is a classic type of AIS with an estimated prevalence of 1 in 20,000 to 64,000 newborn males. […] CAIS accounts for approximately 10% of primary amenorrhea cases. […] CAIS is a rare disorder and many more cases need to be studied to acquire a better understanding and awareness of the disease. Prenatal screening for ambiguous genitalia should be done as early as possible, followed by imaging of any suspected cases at birth to address future physical and psychiatric issues.

• #13 Androgen insensitivity syndrome – Wikipedia

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

  AIS represents about 15% to 20% of DSDs and affects 1 in 20,000 to 1 in 64,000 males. […] Estimates for the incidence of androgen insensitivity syndrome are based on a relatively small population size, thus are known to be imprecise. […] CAIS is estimated to occur in one of every 20,400 46,XY births. […] A nationwide survey in the Netherlands based on patients with genetic confirmation of the diagnosis estimates that the minimal incidence of CAIS is one in 99,000. […] The incidence of PAIS is estimated to be one in 130,000. […] Due to its subtle presentation, MAIS is not typically investigated except in the case of male infertility, thus its true prevalence is unknown.

• #14

  https://journals.lww.com/ipcr/fulltext/2023/03040/partial_androgen_insensitivity_syndrome_.11.aspx

  Androgen insensitivity syndrome is an X-linked genetic disease characterized by resistance to the actions of androgen in an individual with 46, XY karyotype. It is one of the most common causes of Disorders of sex development (DSD). […] Androgen insensitivity syndrome (AIS) is an X-linked disorder and represents one of the most frequent Disorders of sex development (DSD). A wide phenotypic spectrum may be seen, ranging from normal female external genitalia in the complete form (complete AIS [CAIS]) to normal male external genitalia associated with infertility and/or gynecomastia in the mild form (mild AIS [MAIS]). Besides, many individuals have various degrees of undervirilization, which are termed partial AIS (PAIS). […] While complete AIS has a prevalence of 1:20,0001:64,000, PAIS has a prevalence of 1:30,000.

• #15 Androgen Insensitivity Syndrome: Complete & Partial

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

  Androgen insensitivity syndrome is rare. About 1 in 99,000 male infants are born with partial androgen insensitivity syndrome and 2 to 5 per 100,000 are born with complete androgen insensitivity syndrome. […] Males who inherit an abnormal gene, called the androgen receptor (AR) gene, from their mothers have a 1 in 4 chance of developing AIS. […] If you have a family history of AIS, you may choose to have genetic testing if you’re considering having children. These tests can tell you if you’re a carrier of the abnormal gene. […] 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).

• #16 Orphanet: Partial androgen insensitivity syndrome

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

  A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. […] There are no available data on the prevalence of PAIS in the general population. Nevertheless, resistance to androgens is the most frequent cause of XY DSD. […] The condition is X-linked recessive. Affected families should be offered genetic counseling only when an AR gene mutation has been identified and shown to be pathogenic. Counseling should be based on the variable expression of the same AR mutation between, and even within, affected families.

• #17 Orphanet: Partial androgen insensitivity syndrome

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

  A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. […] There are no available data on the prevalence of PAIS in the general population. Nevertheless, resistance to androgens is the most frequent cause of XY DSD. […] The condition is X-linked recessive. Affected families should be offered genetic counseling only when an AR gene mutation has been identified and shown to be pathogenic. Counseling should be based on the variable expression of the same AR mutation between, and even within, affected families.

• #18 Androgen insensitivity syndrome: MedlinePlus GeneticsLock

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

  Androgen insensitivity syndrome affects sexual development before birth and during puberty. […] Complete androgen insensitivity syndrome affects 2 to 5 in 100,000 newborn females. […] Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. […] Mild androgen insensitivity is much less common.

• #19 Androgen insensitivity syndrome – Wikipedia

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

  AIS represents about 15% to 20% of DSDs and affects 1 in 20,000 to 1 in 64,000 males. […] Estimates for the incidence of androgen insensitivity syndrome are based on a relatively small population size, thus are known to be imprecise. […] CAIS is estimated to occur in one of every 20,400 46,XY births. […] A nationwide survey in the Netherlands based on patients with genetic confirmation of the diagnosis estimates that the minimal incidence of CAIS is one in 99,000. […] The incidence of PAIS is estimated to be one in 130,000. […] Due to its subtle presentation, MAIS is not typically investigated except in the case of male infertility, thus its true prevalence is unknown.

• #20 Androgen insensitivity syndrome epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Androgen_insensitivity_syndrome_epidemiology_and_demographics

  CAIS (complete androgen insensitivity syndrome) has a prevalence of 2 to 5 per 100,000. The incidence of complete AIS is about in 5 in 100,000. There is no racial predilection for Androgen insensitivity syndrome. […] CAIS (complete androgen insensitivity syndrome) has a prevalence of 2 to 5 per 100,000 in otherwise healthy phenotypic females who had histologically normal inguinal or abdominal testes. […] The incidence of complete AIS is about in 5 in 100,000. The incidence of milder degrees of androgen resistance might be both more common or less common than CAIS. Evidence suggests many cases of unexplained male infertility may be due to the mildest forms of androgen resistance. […] There is no racial predilection for androgen insensitivity syndrome. […] There have been no studies suggesting the difference in the occurrence of AIS in both developed and developing countries.

• #21 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 estimated incidence is between 1/20,000 and 1/99,000 live male births. […] The condition is X-linked recessive. Affected families should be offered genetic counseling in order to be informed of the risk of recurrence and to identify other potential carriers in the family.

• #22

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

  Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients. More than 900 androgen receptor mutations that can lead to AIS have been identified. The complete androgen insensitivity is characterized by a total lack of response to androgens, usually in patients with 46XY karyotype but with feminine phenotype. Primary amenorrhoea and inguinal swellings in female patients are the main signs that could raise suspicion for this syndrome. Patients with partial androgen insensitivity have ambiguous genitalia at birth and gynecomastia during puberty, whereas those with mild androgen insensitivity present a normal male phenotype but altered spermatogenesis during adulthood and pubertal gynecomastia. The diagnosis of AIS often proves to be a challenge; its management is complex and requires a multidisciplinary approach to meet decision-making challenges in sex assignment, fertility and timing of gonadectomy, psychological outcomes and genetic counselling.

• #23

  https://omim.org/entry/300068

  A number sign (#) is used with this entry because androgen insensitivity syndrome (AIS) is caused by mutation in the androgen receptor gene (AR; 313700) on chromosome Xq12. […] Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder in which affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal male 46,XY karyotype. Partial androgen insensitivity (PAIS; 312300), also called Reifenstein syndrome, results in hypospadias and micropenis with gynecomastia. […] Patients with androgen insensitivity syndrome often come to medical attention because of a presumed inguinal hernia. Many have absent pubic and axillary hair (’hairless pseudofemale’). […] Incidence 1/20,000-1/64,000 male births. […] Based on patients with molecular proof of the diagnosis in a nationwide study in the Netherlands and previous estimates from the Danish patient registry, Boehmer et al. (2001) estimated that the minimal incidence of AIS is 1:99,000.

• #24 Androgen Insensitivity Syndrome: Complete & Partial

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

  Androgen insensitivity syndrome is rare. About 1 in 99,000 male infants are born with partial androgen insensitivity syndrome and 2 to 5 per 100,000 are born with complete androgen insensitivity syndrome. […] Males who inherit an abnormal gene, called the androgen receptor (AR) gene, from their mothers have a 1 in 4 chance of developing AIS. […] If you have a family history of AIS, you may choose to have genetic testing if you’re considering having children. These tests can tell you if you’re a carrier of the abnormal gene. […] 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).

• #25 Androgen insensitivity syndrome Information | Mount Sinai – New York

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

  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. […] Androgen insensitivity syndrome is one of the conditions that are described as differences of sex development (DSD). […] The syndrome is passed down genetically (X-linked recessive inheritance). People with two X chromosomes are not affected if only one copy of the X chromosome carries the genetic variant. Males who inherit the gene from their mothers will have the condition. There is a 50% chance that a male child of a mother with the genetic trait will be affected. Every female child of a mother with the genetic trait has a 50% chance of carrying the genetic trait. Family history is important in determining risk factors of AIS. […] Contact your health care provider if you or your child has signs or symptoms of the syndrome. Genetic testing and counseling are recommended if AIS is suspected.

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

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

  The AIS diagnosis is confirmed by the presence of allelic variants in the AR gene. About 30% of AR mutations in AIS are de novo and sequencing of the entire AR gene is recommended for all 46,XY DSD newborns, regardless of a familial history of DSD or AIS. In the absence of allelic variants in AR, a multiplex ligation-dependent probe amplification (MLPA) can be helpful in order to detect deletions, insertions and duplications in the AR gene.

• #27

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

  Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients. More than 900 androgen receptor mutations that can lead to AIS have been identified. The complete androgen insensitivity is characterized by a total lack of response to androgens, usually in patients with 46XY karyotype but with feminine phenotype. Primary amenorrhoea and inguinal swellings in female patients are the main signs that could raise suspicion for this syndrome. Patients with partial androgen insensitivity have ambiguous genitalia at birth and gynecomastia during puberty, whereas those with mild androgen insensitivity present a normal male phenotype but altered spermatogenesis during adulthood and pubertal gynecomastia. The diagnosis of AIS often proves to be a challenge; its management is complex and requires a multidisciplinary approach to meet decision-making challenges in sex assignment, fertility and timing of gonadectomy, psychological outcomes and genetic counselling.

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

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

  The AIS diagnosis is confirmed by the presence of allelic variants in the AR gene. About 30% of AR mutations in AIS are de novo and sequencing of the entire AR gene is recommended for all 46,XY DSD newborns, regardless of a familial history of DSD or AIS. In the absence of allelic variants in AR, a multiplex ligation-dependent probe amplification (MLPA) can be helpful in order to detect deletions, insertions and duplications in the AR gene.

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

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

  Androgen insensitivity syndrome is a genetic condition which affects a childs sexual development before birth and during puberty. […] In complete androgen insensitivity syndrome, the body does not respond to androgen at all. This form of the syndrome occurs in as many as 1 in 20,000 births. […] In partial androgen insensitivity syndrome, the body responds partially to androgen. Partial androgen insensitivity occurs at about the same rate as complete androgen insensitivity syndrome. […] Complete androgen insensitivity syndrome may be discovered in infancy when a testicle is felt as a mass in the groin or abdomen. However, in most cases, the syndrome isnt diagnosed until adolescence or later. […] Partial androgen insensitivity may be diagnosed at birth because of the presence of male and female sexual traits. […] Tests used to confirm this condition include blood work to check hormone levels, genetic testing and pelvic ultrasound.

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

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

  Androgen insensitivity syndrome is a genetic condition which affects a childs sexual development before birth and during puberty. […] In complete androgen insensitivity syndrome, the body does not respond to androgen at all. This form of the syndrome occurs in as many as 1 in 20,000 births. […] In partial androgen insensitivity syndrome, the body responds partially to androgen. Partial androgen insensitivity occurs at about the same rate as complete androgen insensitivity syndrome. […] Complete androgen insensitivity syndrome may be discovered in infancy when a testicle is felt as a mass in the groin or abdomen. However, in most cases, the syndrome isnt diagnosed until adolescence or later. […] Partial androgen insensitivity may be diagnosed at birth because of the presence of male and female sexual traits. […] Tests used to confirm this condition include blood work to check hormone levels, genetic testing and pelvic ultrasound.

• #31 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. […] 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. […] The genetic analysis of the karyotype and the identification of the androgen receptor (AR) gene mutations will confirm the suspicion and diagnosis of CAIS. […] The management of CAIS symptoms needs a multidisciplinary approach to establish a correct assessment, and direct to adequate counselling. […] Hormone therapy is needed not only for people undergoing gonadectomy before puberty, but also for those undergoing surgery during or after adolescence to complete or maintain female secondary sex characteristics.

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

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

  Androgen insensitivity syndrome is a genetic condition which affects a childs sexual development before birth and during puberty. […] In complete androgen insensitivity syndrome, the body does not respond to androgen at all. This form of the syndrome occurs in as many as 1 in 20,000 births. […] In partial androgen insensitivity syndrome, the body responds partially to androgen. Partial androgen insensitivity occurs at about the same rate as complete androgen insensitivity syndrome. […] Complete androgen insensitivity syndrome may be discovered in infancy when a testicle is felt as a mass in the groin or abdomen. However, in most cases, the syndrome isnt diagnosed until adolescence or later. […] Partial androgen insensitivity may be diagnosed at birth because of the presence of male and female sexual traits. […] Tests used to confirm this condition include blood work to check hormone levels, genetic testing and pelvic ultrasound.

• #33 Partial Androgen Insensitivity Syndrome – ISS

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

  The Androgen Insensitivity Syndrome (AIS) is the most common form of Variation in Sex Characteristics (VSC)/Difference of Sex Development (DSD) in individuals with XY chromosomes. […] The condition is usually recognized clinically at birth by the presence of atypical male external genitalia and palpable testicles. […] In PAIS individuals whose testicles have not descended into the scrotum, the risk of developing testicular cancer after puberty rises to 50%; they must therefore resort to preventive strategies. […] It is possible to set up annual monitoring via ultrasound or magnetic resonance, depending on the case, to promptly identify any new potentially malignant testicular lesions.

• #34

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

  Androgen insensitivity syndrome (AIS) is sometimes diagnosed soon after a baby is born, although often it’s not noticed until a child reaches puberty. […] If AIS is suspected, blood tests can be used to: check the sex chromosomes sex chromosomes are bundles of genetic material that determine a person’s genetic sex; if their genetic sex is different from their physical appearance, they may have AIS […] Testing can also be carried out in unborn babies when there’s a known family history of AIS. […] There are 2 main tests that can be carried out during pregnancy to determine whether a baby has AIS: chorionic villus sampling (CVS) a sample of cells is removed from the placenta for testing, usually with a needle; this is usually carried out between week 11 and week 14 of pregnancy […] amniocentesis a needle is used to extract a sample of the fluid surrounding the baby (amniotic fluid) for testing; this is usually carried out between week 15 and week 20 of pregnancy.

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

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

  Androgen insensitivity syndrome is a genetic condition which affects a childs sexual development before birth and during puberty. […] In complete androgen insensitivity syndrome, the body does not respond to androgen at all. This form of the syndrome occurs in as many as 1 in 20,000 births. […] In partial androgen insensitivity syndrome, the body responds partially to androgen. Partial androgen insensitivity occurs at about the same rate as complete androgen insensitivity syndrome. […] Complete androgen insensitivity syndrome may be discovered in infancy when a testicle is felt as a mass in the groin or abdomen. However, in most cases, the syndrome isnt diagnosed until adolescence or later. […] Partial androgen insensitivity may be diagnosed at birth because of the presence of male and female sexual traits. […] Tests used to confirm this condition include blood work to check hormone levels, genetic testing and pelvic ultrasound.

• #36 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. […] 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. […] The genetic analysis of the karyotype and the identification of the androgen receptor (AR) gene mutations will confirm the suspicion and diagnosis of CAIS. […] The management of CAIS symptoms needs a multidisciplinary approach to establish a correct assessment, and direct to adequate counselling. […] Hormone therapy is needed not only for people undergoing gonadectomy before puberty, but also for those undergoing surgery during or after adolescence to complete or maintain female secondary sex characteristics.

• #37

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

  Androgen insensitivity syndrome (AIS) is sometimes diagnosed soon after a baby is born, although often it’s not noticed until a child reaches puberty. […] If AIS is suspected, blood tests can be used to: check the sex chromosomes sex chromosomes are bundles of genetic material that determine a person’s genetic sex; if their genetic sex is different from their physical appearance, they may have AIS […] Testing can also be carried out in unborn babies when there’s a known family history of AIS. […] There are 2 main tests that can be carried out during pregnancy to determine whether a baby has AIS: chorionic villus sampling (CVS) a sample of cells is removed from the placenta for testing, usually with a needle; this is usually carried out between week 11 and week 14 of pregnancy […] amniocentesis a needle is used to extract a sample of the fluid surrounding the baby (amniotic fluid) for testing; this is usually carried out between week 15 and week 20 of pregnancy.

• #38 Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk

  https://www.mdpi.com/2079-9721/12/10/235

  Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development classified by the National Institutes of Health’s Rare Diseases as a condition affecting approximately 1 in 20,000–99,000 XY individuals, resulting in a complete female phenotype, despite having a 46,XY karyotype and testes as gonads. […] The management of CAIS may require gonadectomy although the decision-making process is troubling and requires extreme caution. […] The necessity of gonadectomy in individuals with CAIS continues to be a major topic of debate. CAIS is associated with an increased risk of testicular germ cell tumors (TGCT), which supports the removal of gonads to prevent testicular cancer. […] Recent studies have further elucidated this debate, demonstrating that the risk of developing TGCT is a significant factor in deciding the timing of gonadectomy.

• #39

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

  Androgen insensitivity syndrome has complex and varied clinical manifestations which pose many challenges for physicians and patients. The clinical manifestations may be specific to each phenotype, depending on the degree of androgen insensitivity. […] The estimated risk of benign testicular tumours in patients with undescended testes during adulthood is approximately 25%, whereas the risk for malignant testicular tumours is lower, being estimated between 3% and 10%. This risk is negligible during childhood and adolescence ( 1%) in CAIS patients, but it increases with age, being estimated 3.5% at 25 years, and as high as 33% at 50 years. […] In patients with PAIS and undescended testes, the incidence of testicular malignant degeneration is significantly higher compared to CAIS patients, up to 50%. Therefore, in order to avoid this risk, scrotal orchidopexy should be recommended in all PAIS male patients and laparoscopic orchiectomy in female PAIS patients.

• #40

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

  Androgen insensitivity syndrome has complex and varied clinical manifestations which pose many challenges for physicians and patients. The clinical manifestations may be specific to each phenotype, depending on the degree of androgen insensitivity. […] The estimated risk of benign testicular tumours in patients with undescended testes during adulthood is approximately 25%, whereas the risk for malignant testicular tumours is lower, being estimated between 3% and 10%. This risk is negligible during childhood and adolescence ( 1%) in CAIS patients, but it increases with age, being estimated 3.5% at 25 years, and as high as 33% at 50 years. […] In patients with PAIS and undescended testes, the incidence of testicular malignant degeneration is significantly higher compared to CAIS patients, up to 50%. Therefore, in order to avoid this risk, scrotal orchidopexy should be recommended in all PAIS male patients and laparoscopic orchiectomy in female PAIS patients.

• #41 Complete Androgen Insensitivity Syndrome – ISS

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

  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. […] Consequently, the choice to remove the gonads (gonadectomy) can be postponed until adulthood; this allows the person to make an independent decision, as well as to optimize growth in height and bone maturation.

• #42

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

  Androgen insensitivity syndrome has complex and varied clinical manifestations which pose many challenges for physicians and patients. The clinical manifestations may be specific to each phenotype, depending on the degree of androgen insensitivity. […] The estimated risk of benign testicular tumours in patients with undescended testes during adulthood is approximately 25%, whereas the risk for malignant testicular tumours is lower, being estimated between 3% and 10%. This risk is negligible during childhood and adolescence ( 1%) in CAIS patients, but it increases with age, being estimated 3.5% at 25 years, and as high as 33% at 50 years. […] In patients with PAIS and undescended testes, the incidence of testicular malignant degeneration is significantly higher compared to CAIS patients, up to 50%. Therefore, in order to avoid this risk, scrotal orchidopexy should be recommended in all PAIS male patients and laparoscopic orchiectomy in female PAIS patients.

• #43 Partial Androgen Insensitivity Syndrome – ISS

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

  The Androgen Insensitivity Syndrome (AIS) is the most common form of Variation in Sex Characteristics (VSC)/Difference of Sex Development (DSD) in individuals with XY chromosomes. […] The condition is usually recognized clinically at birth by the presence of atypical male external genitalia and palpable testicles. […] In PAIS individuals whose testicles have not descended into the scrotum, the risk of developing testicular cancer after puberty rises to 50%; they must therefore resort to preventive strategies. […] It is possible to set up annual monitoring via ultrasound or magnetic resonance, depending on the case, to promptly identify any new potentially malignant testicular lesions.

• #44 Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic in: Endocrine Connections Volume 6 Issue 6 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/6/375.xml

  Complete androgen insensitivity syndrome (CAIS) is one of the most common disorders of sex development (DSD) caused by mutations of the androgen receptor gene. The estimated prevalence of AIS is 4.1 per 100,000 live born females. […] Traditionally, prophylactic gonadectomy has been advised because of the risk of malignancy of the intra-abdominal testes, which ranges from 0 to 30%. Current practice is to recommend gonadectomy after completion of puberty. Hormone replacement therapy (HRT) is required after gonadectomy in order to maintain secondary sexual characteristics, bone and cardiovascular health and to promote general wellbeing and sexual function. […] In a clinic offering individualised multidisciplinary care for women with CAIS, we found that the majority of women chose oestrogen-based treatment while a significant minority used testosterone.

• #45 Complete Androgen Insensitivity Syndrome – ISS

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

  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. […] Consequently, the choice to remove the gonads (gonadectomy) can be postponed until adulthood; this allows the person to make an independent decision, as well as to optimize growth in height and bone maturation.

• #46

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

  Androgen insensitivity syndrome has complex and varied clinical manifestations which pose many challenges for physicians and patients. The clinical manifestations may be specific to each phenotype, depending on the degree of androgen insensitivity. […] The estimated risk of benign testicular tumours in patients with undescended testes during adulthood is approximately 25%, whereas the risk for malignant testicular tumours is lower, being estimated between 3% and 10%. This risk is negligible during childhood and adolescence ( 1%) in CAIS patients, but it increases with age, being estimated 3.5% at 25 years, and as high as 33% at 50 years. […] In patients with PAIS and undescended testes, the incidence of testicular malignant degeneration is significantly higher compared to CAIS patients, up to 50%. Therefore, in order to avoid this risk, scrotal orchidopexy should be recommended in all PAIS male patients and laparoscopic orchiectomy in female PAIS patients.

• #47

  https://journals.lww.com/ajps/fulltext/2011/08020/androgen_insensitivity_syndrome__risk_of.13.aspx

  We strongly encourage the tendency to perform an early gonadectomy in female phenotype-assigned patients whenever the diagnosis of PAIS is made. […] Based on our study, it seems to be particularly important in PAIS patients in whom broad spectrum of defect mutations and genetic mechanisms underlying this syndrome may „hide” significant risk for malignancy. […] In post-pubertal patients with androgen insensitivity syndrome, literature review revealed quite standardised approach among the centres and prophylactic removal of gonads is usually recommended. […] This therapeutic approach thereby eliminates the risk of malignancies of gonadal origin with low operative risk and huge benefit. We strongly suggest consideration of early laparoscopic gonadectomy in routine management of the practice for PAIS female phenotype-assigned patients.

• #48 Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk

  https://www.mdpi.com/2079-9721/12/10/235

  Multiple surveillance options are available to assess the risk of malignant transformation if gonadectomy is delayed. […] Imaging studies are pivotal in the assessment of undescended gonads, particularly in CAIS, and MRI has emerged as a valuable tool to discern histopathological features in such patients. […] Despite the usefulness of pelvic ultrasound in studying gonads, it is operator-dependent; moreover, in pediatric patients, if not performed by a dedicated resident, it may fail to identify pelvic-located gonads. […] Gonadectomy has been recommended for patients in the higher-risk group, which included patients with gonadal dysgenesis (XY), partial androgen insensitivity, and Denys–Drash syndrome. […] Hormonal replacement therapy (HRT) becomes imperative following bilateral gonadectomy to mitigate hypoestrogenism.

• #49 Partial Androgen Insensitivity Syndrome – ISS

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

  The Androgen Insensitivity Syndrome (AIS) is the most common form of Variation in Sex Characteristics (VSC)/Difference of Sex Development (DSD) in individuals with XY chromosomes. […] The condition is usually recognized clinically at birth by the presence of atypical male external genitalia and palpable testicles. […] In PAIS individuals whose testicles have not descended into the scrotum, the risk of developing testicular cancer after puberty rises to 50%; they must therefore resort to preventive strategies. […] It is possible to set up annual monitoring via ultrasound or magnetic resonance, depending on the case, to promptly identify any new potentially malignant testicular lesions.

• #50 SPU – Gonadal Relocation: Enhancing Options For Patients With Androgen Insensitivity Syndrome

  https://fallcongress.spuonline.org/program/2024/P29.cgi

  Management of intra-abdominal gonads (IAG) in patients with Androgen Insensitivity Syndrome (AIS) remains controversial. […] Despite the very low risk of tumor development and advantages of maintaining endogenous hormone production, many physicians still advise patients to undergo gonadectomy. […] To provide patients with a greater range of choices, while mitigating concerns over difficulty with monitoring for rare cases of tumor, we have relocated the IAG to an inguinal location where they can be more safely monitored with palpation and ultrasound. […] This is the first reported series of successful relocation of IAG to the inguinal region achieved in patients with AIS. […] This technique allows for preservation of the gonads and thereby provides the patient with a greater range of choices for how to manage their condition. […] Gonads are situated in a location where serial monitoring with palpation and ultrasound is made more practical and future biopsies, if needed, can be easily achieved in the outpatient setting.

• #51 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

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

  The Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) classifies androgen insensitivity syndrome and its subtypes as rare disease, which signifies that it affects less than 20,000 people in the US population. The prevalence of 46XY phenotypic females is low, which limits the data about the age and clinical presentation at diagnosis for AIS. As per a nationwide study in Denmark, all known females with 46XY karyotype females since 1960 were analyzed via medical record evaluation and found to have a prevalence of 6.4 per 100000 live-born females. The prevalence of AIS was found to be 4.1 per 100000 live-born females. The prevalence of CAIS proven via molecular diagnosis is estimated to range from 1 in 20400 to 1 in 99100 genetic males. […] The diagnosis of AIS carries a tremendous negative impact on the patients and their families. It is imperative to follow an interprofessional approach when treating patients with androgen insensitivity syndrome. It requires management by an interprofessional team of healthcare professionals, including an endocrinologist (pediatric or adult), urologist, gynecologist, primary care provider, clinical psychologist, neonatologist, clinical genetics, medical ethics, physician assistants, specialty-trained nurses, and social services. This interprofessional approach assists in appropriate and sensitive management of the condition and prepares the child and the family to overcome the challenges with additional support from patient advocacy groups.

• #52 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

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

  The Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) classifies androgen insensitivity syndrome and its subtypes as rare disease, which signifies that it affects less than 20,000 people in the US population. The prevalence of 46XY phenotypic females is low, which limits the data about the age and clinical presentation at diagnosis for AIS. As per a nationwide study in Denmark, all known females with 46XY karyotype females since 1960 were analyzed via medical record evaluation and found to have a prevalence of 6.4 per 100000 live-born females. The prevalence of AIS was found to be 4.1 per 100000 live-born females. The prevalence of CAIS proven via molecular diagnosis is estimated to range from 1 in 20400 to 1 in 99100 genetic males. […] The diagnosis of AIS carries a tremendous negative impact on the patients and their families. It is imperative to follow an interprofessional approach when treating patients with androgen insensitivity syndrome. It requires management by an interprofessional team of healthcare professionals, including an endocrinologist (pediatric or adult), urologist, gynecologist, primary care provider, clinical psychologist, neonatologist, clinical genetics, medical ethics, physician assistants, specialty-trained nurses, and social services. This interprofessional approach assists in appropriate and sensitive management of the condition and prepares the child and the family to overcome the challenges with additional support from patient advocacy groups.

• #53

  https://link.springer.com/article/10.1007/s40618-023-02127-y

  Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype. […] AIS is determined by a large variety of X-linked mutations that account for the wide phenotypic spectrum of subjects; it represents one of the most frequent disorders of sexual development (DSD). […] Clinical suspicion can arise at birth in partial AIS, due to the presence of variable degrees of ambiguity of the external genitalia, and at pubertal age in complete AIS, due to the development of female secondary sex characteristics, primary amenorrhea, and absence of female primary sex characteristics (uterus and ovaries). […] The clinical phenotype and especially the decision on sex assignment of the patient, if the diagnosis is made at birth or in the neonatal period, will guide the following medical, surgical and psychological management. […] For the management of AIS, a multidisciplinary team consisting of physicians, surgeons, and psychologists is highly recommended to support the patient and his/her family on gender identity choices and subsequent appropriate therapeutic decisions.

• #54 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

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

  The Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) classifies androgen insensitivity syndrome and its subtypes as rare disease, which signifies that it affects less than 20,000 people in the US population. The prevalence of 46XY phenotypic females is low, which limits the data about the age and clinical presentation at diagnosis for AIS. As per a nationwide study in Denmark, all known females with 46XY karyotype females since 1960 were analyzed via medical record evaluation and found to have a prevalence of 6.4 per 100000 live-born females. The prevalence of AIS was found to be 4.1 per 100000 live-born females. The prevalence of CAIS proven via molecular diagnosis is estimated to range from 1 in 20400 to 1 in 99100 genetic males. […] The diagnosis of AIS carries a tremendous negative impact on the patients and their families. It is imperative to follow an interprofessional approach when treating patients with androgen insensitivity syndrome. It requires management by an interprofessional team of healthcare professionals, including an endocrinologist (pediatric or adult), urologist, gynecologist, primary care provider, clinical psychologist, neonatologist, clinical genetics, medical ethics, physician assistants, specialty-trained nurses, and social services. This interprofessional approach assists in appropriate and sensitive management of the condition and prepares the child and the family to overcome the challenges with additional support from patient advocacy groups.

• #55 Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk

  https://www.mdpi.com/2079-9721/12/10/235

  Multiple surveillance options are available to assess the risk of malignant transformation if gonadectomy is delayed. […] Imaging studies are pivotal in the assessment of undescended gonads, particularly in CAIS, and MRI has emerged as a valuable tool to discern histopathological features in such patients. […] Despite the usefulness of pelvic ultrasound in studying gonads, it is operator-dependent; moreover, in pediatric patients, if not performed by a dedicated resident, it may fail to identify pelvic-located gonads. […] Gonadectomy has been recommended for patients in the higher-risk group, which included patients with gonadal dysgenesis (XY), partial androgen insensitivity, and Denys–Drash syndrome. […] Hormonal replacement therapy (HRT) becomes imperative following bilateral gonadectomy to mitigate hypoestrogenism.

• #56 Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk

  https://www.mdpi.com/2079-9721/12/10/235

  The timing and dosage of HRT are tailored to individual needs, reflecting the complexity of managing hormonal changes post-gonadectomy. […] A critical aspect of the gonadectomy decision is the psychosocial impact on the individual. This aspect cannot be overstated as the psychological and social dimensions play a significant role in the overall treatment strategy.

• #57 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. […] 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. […] The genetic analysis of the karyotype and the identification of the androgen receptor (AR) gene mutations will confirm the suspicion and diagnosis of CAIS. […] The management of CAIS symptoms needs a multidisciplinary approach to establish a correct assessment, and direct to adequate counselling. […] Hormone therapy is needed not only for people undergoing gonadectomy before puberty, but also for those undergoing surgery during or after adolescence to complete or maintain female secondary sex characteristics.

• #58 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 estimated incidence is between 1/20,000 and 1/99,000 live male births. […] The condition is X-linked recessive. Affected families should be offered genetic counseling in order to be informed of the risk of recurrence and to identify other potential carriers in the family.

• #59 Orphanet: Partial androgen insensitivity syndrome

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

  A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. […] There are no available data on the prevalence of PAIS in the general population. Nevertheless, resistance to androgens is the most frequent cause of XY DSD. […] The condition is X-linked recessive. Affected families should be offered genetic counseling only when an AR gene mutation has been identified and shown to be pathogenic. Counseling should be based on the variable expression of the same AR mutation between, and even within, affected families.

• #60 Androgen Insensitivity Syndrome: Complete & Partial

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

  Androgen insensitivity syndrome is rare. About 1 in 99,000 male infants are born with partial androgen insensitivity syndrome and 2 to 5 per 100,000 are born with complete androgen insensitivity syndrome. […] Males who inherit an abnormal gene, called the androgen receptor (AR) gene, from their mothers have a 1 in 4 chance of developing AIS. […] If you have a family history of AIS, you may choose to have genetic testing if you’re considering having children. These tests can tell you if you’re a carrier of the abnormal gene. […] 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).

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

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

  If you are wondering if you are a carrier, or if you know that you are a carrier and are wondering about the status of your fetus, genetic testing is possible. AIS has been diagnosed as early as 9-12 weeks gestation by chorionic villus sampling (sampling tissue from the fetal side of the placenta). By the 16th week it can be detected by ultrasound and amniocentesis. However, prenatal diagnosis is not indicated unless there is a family history of AIS.

• #62 Top Published Expert Doctors for Androgen-Insensitivity Syndrome

  https://findexpertmd.com/d/Androgen-Insensitivity_Syndrome

  277 top medical experts on Androgen-Insensitivity Syndrome across 46 countries and 23 U.S. states, including 112 MDs (Physicians). […] Androgen-Insensitivity Syndrome: A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (receptors, androgen) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. […] Clinical Trials ClinicalTrials.gov: at least 2 including 1 Recruiting.

• #63 Androgen Insensitivity Syndrome Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034

  https://www.researchandmarkets.com/reports/5970360/androgen-insensitivity-syndrome-market?srsltid=AfmBOop-I6yi43tBNrhaFPSathd7I34fauzS6wK9Yr77bj7mfdsOq3om

  The 7 major androgen insensitivity syndrome markets reached a value of US$ 378.0 Million in 2023. Looking forward, the publisher expects the 7MM to reach US$ 633.1 Million by 2034, exhibiting a growth rate (CAGR) of 5.90% during 2023-2034. […] The escalating incidences of genetic mutations affecting the androgen receptor’s functionality are primarily driving the androgen insensitivity syndrome market. […] Moreover, the widespread adoption of genetic counseling and diagnostic advancements that help in facilitating early detection and personalized management strategies by better understanding and addressing the complex spectrum of AIS is further bolstering the market growth. […] Additionally, the emerging popularity of reproductive technologies, like in vitro fertilization with preimplantation genetic testing, that offers prospects for individuals suffering from AIS to achieve parenthood aspirations, is also augmenting the market growth.

• #64 Androgen Insensitivity Syndrome Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034

  https://www.researchandmarkets.com/reports/5970360/androgen-insensitivity-syndrome-market?srsltid=AfmBOop-I6yi43tBNrhaFPSathd7I34fauzS6wK9Yr77bj7mfdsOq3om

  The 7 major androgen insensitivity syndrome markets reached a value of US$ 378.0 Million in 2023. Looking forward, the publisher expects the 7MM to reach US$ 633.1 Million by 2034, exhibiting a growth rate (CAGR) of 5.90% during 2023-2034. […] The escalating incidences of genetic mutations affecting the androgen receptor’s functionality are primarily driving the androgen insensitivity syndrome market. […] Moreover, the widespread adoption of genetic counseling and diagnostic advancements that help in facilitating early detection and personalized management strategies by better understanding and addressing the complex spectrum of AIS is further bolstering the market growth. […] Additionally, the emerging popularity of reproductive technologies, like in vitro fertilization with preimplantation genetic testing, that offers prospects for individuals suffering from AIS to achieve parenthood aspirations, is also augmenting the market growth.

• #65 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20230327/Discovery-enables-a-clear-diagnosis-for-more-patients-with-androgen-insensitivity-syndrome.aspx

  The researchers became aware of the previously unknown connection between actin and steroid hormones while studying the cells of patients with a so-called androgen insensitivity syndrome (AIS). […] The discovery also provides a basis for further research on the development of sexual characteristics and enables a clear diagnosis for more patients with AIS: „Previously, patients with androgen insensitivity but without a modification in the androgen receptor did not receive a clear diagnosis despite having clear symptoms,” says Hornig. „Now we can make a clear diagnosis for those in whom DAAM2 is altered.”

• #66 Androgen Insensitivity Syndrome – Epidemiology Forecast – 2032

  https://www.researchandmarkets.com/reports/5525229/androgen-insensitivity-syndrome-epidemiology?srsltid=AfmBOoqQ2kZkjqu-5eNaypQYIggU8PZiJGG1OL3xlNTIOE0GvRRZwFjQ

• #67

  https://journals.lww.com/ipcr/fulltext/2023/03040/partial_androgen_insensitivity_syndrome_.11.aspx

  Diagnosis of AIS is usually made in three kinds of scenarios: in fetal life if karyotyping of 46, XY does not match with prenatal female sex ultrasonological features or in a girl in early childhood with inguinal hernia or in adolescents in puberty presenting with primary amenorrhea. […] The comprehensive management of AIS includes discussing sex assignment, genitoplasty, psychological and genetic counseling, and prophylactic gonadectomy to prevent malignant transformation. […] Androgen insensitivity syndrome, though rare, is one of the most common types of XY DSD, with a wide spectrum of undervirilization. While CAIS may have a complete feminine external phenotype, the PAIS form may have minor virilizing features.

• #68 Living with androgen insensitivity syndrome – Multidisciplinary care team and research | ECE2021 | European Congress of Endocrinology 2021 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0073/ea0073js6.3

  Men and women who have AIS face a number of challenges. […] In this presentation, we will update endocrinologists who provide care for adults living with AIS about these changes, as they will, after transition, need to further counsel their patients and coordinate multidisciplinary care and surveillance of retained gonads in adulthood. […] Research has demonstrated that their testes can be safely retained at least until the end of puberty, and possibly beyond, provided that optimal surveillance of tumour risk can be offered. […] As for other DSD conditions, full transparency, adequate psychosocial support and peer contacts have been associated with positive outcomes and will in this presentation be placed at the heart of multidisciplinary care.

• #69 Living with androgen insensitivity syndrome – Multidisciplinary care team and research | ECE2021 | European Congress of Endocrinology 2021 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0073/ea0073js6.3

  Men and women who have AIS face a number of challenges. […] In this presentation, we will update endocrinologists who provide care for adults living with AIS about these changes, as they will, after transition, need to further counsel their patients and coordinate multidisciplinary care and surveillance of retained gonads in adulthood. […] Research has demonstrated that their testes can be safely retained at least until the end of puberty, and possibly beyond, provided that optimal surveillance of tumour risk can be offered. […] As for other DSD conditions, full transparency, adequate psychosocial support and peer contacts have been associated with positive outcomes and will in this presentation be placed at the heart of multidisciplinary care.

• #70 Androgen Insensitivity Syndrome: Complete & Partial

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

  Androgen insensitivity syndrome is rare. About 1 in 99,000 male infants are born with partial androgen insensitivity syndrome and 2 to 5 per 100,000 are born with complete androgen insensitivity syndrome. […] Males who inherit an abnormal gene, called the androgen receptor (AR) gene, from their mothers have a 1 in 4 chance of developing AIS. […] If you have a family history of AIS, you may choose to have genetic testing if you’re considering having children. These tests can tell you if you’re a carrier of the abnormal gene. […] 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).

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