Materiały źródłowe

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

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

  Atypical genitalia, formerly called ambiguous genitalia, is a rare condition in which an infant’s genitals don’t appear to be clearly male or female on the outside. […] Atypical genitalia can vary in appearance. Differences may depend on when during genital development the hormone changes that affected development occurred and the cause. […] A change in the steps that influence fetal sex development can result in a mismatch between the appearance of a baby’s external genitals and the baby’s internal sex organs or genetic sex, typically XX or XY. […] If a genetic male fetus doesn’t make hormones called androgens or doesn’t have enough of these hormones, it can cause atypical genitalia. Exposure to androgens during development in a genetic female fetus results in atypical external genitalia. […] Sometimes it’s not possible to find the cause of atypical genitalia.

• #2 Ambiguous Genitalia: Definition & Causes

  https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia

  Atypical genitalia, formerly known as ambiguous genitalia, is a rare condition where your newborns external genitals dont look typically male or typically female. […] Infants with atypical (intersex) genitals may have external genitals that dont match their internal sex organs or genetic sex. Atypical genitalia is a difference of sexual development (DSD). […] Hormonal irregularities during pregnancy generally cause atypical genitalia. These irregularities interfere with your fetuss developing sex organs. […] The most obvious sign of atypical genitalia is the presence of sex organs that dont look like a typical penis or vagina. Other symptoms may include: Hormonal imbalances, Menstruation begins early, late or not at all, Hypospadias a condition that occurs when the urethral opening isnt at the tip of the penis.

• #3 Ambiguous genitalia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/symptoms/ambiguous-genitalia

  Ambiguous genitalia is a rare condition where a child is born with outer genitals that do not clearly look either male or female. They may have features of both sexes or not be fully developed. The characteristics of the child’s genitals may not match their internal sex organs or their genetic sex. […] Ambiguous genitalia is common in children with differences of sex development (DSD). […] The male and female reproductive organs and genitals both come from the same tissue in the fetus. Ambiguous genitalia can develop if the process that causes this fetal tissue to become „male” or „female” is disrupted. This means the external genitals do look clearly male or female or may have characteristics of both. The physical appearance of people with this condition can vary widely. Very rarely, the physical appearance may be fully developed as the opposite of the genetic sex. For example, a genetic male may have developed the appearance of a female.

• #4 Ambiguous Genitalia in the Newborn – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279168/

  It emphasizes the importance of a structured medical assessment of the external genitalia to diagnose and determine the underlying cause of genital ambiguity. […] The chapter recognizes that having a child with ambiguous genitalia can be very stressful for parents. […] The reported incidence of ambiguous genitalia in newborns is approximately one in 4,500. […] It is essential that a newborn with ambiguous genitalia and their parents are promptly referred to a specialized center for evaluation. […] This evaluation should be carried out by a multi-disciplinary team specializing in DSD in accordance with international recommendations on diagnostic and therapeutic strategies. […] Key subspecialties involved in DSD teams typically include psychology, pediatric endocrinology, urology, neonatology, gynecology, andrology, nursing, social work, genetics, and medical ethics.

• #5 Ambiguous Genitalia and Disorders of Sexual Differentiation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557435/

  The male external genitalia requires the presence of dihydrotestosterone for normal phenotypic development. The deficiency of this hormone or resistance may lead to undervirilized genitalia. […] The incidence of a child with a disorder of sexual development (DSD) is approximately 1 in 1000 to 4500 live births. […] The most severe complication can arise due to neonatal salt wasting in congenital adrenal hyperplasia (CAH). Early diagnosis is crucial to prevent neonatal morbidity and mortality. Individuals with dysgenetic gonads are at risk of developing gonadal tumors, especially those with a Y chromosome in their karyotype.

• #6 Atypical genitalia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257

  Atypical genitalia can vary in appearance. Differences may depend on when during genital development the hormone changes that affected development occurred and the cause. […] A change in the steps that influence fetal sex development can result in a mismatch between the appearance of a baby’s external genitals and the baby’s internal sex organs or genetic sex, typically XX or XY. […] If a genetic male fetus doesn’t make hormones called androgens or doesn’t have enough of these hormones, it can cause atypical genitalia. Exposure to androgens during development in a genetic female fetus results in atypical external genitalia. […] Sometimes it’s not possible to find the cause of atypical genitalia. […] Atypical genitalia is usually diagnosed at birth or shortly after. Sometimes, healthcare professionals may suspect atypical genitalia during pregnancy when results of blood tests of the unborn baby’s sex differ from the ultrasound imaging of the baby’s genitalia. But generally, the diagnosis is not made until after birth. Healthcare professionals who help with delivery may notice the signs of atypical genitalia in your newborn.

• #7 Atypical genitalia | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20369257/

  Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn babys developing sex organs. […] A change in the steps that influence fetal sex development can result in a mismatch between the appearance of a babys external genitals and the babys internal sex organs or genetic sex, typically XX or XY. […] If a genetic male fetus doesnt make hormones called androgens or doesnt have enough of these hormones, it can cause atypical genitalia. Exposure to androgens during development in a genetic female fetus results in atypical external genitalia. […] Sometimes its not possible to find the cause of atypical genitalia. […] Complications of atypical genitalia may include: Infertility. Whether people with atypical genitalia can have children depends on the specific diagnosis. For example, genetic females with congenital adrenal hyperplasia usually can get pregnant if they so choose.

• #8 Atypical genitalia

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20369257

  A change in the steps that influence fetal sex development can result in a mismatch between the appearance of a baby’s external genitals and the baby’s internal sex organs or genetic sex, typically XX or XY. […] If a genetic male fetus doesn’t make hormones called androgens or doesn’t have enough of these hormones, it can cause atypical genitalia. Exposure to androgens during development in a genetic female fetus results in atypical external genitalia. […] Causes of atypical genitalia in genetic females may include: Congenital adrenal hyperplasia. Certain forms of this genetic condition cause the adrenal glands to make too much of hormones called androgens. […] Causes of atypical genitalia in genetic males may include: Problems with testicle development. This may be due to changes in genes or due to unknown causes.

• #9 Ambiguous Genitalia and Disorders of Sexual Differentiation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557435/

  The male external genitalia requires the presence of dihydrotestosterone for normal phenotypic development. The deficiency of this hormone or resistance may lead to undervirilized genitalia. […] The incidence of a child with a disorder of sexual development (DSD) is approximately 1 in 1000 to 4500 live births. […] The most severe complication can arise due to neonatal salt wasting in congenital adrenal hyperplasia (CAH). Early diagnosis is crucial to prevent neonatal morbidity and mortality. Individuals with dysgenetic gonads are at risk of developing gonadal tumors, especially those with a Y chromosome in their karyotype.

• #10 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868?locale=th

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain. […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. A very rare exception may occur when there is virilization of a 46,XX fetus by maternal virilizing tumors or maternal exposure to androgenic drugs.

• #11 Ambiguous genitalia| Dr Kavya Jonnalagadda | Best Endocrinologist in Tirupati

  https://sreecharithhospitals.com/ambiguous-genitalia.html

  Ambiguous genitalia also known as atypical genitalia is a rare medical condition where the newborn baby’s genitals are not clearly formed. They may either have underdeveloped organs or features of both genders. Causes in genetic females are Tumours, Prenatal exposure to male hormones and congenital adrenal hyperplasia […] Causes in genetic males are androgen insensitivity syndrome, impaired testicle development, abnormalities with testosterone and 5a reductase deficiency. Visible symptoms in genetically female newborns are: An enlarged clitoris, which may look like a penis, Closed labia, that resembles a scrotum, and lumps that feel like testes in the closed labia […] Visible symptoms in genetically male newborns are: A tube that carries urine and semen is not fully extended to the tip of the penis, a Small penis with the urethral opening closer to the scrotum, and the Absence of one or both testicles in the scrotum like a ball. Untreated Ambiguous genitalia leads to infertility and other types of cancer. Treatment of ambiguous genitalia starts with the determination of the sex of the little ones. The main goal of the treatment is to enable sexual function and fertility for the best possible outcomes. Medication is prescribed to balance the hormones in the body and surgery is made to preserve the sexual organs and create genitals.

• #12 Atypical genitalia

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20369257

  A change in the steps that influence fetal sex development can result in a mismatch between the appearance of a baby’s external genitals and the baby’s internal sex organs or genetic sex, typically XX or XY. […] If a genetic male fetus doesn’t make hormones called androgens or doesn’t have enough of these hormones, it can cause atypical genitalia. Exposure to androgens during development in a genetic female fetus results in atypical external genitalia. […] Causes of atypical genitalia in genetic females may include: Congenital adrenal hyperplasia. Certain forms of this genetic condition cause the adrenal glands to make too much of hormones called androgens. […] Causes of atypical genitalia in genetic males may include: Problems with testicle development. This may be due to changes in genes or due to unknown causes.

• #13 Atypical genitalia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257

  Atypical genitalia can vary in appearance. Differences may depend on when during genital development the hormone changes that affected development occurred and the cause. […] A change in the steps that influence fetal sex development can result in a mismatch between the appearance of a baby’s external genitals and the baby’s internal sex organs or genetic sex, typically XX or XY. […] If a genetic male fetus doesn’t make hormones called androgens or doesn’t have enough of these hormones, it can cause atypical genitalia. Exposure to androgens during development in a genetic female fetus results in atypical external genitalia. […] Sometimes it’s not possible to find the cause of atypical genitalia. […] Atypical genitalia is usually diagnosed at birth or shortly after. Sometimes, healthcare professionals may suspect atypical genitalia during pregnancy when results of blood tests of the unborn baby’s sex differ from the ultrasound imaging of the baby’s genitalia. But generally, the diagnosis is not made until after birth. Healthcare professionals who help with delivery may notice the signs of atypical genitalia in your newborn.

• #14 Ambiguous genitalia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/003269.htm

  With a few exceptions, ambiguous genitalia is most often not life-threatening. However, its treatment has short- and long-term consequences. For this reason, a team of health care professionals with expertise in DSD will work together to understand and treat the child and support the family. This team may include neonatologists, geneticists, endocrinologists, and psychiatrists or social workers. The specific treatment will depend on the specific cause of the ambiguous genitalia. […] Causes for ambiguous genitalia include: 46,XX disorder of sex development (DSD) and 46,XY DSD. The genitalia are of one sex, but some physical characteristics of the other sex are present. Ovotesticular DSD. This is a very rare condition, in which tissue from both the ovaries and testicles is present. The child may have parts of both male and female genitals. Congenital adrenal hyperplasia. This condition has several forms, but the most common form causes a genetic female to appear male. Infants are tested for this potentially life-threatening condition during newborn screening exams. Chromosomal abnormalities, including Klinefelter syndrome (47,XXY) and Turner syndrome (45,X). If the mother takes certain medicines (such as androgenic steroids), a genetic female may look more male. Lack of production of certain hormones can cause the embryo to develop with a female body type, regardless of genetic sex. Androgen insensitivity syndrome. Even if the body makes the hormones needed to develop into a physical male, the body does not respond normally to those hormones. This may produce female characteristics, even though the genetic sex is male.

• #15 Disorders of Sex Development | University Hospitals

  https://www.uhhospitals.org/health-information/health-and-wellness-library/article/pediatric-diseases-and-conditions-v0/disorders-of-sex-development

  Children with this condition lack an enzyme (5-alpha reductase). This enzyme is needed to help the male sex organs complete their development. […] Girl babies with this condition have male sex organs. The condition is caused by a lack of a certain enzyme in the adrenal gland. It’s the most common cause of atypical genitalia in newborns. […] When a child’s genitalia are ambiguous at birth, your child’s healthcare provider will ask about your health history. […] Sometimes a child with atypical genitalia is at higher risk for tumors in the sex organs. Treatment for atypical genitalia depends on the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. […] Making a correct determination of gender is important for treatment. But it’s also important for the child’s emotional well-being. Some children born with atypical genitalia may have normal internal sex organs that allow them to live normal, fertile lives. But others may have problems with fertility as adults.

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

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

  Atypical genitalia, formerly called ambiguous genitalia, is a rare condition in which an infant’s genitals don’t appear to be clearly male or female on the outside. […] Atypical genitalia can vary in appearance. Differences may depend on when during genital development the hormone changes that affected development occurred and the cause. […] A change in the steps that influence fetal sex development can result in a mismatch between the appearance of a baby’s external genitals and the baby’s internal sex organs or genetic sex, typically XX or XY. […] If a genetic male fetus doesn’t make hormones called androgens or doesn’t have enough of these hormones, it can cause atypical genitalia. Exposure to androgens during development in a genetic female fetus results in atypical external genitalia. […] Sometimes it’s not possible to find the cause of atypical genitalia.

• #17 What Is Ambiguous Genitalia? Symptoms, Side Effects, and More

  https://www.webmd.com/children/what-is-ambiguous-genitalia

  The biggest sign that a child has ambiguous genitalia is that their external sex organs dont look like a standard penis or vagina. […] Atypical genitalia could look different in every case, depending on which sex chromosomes have been affected. […] Depending on when genital development gets interrupted and what caused it, symptoms can be more or less severe. […] Someone with ambiguous genitalia might experience difficulty getting pregnant and an increased chance of getting certain kinds of cancer in addition to their primary condition. […] Those with atypical genitalia may still be able to have children depending on the cause of their condition. For example, females who have congenital adrenal hyperplasia could get pregnant even after hormonal treatment. […] Its hard to determine sexual expectations for children born with ambiguous genitalia. In addition to this condition, the brain also affects sexuality. This aspect of atypical genitalia is hard to predict.

• #18 Ambiguous genitalia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/symptoms/ambiguous-genitalia

  In most cases, ambiguous genitalia in genetic females (infants with 2 X chromosomes) has the following features: An enlarged clitoris that looks like a small penis. The urethral opening (where urine comes out) can be anywhere along, above, or below the surface of the clitoris. The labia may be fused and look like a scrotum. The infant may be thought to be a male with undescended testicles. Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles. […] In a genetic male (1 X and 1 Y chromosome), ambiguous genitalia most often include the following features: A small penis (less than 2 to 3 centimeters, or 3/4 to 1 1/4 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be anywhere along, above, or below the penis (hypospadias). It can be located as low as the perineum, further making the infant appear to be female. There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia.

• #19 Ambiguous genitalia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/003269.htm

  In most cases, ambiguous genitalia in genetic females (infants with 2 X chromosomes) has the following features: An enlarged clitoris that looks like a small penis. The urethral opening (where urine comes out) can be anywhere along, above, or below the surface of the clitoris. The labia may be fused and look like a scrotum. The infant may be thought to be a male with undescended testicles. Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles. […] In a genetic male (1 X and 1 Y chromosome), ambiguous genitalia most often include the following features: A small penis (less than 2 to 3 centimeters, or 3/4 to 1 1/4 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be anywhere along, above, or below the penis (hypospadias). It can be located as low as the perineum, further making the infant appear to be female. There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia.

• #20 Atypical genitalia | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20369257/

  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, doesnt 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.

• #21 Ambiguous genitalia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/symptoms/ambiguous-genitalia

  In most cases, ambiguous genitalia in genetic females (infants with 2 X chromosomes) has the following features: An enlarged clitoris that looks like a small penis. The urethral opening (where urine comes out) can be anywhere along, above, or below the surface of the clitoris. The labia may be fused and look like a scrotum. The infant may be thought to be a male with undescended testicles. Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles. […] In a genetic male (1 X and 1 Y chromosome), ambiguous genitalia most often include the following features: A small penis (less than 2 to 3 centimeters, or 3/4 to 1 1/4 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be anywhere along, above, or below the penis (hypospadias). It can be located as low as the perineum, further making the infant appear to be female. There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia.

• #22 Ambiguous genitalia | Lima Memorial Health System

  https://www.limamemorial.org/health-library/HIE%20Multimedia-TextOnly/1/003269

  In most cases, ambiguous genitalia in genetic females (infants with 2 X chromosomes) has the following features: An enlarged clitoris that looks like a small penis. The urethral opening (where urine comes out) can be anywhere along, above, or below the surface of the clitoris. The labia may be fused and look like a scrotum. The infant may be thought to be a male with undescended testicles. Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles. […] In a genetic male (1 X and 1 Y chromosome), ambiguous genitalia most often include the following features: A small penis (less than 2 to 3 centimeters, or 3/4 to 1 1/4 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be anywhere along, above, or below the penis (hypospadias). It can be located as low as the perineum, further making the infant appear to be female. There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia.

• #23 Ambiguous genitalia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/symptoms/ambiguous-genitalia

  In most cases, ambiguous genitalia in genetic females (infants with 2 X chromosomes) has the following features: An enlarged clitoris that looks like a small penis. The urethral opening (where urine comes out) can be anywhere along, above, or below the surface of the clitoris. The labia may be fused and look like a scrotum. The infant may be thought to be a male with undescended testicles. Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles. […] In a genetic male (1 X and 1 Y chromosome), ambiguous genitalia most often include the following features: A small penis (less than 2 to 3 centimeters, or 3/4 to 1 1/4 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be anywhere along, above, or below the penis (hypospadias). It can be located as low as the perineum, further making the infant appear to be female. There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia.

• #24 Ambiguous Genitalia – UF Health

  https://ufhealth.org/conditions-and-treatments/ambiguous-genitalia

  In most cases, ambiguous genitalia in genetic females (infants with 2 X chromosomes) has the following features: An enlarged clitoris that looks like a small penis. The urethral opening (where urine comes out) can be anywhere along, above, or below the surface of the clitoris. The labia may be fused and look like a scrotum. The infant may be thought to be a male with undescended testicles. Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles. […] In a genetic male (1 X and 1 Y chromosome), ambiguous genitalia most often include the following features: A small penis (less than 2 to 3 centimeters, or 3/4 to 1 1/4 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be anywhere along, above, or below the penis (hypospadias). It can be located as low as the perineum, further making the infant appear to be female. There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia.

• #25 Ambiguous genitalia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/003269.htm

  In most cases, ambiguous genitalia in genetic females (infants with 2 X chromosomes) has the following features: An enlarged clitoris that looks like a small penis. The urethral opening (where urine comes out) can be anywhere along, above, or below the surface of the clitoris. The labia may be fused and look like a scrotum. The infant may be thought to be a male with undescended testicles. Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles. […] In a genetic male (1 X and 1 Y chromosome), ambiguous genitalia most often include the following features: A small penis (less than 2 to 3 centimeters, or 3/4 to 1 1/4 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be anywhere along, above, or below the penis (hypospadias). It can be located as low as the perineum, further making the infant appear to be female. There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia.

• #26 Symptoms – Ambiguous genitalia

  https://ssl.adam.com/content.aspx?productid=117&pid=1&gid=003269&site=makatimed.adam.com&login=MAKA1603

  Undescended testicles commonly occur with ambiguous genitalia. […] With a few exceptions, ambiguous genitalia is most often not life-threatening. However, its treatment has short- and long-term consequences. […] Causes for ambiguous genitalia include: 46,XX disorder of sex development (DSD) and 46,XY DSD. The genitalia are of one sex, but some physical characteristics of the other sex are present. […] Congenital adrenal hyperplasia. This condition has several forms, but the most common form causes a genetic female to appear male. […] Ambiguous genitalia may be discovered during the first well-baby exam. […] Depending on the cause, surgery, hormone replacement, or other treatments are used to treat conditions that can cause ambiguous genitalia. […] There have been significant changes in treating ambiguous genitalia. In the past, the external genitals were prioritized over chromosomes. Expert opinion has shifted to understanding that chromosomal, neural, hormonal, psychological, and behavioral factors can all have an influence on an individual.

• #27 Ambiguous Genitalia: Definition & Causes

  https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia

  Atypical genitalia, formerly known as ambiguous genitalia, is a rare condition where your newborns external genitals dont look typically male or typically female. […] Infants with atypical (intersex) genitals may have external genitals that dont match their internal sex organs or genetic sex. Atypical genitalia is a difference of sexual development (DSD). […] Hormonal irregularities during pregnancy generally cause atypical genitalia. These irregularities interfere with your fetuss developing sex organs. […] The most obvious sign of atypical genitalia is the presence of sex organs that dont look like a typical penis or vagina. Other symptoms may include: Hormonal imbalances, Menstruation begins early, late or not at all, Hypospadias a condition that occurs when the urethral opening isnt at the tip of the penis.

• #28 Ambiguous Genitalia: Definition & Causes

  https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia

  Atypical genitalia, formerly known as ambiguous genitalia, is a rare condition where your newborns external genitals dont look typically male or typically female. […] Infants with atypical (intersex) genitals may have external genitals that dont match their internal sex organs or genetic sex. Atypical genitalia is a difference of sexual development (DSD). […] Hormonal irregularities during pregnancy generally cause atypical genitalia. These irregularities interfere with your fetuss developing sex organs. […] The most obvious sign of atypical genitalia is the presence of sex organs that dont look like a typical penis or vagina. Other symptoms may include: Hormonal imbalances, Menstruation begins early, late or not at all, Hypospadias a condition that occurs when the urethral opening isnt at the tip of the penis.

• #29 Atypical genitalia | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20369257/

  Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn babys developing sex organs. […] A change in the steps that influence fetal sex development can result in a mismatch between the appearance of a babys external genitals and the babys internal sex organs or genetic sex, typically XX or XY. […] If a genetic male fetus doesnt make hormones called androgens or doesnt have enough of these hormones, it can cause atypical genitalia. Exposure to androgens during development in a genetic female fetus results in atypical external genitalia. […] Sometimes its not possible to find the cause of atypical genitalia. […] Complications of atypical genitalia may include: Infertility. Whether people with atypical genitalia can have children depends on the specific diagnosis. For example, genetic females with congenital adrenal hyperplasia usually can get pregnant if they so choose.

• #30

  https://www.kuh.ku.edu.tr/mayo-clinic-care-network/mayo-clinic-health-information-library/diseases-conditions/ambiguous-genitalia

  Increased risk of certain cancers. Some disorders of sex development are associated with an increased risk of certain types of cancer. […] If your baby is born with ambiguous genitalia, the doctors will work to determine the underlying cause. The cause helps guide treatment and decisions about your baby’s gender. […] Once you and your doctor have chosen a gender for your baby, you may choose to begin treatment for ambiguous genitalia. The goal of treatment is long-term psychological and social well-being, as well as to enable sexual function and fertility to the greatest extent possible. […] In children with ambiguous genitalia, surgery may be used to: Preserve normal sexual function; Create genitals that appear more typical. […] Children with ambiguous genitalia require ongoing medical care and monitoring for complications, such as cancer screenings, into adulthood.

• #31 Ambiguous Genitalia in the Newborn – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279168/

  The process of masculinization of initially sex-neutral, undifferentiated external genitalia begins around 8-9 weeks of gestation when the potent androgen DHT (dihydrotestosterone) is produced by the testes. […] The development of external genitalia begins with a neutral anlage, including a genital tubercule, genital folds, and a urogenital sinus. […] These structures are subsequently differentiated into typical male external genitalia under the influence of androgens, particularly dihydrotestosterone (DHT). […] Conversely, for the development of typical female external genitalia, the absence of androgens is crucial to prevent virilization. […] Therefore, ambiguous genitalia at birth can arise from either an excessive or insufficient androgen effect on the neutral external genital anlage in males or females, respectively.

• #32 Ambiguous Genitalia in the Newborn – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279168/

  The process of masculinization of initially sex-neutral, undifferentiated external genitalia begins around 8-9 weeks of gestation when the potent androgen DHT (dihydrotestosterone) is produced by the testes. […] The development of external genitalia begins with a neutral anlage, including a genital tubercule, genital folds, and a urogenital sinus. […] These structures are subsequently differentiated into typical male external genitalia under the influence of androgens, particularly dihydrotestosterone (DHT). […] Conversely, for the development of typical female external genitalia, the absence of androgens is crucial to prevent virilization. […] Therefore, ambiguous genitalia at birth can arise from either an excessive or insufficient androgen effect on the neutral external genital anlage in males or females, respectively.

• #33 Ambiguous Genitalia in the Newborn – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279168/

  These abnormalities lead to increased ACTH secretion by the pituitary gland, which, in turn, results in the increased secretion of cortisol precursors, including adrenal androgens. […] The pathological mechanisms of 21-hydroxylase deficiency leading to 46,XX virilization in utero have been well described. […] It involves androgen excess due to lack of 21-hydroxylase activity during the critical time window around 6-12 weeks of gestation when the external genitalia are formed, and adrenal androgen production should be redirected to cortisol production to protect the female external genital anlage. […] Overall, a thorough examination and documentation of the external genitalia provide important clinical information that can guide the diagnosis and management of newborns with ambiguous genitalia.

• #34 Ambiguous Genitalia in the Newborn – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279168/

  These abnormalities lead to increased ACTH secretion by the pituitary gland, which, in turn, results in the increased secretion of cortisol precursors, including adrenal androgens. […] The pathological mechanisms of 21-hydroxylase deficiency leading to 46,XX virilization in utero have been well described. […] It involves androgen excess due to lack of 21-hydroxylase activity during the critical time window around 6-12 weeks of gestation when the external genitalia are formed, and adrenal androgen production should be redirected to cortisol production to protect the female external genital anlage. […] Overall, a thorough examination and documentation of the external genitalia provide important clinical information that can guide the diagnosis and management of newborns with ambiguous genitalia.

• #35 Differences of sex development: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001669.htm

  Differences of sex development (DSD) is a group of conditions in which there is a discrepancy between the external (outside) genitals (penis, scrotum, vulva, labia) and the internal (inside) genitals (testes, vagina, ovaries). Intersex is an older term for DSD. […] The symptoms associated with intersex will depend on the underlying cause. They may include: Ambiguous genitalia at birth, A very small penis (micropenis), Enlarged clitoris (clitoromegaly), Partly fused labia, Undescended testes (which may turn out to be ovaries) in boys, Labial or groin (inguinal) masses (which may turn out to be testes) in girls, The opening of the penis is somewhere other than at the tip (hypospadias); in females, the urethra (urine canal) opens into the vagina, Otherwise unusual-appearing genitalia at birth, Electrolyte abnormalities, Delayed or absent puberty, Unexpected changes at puberty. […] If you notice that your child has unusual genitalia or sexual development, discuss this with your health care provider.

• #36 Differences of sex development: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001669.htm

  Differences of sex development (DSD) is a group of conditions in which there is a discrepancy between the external (outside) genitals (penis, scrotum, vulva, labia) and the internal (inside) genitals (testes, vagina, ovaries). Intersex is an older term for DSD. […] The symptoms associated with intersex will depend on the underlying cause. They may include: Ambiguous genitalia at birth, A very small penis (micropenis), Enlarged clitoris (clitoromegaly), Partly fused labia, Undescended testes (which may turn out to be ovaries) in boys, Labial or groin (inguinal) masses (which may turn out to be testes) in girls, The opening of the penis is somewhere other than at the tip (hypospadias); in females, the urethra (urine canal) opens into the vagina, Otherwise unusual-appearing genitalia at birth, Electrolyte abnormalities, Delayed or absent puberty, Unexpected changes at puberty. […] If you notice that your child has unusual genitalia or sexual development, discuss this with your health care provider.

• #37 Ambiguous Genitalia (Atypical Genitalia) | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/ambiguous-genetalia/

  Ambiguous genitalia is a rare condition where a baby is born with external genitalia that aren’t clearly defined as male or female. This may include external genitalia that: […] Ambiguous genitalia is also called atypical genitalia. It’s considered a disorder or difference of sex development (DSD), a group of conditions (previously called intersex) that occur when biological sex and external genitalia don’t match. […] The most apparent sign of ambiguous genitalia is external genitals that don’t look as expected. In babies who are genetically female, meaning they have XX chromosomes, this may look like: […] As children with ambiguous genitalia get older, they may have hormonal imbalances. Genetically female adolescents may also have absent or late periods (amenorrhea). […] Babies with ambiguous genitalia usually get diagnosed at birth. Their doctor may initially diagnose them based on a physical exam.

• #38 Atypical genitalia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278

  Atypical genitalia is usually diagnosed at birth or shortly after. […] Sometimes, healthcare professionals may suspect atypical genitalia during pregnancy when results of blood tests of the unborn baby’s sex differ from the ultrasound imaging of the baby’s genitalia. […] The cause helps guide treatment and decisions about your baby’s sex. […] Your baby will likely have these tests: Blood tests to measure hormone levels. Blood tests to look at chromosomes. This can show the genetic sex: typically, XX or XY. These blood tests also can show conditions caused by a gene change that affects sex organ development. […] Sometimes minimally invasive surgery is needed to collect a tissue sample of your newborn’s reproductive organs. […] Using the information gathered from these tests, your healthcare professional may suggest a sex for your baby.

• #39 Atypical genitalia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257

  If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. The cause helps guide treatment and decisions about your baby’s sex. Your healthcare professional begins by asking questions about your family and medical history. Your baby has a physical exam to check for testicles and evaluate the genitalia. […] Hormone medicines may help correct or manage hormones that are out of balance. For example, in a genetic female with a slightly enlarged clitoris caused by mild congenital adrenal hyperplasia, hormone replacement maybe the only treatment needed. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. The timing of surgery depends on your child’s specific situation. Some healthcare professionals prefer to postpone surgery done only for appearance. They suggest waiting until the person with atypical genitalia is mature enough to be part of the decision about sex assignment. […] Children with atypical genitalia need ongoing medical care. This includes watching for complications, such as getting cancer screenings into adulthood.

• #40 Atypical genitalia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257

  If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. The cause helps guide treatment and decisions about your baby’s sex. Your healthcare professional begins by asking questions about your family and medical history. Your baby has a physical exam to check for testicles and evaluate the genitalia. […] Hormone medicines may help correct or manage hormones that are out of balance. For example, in a genetic female with a slightly enlarged clitoris caused by mild congenital adrenal hyperplasia, hormone replacement maybe the only treatment needed. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. The timing of surgery depends on your child’s specific situation. Some healthcare professionals prefer to postpone surgery done only for appearance. They suggest waiting until the person with atypical genitalia is mature enough to be part of the decision about sex assignment. […] Children with atypical genitalia need ongoing medical care. This includes watching for complications, such as getting cancer screenings into adulthood.

• #41 Atypical genitalia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278

  Atypical genitalia is usually diagnosed at birth or shortly after. […] Sometimes, healthcare professionals may suspect atypical genitalia during pregnancy when results of blood tests of the unborn baby’s sex differ from the ultrasound imaging of the baby’s genitalia. […] The cause helps guide treatment and decisions about your baby’s sex. […] Your baby will likely have these tests: Blood tests to measure hormone levels. Blood tests to look at chromosomes. This can show the genetic sex: typically, XX or XY. These blood tests also can show conditions caused by a gene change that affects sex organ development. […] Sometimes minimally invasive surgery is needed to collect a tissue sample of your newborn’s reproductive organs. […] Using the information gathered from these tests, your healthcare professional may suggest a sex for your baby.

• #42 Atypical genitalia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278

  Atypical genitalia is usually diagnosed at birth or shortly after. […] Sometimes, healthcare professionals may suspect atypical genitalia during pregnancy when results of blood tests of the unborn baby’s sex differ from the ultrasound imaging of the baby’s genitalia. […] The cause helps guide treatment and decisions about your baby’s sex. […] Your baby will likely have these tests: Blood tests to measure hormone levels. Blood tests to look at chromosomes. This can show the genetic sex: typically, XX or XY. These blood tests also can show conditions caused by a gene change that affects sex organ development. […] Sometimes minimally invasive surgery is needed to collect a tissue sample of your newborn’s reproductive organs. […] Using the information gathered from these tests, your healthcare professional may suggest a sex for your baby.

• #43 Atypical genitalia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278

  Atypical genitalia is usually diagnosed at birth or shortly after. […] Sometimes, healthcare professionals may suspect atypical genitalia during pregnancy when results of blood tests of the unborn baby’s sex differ from the ultrasound imaging of the baby’s genitalia. […] The cause helps guide treatment and decisions about your baby’s sex. […] Your baby will likely have these tests: Blood tests to measure hormone levels. Blood tests to look at chromosomes. This can show the genetic sex: typically, XX or XY. These blood tests also can show conditions caused by a gene change that affects sex organ development. […] Sometimes minimally invasive surgery is needed to collect a tissue sample of your newborn’s reproductive organs. […] Using the information gathered from these tests, your healthcare professional may suggest a sex for your baby.

• #44 Ambiguous genitalia – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/ambiguous-genitalia/

  Ambiguous genitalia is usually diagnosed at birth or shortly after. Doctors and nurses who help with delivery may notice the signs of ambiguous genitalia in your newborn. […] If your baby is born with ambiguous genitalia, the doctors will work to determine the underlying cause. The cause helps guide treatment and decisions about your baby’s gender. Your doctor will likely begin by asking questions about your family and medical history. He or she will do a physical exam to check for testes and evaluate your baby’s genitalia. […] Hormone medications may help correct or compensate for the hormonal imbalance. For example, in a genetic female with a slightly enlarged clitoris caused by a minor to moderate case of congenital adrenal hyperplasia, proper levels of hormones may reduce the size of the tissue. Other children may take hormones around the time they would normally experience puberty.

• #45 Differences (Disorders) of Sex Development (DSDs): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1015520-overview

  Infants born with ambiguous or abnormal genitalia may have indeterminate phenotypic sex. […] Congenital adrenal hyperplasia (CAH) is the most common cause of DSDs. […] The most common cause of CAH is 21-hydroxylase deficiency resulting in virilization of a child with 46,XX. […] Prompt diagnosis of the underlying cause of DSD is essential; 75% of those with 21-hydroxylase deficiency have salt-wasting nephropathy. […] Patients with CAH have variations in the degree of phallic enlargement, the extent of genital fold fusion, and the size and level of entry of the vagina into the urogenital sinus. […] The diagnosis is biochemically confirmed by an elevated serum level of 17-OHP. […] Among all causes of DSDs, only salt-wasting CAH is considered a true medical emergency. […] If unrecognized, the resulting hypotension can cause vascular collapse and death.

• #46 Ambiguous Genitalia in the Newborn – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279168/

  A comprehensive evaluation of ambiguous genitalia in a newborn is essential for understanding the underlying cause and potential consequences. […] On one hand, this evaluation can lead to the detection of concomitant, treatable disorders, such as adrenal insufficiency that requires cortisol replacement. […] Also, it is important to note that in up to 30% of children with a Difference/Disorder of Sex Development (DSD), other organ system disorders may be identified, necessitating medical care and qualifying as syndromic DSD. […] The inability to produce testosterone stems from defects in the activity of any of the enzymes required for testosterone biosynthesis from cholesterol. […] Identified defects encompass genetic variants in Steroidogenic Acute Regulatory Protein (StAR), P450 side-chain cleavage (CYP11A1), 3-hydroxy steroid dehydrogenase 2 (HSD3B2), 17-hydroxylase/17,20-lyase (CYP17A1), and P450 oxidoreductase (POR).

• #47 Ambiguous Genitalia in the Newborn – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279168/

  A comprehensive evaluation of ambiguous genitalia in a newborn is essential for understanding the underlying cause and potential consequences. […] On one hand, this evaluation can lead to the detection of concomitant, treatable disorders, such as adrenal insufficiency that requires cortisol replacement. […] Also, it is important to note that in up to 30% of children with a Difference/Disorder of Sex Development (DSD), other organ system disorders may be identified, necessitating medical care and qualifying as syndromic DSD. […] The inability to produce testosterone stems from defects in the activity of any of the enzymes required for testosterone biosynthesis from cholesterol. […] Identified defects encompass genetic variants in Steroidogenic Acute Regulatory Protein (StAR), P450 side-chain cleavage (CYP11A1), 3-hydroxy steroid dehydrogenase 2 (HSD3B2), 17-hydroxylase/17,20-lyase (CYP17A1), and P450 oxidoreductase (POR).

• #48 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868?locale=th

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain. […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. A very rare exception may occur when there is virilization of a 46,XX fetus by maternal virilizing tumors or maternal exposure to androgenic drugs.

• #49 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868?locale=th

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain. […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. A very rare exception may occur when there is virilization of a 46,XX fetus by maternal virilizing tumors or maternal exposure to androgenic drugs.

• #50 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868?locale=th

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain. […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. A very rare exception may occur when there is virilization of a 46,XX fetus by maternal virilizing tumors or maternal exposure to androgenic drugs.

• #51 Ambiguous Genitalia | Doctor

  https://patient.info/doctor/ambiguous-genitalia

  Ambiguous genitalia is a birth defect in which the outer genitals do not have the typical appearance of either a boy or a girl. […] Ambiguous genitalia may be a result of a disorder of sexual development (DSD), previously called intersex conditions. The ability to diagnose these conditions has improved greatly in recent years, due to advances in molecular genetics. […] Evidence about long-term outcomes for people with DSD who undergo gender assignment and reconstructive surgery is still lacking. […] Infants who are born with ambiguous genitalia represent a neonatal medical emergency for physical, social and psychological reasons. Immediate referral to an experienced multidisciplinary team (MDT) is essential. Urgent medical assessment is needed; for example, 75% of infants with CAH have associated salt-wasting nephropathy which can cause hypotension, collapse and death.

• #52 Atypical genitalia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278

  For children with atypical genitalia, the sex organs may work properly in spite of how the genitals look on the outside. […] Results of surgery are often satisfying. But repeat surgeries may be needed. […] Children with atypical genitalia need ongoing medical care. […] If your baby has atypical genitalia, you may worry about the baby’s future. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood. […] Not knowing the sex of your newborn right away might turn a hoped-for celebration into a stressful time. […] Consider waiting to make a formal announcement of the birth until testing is done and you’ve created a plan with advice from your medical team.

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