Atypical Genitalia

The sex of the baby is normally determined at the moment of conception, but in the case of atypical genitalia, a problem occurs and leads to the inability of knowing or determining the baby’s sex.

Atypical genitalia

Atypical genitalia is a rare condition that causes the external genitals to not manifest clearly in newborns and that causes the inability to determine the newborn’s sex. Ambiguous genitalia occurs in several forms: the genitals don’t develop completely or clearly, the baby might have sex characteristics from both sexes, or the external genitals might not match with the internal ones or with the genetic sex that’s determined depending on the chromosomes X and Y.

Causes of atypical genitalia

• Normally, the baby’s sex is determined depending on the chromosomes that come from both of the parents (in the case of the chromosomes XX, the sex is female, and in the case of XY, the sex is male), and then the internal genitals develop depending on the sex, and after that the external genitals develop depending on the sex hormones. In case of ambiguous genitalia, a defect occurs during the process and causes the genitals to not develop correctly.
• In the case of a genetically male person, if male hormones weren’t produced or weren’t enough, then this causes atypical genitalia.
• Changes in the genetics could impact the sexual development of the fetus and cause ambiguous genitalia.
• Atypical genitalia might also occur due to other health conditions that affect the sexual chromosomes.
• Sometimes, the cause of atypical genitalia remains unknown.

Possible causes for genetically female

• Congenital adrenal hyperplasia, which leads to extreme production of androgens (male hormones).
• If the pregnant woman gets exposed to high amounts of male hormones during pregnancy.

Possible causes for genetically male

• Problems with testicle development or the testosterone hormone.
• Androgen insensitivity syndrome, which causes the genitals to not respond correctly to them.

Symptoms of atypical genitalia

Usually, the condition is observed shortly after birth, and in some cases, it might be observed before that.

Symptoms in genetically female

• An enlarged clitoris that looks like a penis.
• The labia might close or fuse in a way that resembles the male scrotum.
• Lumps that look like testicles in the fused labia.

Symptoms in genetically male

• The urethra isn’t fully extended.
• One or both of the testicles disappear.
• The penis is significantly small.
• Undescended testicles.

Diagnosis of atypical genitalia

• The diagnosis is usually made after birth, and then several tests are done to determine the cause and treat it, and they usually include blood tests, imaging tests, and a biopsy.

Treatment of atypical genitalia

• Hormonal therapy.
• Surgery.