Perched on top of each kidney is a triangle-shaped adrenal gland. In spite of its small, inch-long size, it plays a big role in the body, releasing male sex and steroid hormones, such as cortisol. But, for about 1 in 10,000 people, a recessive genetic disorder causes these glands to go out of whack. They slow their production of corticosteroids such as cortisol and pump an excess of androgen hormones, particularly androstenedione and other 17-ketosteroids, into the bloodstream. For men, this condition, called adrenogenital syndrome, isn’t life altering; symptoms include an enlarged penis, small testes, acne, and short stature. But, for women, it can create an entire gender shift during the first decade of their lives or can lead to menstrual disorders and infertility when it appears after puberty in some women.

Because of the excess androgens, girls take on a male appearance at birth—even though they have the female chromosomes and a female reproductive system. Physically, the clitoris enlarges—in some cases, to the size of a penis—and the vaginal lips fuse to become an empty scrotum. In other words, these girls look like boys on the outside and are sometimes raised as male if the diagnosis is missed. Most parents are unaware of their child’s condition until around puberty, when the testes don’t descend. Some may choose to opt for cosmetic surgery altering the genitalia, and a physician typically prescribes hormones to correct the imbalance. Gender identity problems may require psychiatric treatment in such patients.

In adult women, adrenogenital syndrome can lead to other masculine attributes, such as a failure to menstruate and a deep voice. It can also trigger excessive hair growth: If you’ve ever seen a sideshow act with a bearded lady, chances are that you’ve just witnessed someone with adrenogenital syndrome.

ADDITIONAL FACTS

  1. Adrenogenital syndrome is most often caused by a genetic defect that lowers the levels of the enzyme 21-hydroxylase, which in turn slows corticosteroid production in the adrenal glands.
  2. This condition is more common in Ashkenazi Jews, Italians, Latinos, and certain Eastern Europeans.
  3. Amniocentesis, a procedure in which a sample of fetal cells is drawn from the fluid in the womb, can test whether a fetus has this syndrome.