Congenital Adrenal Hyperplasia (CAH)

CAH is a genetic condition of women, characterized by irregular periods, excess body hair, excess facial hair, acne, and obesity.  It can be inherited from either mother or father, and is more common among those with Mediterranean, Slavic, Hispanic, and Ashkenazi Jewish descent.  CAH involves a deficiency of one hormone, preventing another (17-hydroxyprogesterone) from converting to Cortisol, leading the brain to pressuring the adrenal glands, which then wind up making more of the male hormone testosterone than women should have.

CAH is only dangerous in its most severe form, which is quite rare, and discovered in early infancy by routine tests.  The main consequence of the less-severe form seen in adult women is infertility, or simply more difficulty in conceiving.  Miscarriages are more common among women who do conceive.  There is also a risk of conceiving a child with severe disease if the babyโ€™s father happens to be a genetic carrier (with no symptoms).

Girls with the less-severe form may have excess body hair, early-onset menstrual periods, severe acne, and tall height in childhood but short in adolescence because growth ceases early. ย Women with CAH have the same physical characteristics as women with PCOS.ย  Only blood tests for CAH can tell the difference, mainly finding a high early morning level of 17-hydroxyprogesterone. Treatment is usually with certain birth control pills.ย  Women who want to conceive can be given low-dose steroid hormones instead.

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