Trusted Information on Congenital Adrenal Hyperplasia

Classic congenital adrenal hyperplasia (CAH) is a genetic condition that affects the walnut-sized adrenal glands that sit atop your kidney. In classic CAH, the enzyme 21-hydroxylase, which affects the adrenal glands ability to make the stress hormone known as cortisol, is missing. Without cortisol there is a significant rise in the production of androgens. Androgens are important for the physical development for both girls and boys, but too much isn't always a good thing.

There are an estimated 20,000-30,000 patients with classic CAH living in the US. Health-related issues seen in classic CAH can be caused by overproduction of androgens (e.g., short stature, early puberty, excess hair (hirsutism), loss of menstrual cycles/periods (amenorrhea), and infertility for both men and women), but also due to the life-long therapy of supra-physiologic doses of glucocorticoids (e.g., weight gain, bone disease (osteopenia), and insulin resistance).

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