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Classic congenital adrenal hyperplasia (CAH) is a genetic condition that affects the walnut-sized adrenal glands that sit atop your kidney. In classic CAH, 21-hydroxylase is a missing enzyme that affects the adrenal glands ability to make the stress hormone knowns as cortisol. 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, hirsutism, amenorrhea, infertility), but also due to the life-long therapy of supra-physiologic doses of glucocorticoids (e.g., weight gain, osteopenia, insulin resistance).
Will I or my daughter with congenital adrenal hyperplasia have fertility problems?
Will my child have normal development if they have congenital adrenal hyperplasia?
I have congenital adrenal hyperplasia, and I am pregnant. Do I need to have special treatment during pregnancy?
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ThinkGenetic works with Genetic Counselors around the world to provide trustworthy information on genetic diseases and disorders. Our mission is to help guide individuals to the answers for their genetic questions and decrease the time it takes to get a diagnosis.