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, 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).

Next Steps...

ThinkGenetic is a cutting edge tool empowering patients who want to know about possible genetic causes for their medical issues or obtain real-life answers to their questions about the impact of living with a genetic disease. ThinkGenetic will help you understand what questions to ask doctors in order to improve your medical care. Our goal is to help speed time to diagnosis and reduce chances of diagnostic error - two things that can make a significant difference to millions around the world.

Ask a Question About Genetic Diseases

Have general questions about Genetic Diseases and Disorders? Email our Genetic Experts for answers for free!

Start SymptomMatcher

Our free Symptom Matcher Tool can help determine if a Genetic Disease is a possible explanation for your symptoms and provides a Tear Sheet for your clinician!

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me