Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands, which are two glands located just on top of our kidneys. The adrenal glands are endocrine organs responsible for producing and releasing three types of hormones:

1. Cortisol, which regulates energy, blood pressure, blood sugar, and helps us recover from illnesses
2. Aldosterone, which regulates the amount of sodium and potassium in our bloodstream
3. Androgens, which are responsible for the development of secondary sexual characteristics (adrenarche) in both males and females.

All three of these adrenal hormones are necessary for normal body functioning in both males and females. In patients with Congenital Adrenal Hyperplasia, the adrenal glands typically produce too little cortisol and aldosterone, while producing too much of the androgen hormones. Excess levels of androgens can cause atypical genitalia, growth abnormalities, early puberty, and problems with fertility. All infants born in the United States are screened for Congenital Adrenal Hyperplasia shortly after birth. If your child is diagnosed with Congenital Adrenal Hyperplasia, additional tests including blood tests and imaging tests, such as X-rays or ultrasounds, are often done. Ultimately, genetic testing is used to confirm the diagnosis.

CAH is a condition that requires long-term follow-up and monitoring. The treatment involves life-long cortisol with or without aldosterone replacement therapy, in order to make up for what the adrenal glands are unable to produce themselves. In some cases, surgery is required.

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