Congenital Adrenal Hyperplasia

Also known as: CAH

What is congenital adrenal hyperplasia?

The adrenal glands are located above the kidneys and help with a number of essential bodily functions. When the adrenal glands do not produce cortisol, which is the stress hormone, the glands become enlarged and produce more testosterone, the male hormone.

What causes congenital adrenal hyperplasia?

Congenital adrenal hyperplasia is a genetic disorder that is inherited in a recessive fashion. Therefore, both parents need to have an affected gene to pass the condition on to their children.

What are the symptoms of congenital adrenal hyperplasia?

Symptoms of congenital adrenal hyperplasia vary widely depending on the affected gene and the severity of the condition. Affected females may have ambiguous genitalia. In severe cases, both males and females may experience sodium loss, which can be life threatening. In mild instances, females may have early development of pubic hair, body odor and/or acne, and later in life, excessive body hair, acne, and/or fertility challenges.

What are congenital adrenal hyperplasia care options?

Congenital adrenal hyperplasia can often be managed with medications such as corticosteroids and/or mineralocorticoids. Reconstructive surgery may be a possibility for females with issues related to their genitalia.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: October 18, 2021 01:57 PM

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