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Congenital Adrenal Hyperplasia

(also: C.A.H)

Table of Contents

General Information

A person with CAH can be born with XX or XY chromosomes. CAH refers to a group of difrferent but related genetic variations that affect the enzymes that allow the adrenal glands to make specific hormones that help regulate the body's functions. Somoene with CAH does not consistently produce the needed amounts of aldosterone (which regulars levels of potassium and sodium), cortisol (which regulates the response to stress or sickness), or both. This may result in naturally producing higher-than-typical levels of androgens, such as testosterone, to help the body compensate.

The body of someone with XY chromosomes and 17-ohp CAH is not usually considered to have a variation in sex characteristics, since an increased amount of androgens will not cause the development of any characteristics that are not considered typical for people assigned male at birth. That being said, there are some variants that can result in ambiguous traits in the genitalia. These are rarer variants of CAH.

The body of someone with CAH and XX chromosomes may have genital differences that may be noticed at birth caused by this increased androgen production. These differences may include clitoromegaly, urogenital sinus, and a fused labia. They may also develop certain characteristics during childhood or puberty such as body hair, increased muscle mass, and facial hair.

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Classic Congenital Adrenal Hyperplasia

Classic CAH is more likely to be noticed at or shortly after birth as the lower levels of cortisol and/or aldosterone production are more pronounced.

Salt-Wasting Congenital Adrenal Hyperplasia

This is a subtype of classic CAH that cuases "salt-wasting." "Salt-wasting" is a dangerous scenario in which the low levels of aldosterone cause a person's body to lose too much sodium. A person with the salt-wasting form of CAH can experience life-threatening adrenal crises, particularly when the body is under stress; such as when undergoing a surgical procedure or due to illness or infection.

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Non-Classic Congenital Adrenal Hyperplasia/Late-Onset CAH

This variation of Congenital Adrenal Hyperplasia does not become apparent in people until later in childhood, adolescence, or even young adulthood.

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Simple Virilizing Congenital Adrenal Hyperplasia

[section pending]

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