Congenital adrenal hyperplasia is an inherited birth defect caused by a genetic error. It is a health condition involving hormones produced by your adrenal gland. And it affects both males and females.
Normally, adrenal glands secrete the right balance of its steroid hormones; cortisol, aldosterone and androgens. With congenital adrenal hyperplasia, you lack the enzyme necessary to make cortisol, and potentially aldosterone. As a result, your adrenal glands make up for the low cortisol and aldosterone levels by secreting an abundance of androgen instead.
Androgens are a group of male sex hormones, testosterone being the predominant one. Too much androgen can interfere with normal growth and development, including your genitals. As such, a girl born with congenital adrenal hyperplasia may have male characteristics and genitals that appear more male than female.
The severity of your congenital adrenal hyperplasia is caused by the extent of your enzyme deficiency. With mild congenital adrenal hyperplasia, you might not realize you have it because your symptoms don’t cause any health problems.
When symptoms do cause health issues, they’re frequently associated with low cortisol levels. Cortisol is involved in the stress response, regulating blood pressure, controlling blood sugar and maintaining energy levels.
Adrenal hyperplasia causes a broad range of symptoms, many of which are the result of too low cortisol levels or too high androgen levels, like:
- deep voice
- weight loss
- severe acne
- irregular periods
- low bone density
- nausea, vomiting
- very early puberty
- high blood cholesterol
- benign testicular tumors
- enlarged penis, small testes
- slow infection recovery ~ colds, flu
- trouble conceiving (getting pregnant)
- childhood rapid growth, final height short
- altered development of external female genitalia
- early development of male characteristics ~ muscles
Also, you may experience “adrenal crisis” caused by your low level of cortisol. This is a potentially fatal health condition so you’ll need emergency treatment should this occur.
Adrenal hyperplasia isn’t curable, but many of its symptoms are treatable. The primary form of treatment is to raise up your low levels of cortisol and aldosterone hormone to normal. This is accomplished by taking hormone replacement drugs daily or as needed for milder cases.
For infant girls who have ambiguous external genitalia, reconstructive surgery is available to correct its appearance and function. This surgery is typically performed before 6 months of age.
In the event adrenal hyperplasia is identified while a baby is still in the womb, one treatment option is for the pregnant mother to take potent corticosteroid drugs prior to the birth of their child. These drugs can cross the placenta into the womb and suppress their fetus’s adrenal glands in an effort to lower the level of androgen secretions. This in turn allows female genitals to develop normally and reduces masculine features. If your fetus is male, same treatment at lower levels is used to support normal adrenal gland function.
Many with congenital adrenal hyperplasia successfully treat their condition and lead healthy lives.