Congenital adrenal hyperplasia (CAH) in women is a group of inherited genetic disorders affecting the adrenal glands, which are responsible for producing important hormones such as cortisol, aldosterone, and androgens (male sex hormones)
. CAH results from a deficiency in enzymes needed for hormone production, most commonly 21-hydroxylase, leading to insufficient cortisol and aldosterone and an overproduction of androgens
Types and Symptoms in Women
- Classic CAH: Usually diagnosed at birth or early infancy, it can cause ambiguous genitalia in females, where the external genitalia may appear different from typical female anatomy (e.g., enlarged clitoris, fused labia)
. This form can be severe, sometimes leading to salt-wasting crises due to aldosterone deficiency, which is life-threatening if untreated
- Nonclassic CAH: A milder and more common form, often diagnosed later in childhood or adulthood. Women with nonclassic CAH may have symptoms related to excess androgens such as:
- Excessive facial or body hair (hirsutism)
- Irregular or absent menstrual periods
- Early puberty signs
- Acne
- Fertility problems in some cases
- Rapid growth in childhood but shorter adult height
Additional Effects
Women with CAH may experience hormonal imbalances that affect sexual development and reproductive health, including menstrual irregularities and potential fertility issues
. Classic CAH can also cause adrenal crises, a life-threatening condition with symptoms like vomiting, diarrhea, low blood pressure, and low blood sugar, requiring immediate treatment
Summary
CAH in women is primarily characterized by hormonal imbalances due to enzyme deficiencies in the adrenal glands, leading to excess androgen production. This can cause physical changes such as ambiguous genitalia in newborn girls (classic CAH) or symptoms like excess hair growth and menstrual irregularities later in life (nonclassic CAH). Treatment focuses on hormone replacement and managing symptoms
. This condition affects both infants and adults, with severity and symptoms varying widely depending on the type of CAH
