Congenital Adrenal Hyperplasia (CAH) is a genetic disorder affecting adrenal gland function, leading to a deficiency in cortisol and, often, aldosterone. The most common form is caused by a 21-hydroxylase enzyme deficiency, resulting in an accumulation of androgens. This hormonal imbalance can cause ambiguous genitalia in newborn females and early puberty or excessive hair growth in males. Symptoms may include dehydration, low blood pressure, and electrolyte imbalances. Early diagnosis through newborn screening is crucial for effective management, which typically involves hormone replacement therapy to normalize hormone levels, prevent complications, and support healthy growth and development. Regular monitoring is essential.
