Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, presenting in classic (severe) and nonclassic (mild) forms. Classic CAH is a leading cause of atypical genitalia in 46,XX newborns and primary adrenal insufficiency in childhood, while nonclassic CAH may be asymptomatic or cause female infertility. The disorder results from mutations in the CYP21A2 gene, leading to deficient cortisol and aldosterone production and excess adrenal androgen synthesis. Newborn screening has significantly reduced morbidity and mortality, but challenges remain in managing hormonal imbalances, adrenal crises, and long-term metabolic and psychological outcomes. This review summarizes the genetic, pathophysiological, and clinical aspects of CAH, along with current diagnostic and therapeutic strategies.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, presenting in classic (severe) and nonclassic (mild) forms. Classic CAH is a leading cause of atypical genitalia in 46,XX newborns and primary adrenal insufficiency in childhood, while nonclassic CAH may be asymptomatic or cause female infertility. The disorder results from mutations in the CYP21A2 gene, leading to deficient cortisol and aldosterone production and excess adrenal androgen synthesis. Newborn screening has significantly reduced morbidity and mortality, but challenges remain in managing hormonal imbalances, adrenal crises, and long-term metabolic and psychological outcomes. This review summarizes the genetic, pathophysiological, and clinical aspects of CAH, along with current diagnostic and therapeutic strategies.