pediatrics
Congenital Adrenal Hyperplasia Caused by 11Beta Hydroxylase Deficiency
Key Points
Children with 11beta-hydroxylase deficiency have excess mineralocorticoid activity and increased adrenal androgens, which cause hypertension, hypokalemia, and virilization. In females, androgen excess usually manifests at birth with ambiguous external genitals (eg, clitoral enlargement, fusion of the labia majora, a urogenital sinus rather than distinct urethral and vaginal openings); later in life they may have hirsutism, oligomenorrhea, and acne. Male infants usually appear normal but may later have precocious puberty. Diagnose by steroid hormone levels and sometimes adrenocorticotropic hormone stimulation. Treat with corticosteroid replacement and sometimes antihypertensives; females may require reconstructive surgery. 