pediatrics
Congenital Adrenal Hyperplasia Caused by 21 Hydroxylase Deficiency
Key Points
Children with 21-hydroxylase deficiency have varying degrees of androgen excess and about 70% have a salt-wasting form caused by aldosterone deficiency. 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. In males, androgen excess may not be apparent or may manifest in childhood with increased growth velocity and early signs of puberty. In both sexes, salt wasting causes hyponatremia and hyperkalemia. Diagnose by steroid hormone levels and sometimes adrenocorticotropic hormone (ACTH) stimulation and/or genotyping. Treat with replacement of corticosteroids and sometimes mineralocorticoids; females may require reconstructive surgery. 