Adrenogenital Syndrome in a Young Boy

After this 9-year-old boy complained of “growing too fast” during the past 1 to 2 years, his parents sought medical advice. He had no significant past medical history.

The boy was 160 cm (5 ft 4 in) tall and weighed 45 kg (100 lb)-both measurements were above the 95% percentile for his age. The penis was enlarged and pubic hair was present, but the testes were prepubertal in size. The skeletal maturity was that of a 15-year-old. Electrolyte levels were normal. Urinary hormone studies demonstrated elevated 17-ketosteroid values. Bilateral adrenal hyperplasia-without signs of tumor-was seen on CT. Elevated serum 17-hydroxyprogesterone levels confirmed a diagnosis of congenital adrenal hyperplasia, 21-hydroxylase deficiency (non–salt-wasting variety).

Dr William Wadlington of Nashville, Tenn, prescribed an initial 2-week course of hydrocortisone, 10 mg/d, to suppress adrenal hyperplasia. A maintenance dose of hydrocortisone was given to maintain a normal growth rate. Within a year of initiation of therapy, the boy underwent a spontaneous-but early-onset of puberty, with enlarging testes, rapid progression of secondary sexual characteristics, and a brief pubertal height acceleration.

His final height was significantly below that predicted by his parents' height.

Short stature is common in all patients with this disorder; it is thought to be caused by rapid skeletal maturation associated with incomplete suppression of adrenal androgen production. Children with late-diagnosed congenital adrenal hyperplasia often experience precocious puberty.

Lifelong glucocorticoid therapy is needed by persons with congenital adrenal hyperplasia. Those with salt-wasting variants also require mineralocorticoid supplementation with 9α-fluorocortisol. During periods of metabolic stress (eg, fever and intercurrent illness), the glucocorticoid dosage must be increased to prevent adrenal crises in these patients.