The Incidence of Associated Anomalies in 105 Patients with Congenital Adrenal Hyperplasia

Abstract

A survey of 105 patients with defective adrenal steroid 21-hydroxylation, the most common defect in congenital adrenal hyperplasia, has been carried out to determine the presence of additional congenital or developmental anomalies. The following is a report of this survey. The diagnosis of congenital adrenal hyperplasia was suspected in infants who presented with ambiguous genitalia or with defect in electrolyte metabolism manifested by failure to thrive, vomiting and dehydration with hyponatremia and hyperkalemia. Measurement of elevated levels of urinary 17-ketosteroids, 11-keto pregnantriol and pregnantriol confirmed the diagnosis. Seventy-two (68.6%) of the 105 patients surveyed demonstrated defects in electrolyte metabolism and 39 of these were males.