Unusual Type of Congenital Adrenal Hyperplasia Probably Due to Deficiency of 3β-Hydroxysteroid Dehydrogenase. Case Report of a Surviving Girl and Steroid Studies1

Abstract

The case of a girl, aged 6 1/2 yr, with probable 3β-hydroxysteroid dehydrogenase deficiency is described. To our knowledge, this is the second surviving patient with this condition. After ACTH administration, the predominant urinary steroid was Δ⁵-pregnenetriol. Δ⁵-Pregnenediol was also identified. Testosterone and pregnanetriolone were not detectable. The patient shows some unusual features compared to the classic description of the syndrome: the external genitalia are normal, the predominant 17-ketosteroid was androsterone and not dehydroepiandrosterone, and pregnanetriol was present. Possible explanations of these findings are discussed.