Two Types of Male Pseudohermaphroditism due to 17,20-Desmolase Deficiency*

Abstract

Three patients with male pseudohermaphroditism due to 17,20-desmolase deficiency were studied at a pubertal age. Patients 1 and 2 (first cousins, raised as males) had intersexual external genitalia, some spontaneous male pubertal development, some response of plasma testosterone to hCG, low plasma dehydroepiandrosterone, and pregnanetriolone (3α,17α,20α-trihydroxypregnan-ll-one) in urine. Patient 3 (unrelated, raised as a female) had female external genitalia, no spontaneous pubertal development, no response of plasma testosterone to hCG, normal plasma dehydroepiandrosterone, and no pregnanetriolone in urine. It is concluded that two types of 17,20-desmolase deficiency exist: one with an incomplete defect in both, the Δ⁴- and the Δ⁵-pathway (patients 1 and 2), and one with a complete defect in the Δ⁴-pathway only (patient 3).