Furtherin VivoStudies in Male Pseudohermaphroditism with Gynecomastia Due to a Testicular 17-Ketosteroid Reductase Defect (Compared to a Case of Testicular Feminization)

Abstract

A patient with masculine pseudohermaphroditism was considered as a normal female until puberty. At puberty she had normal breast development, primary amenorrhea and marked signs of virilism. The peripheral and spermatic venous plasma concentration of dehydroepiandrosterone (DHA) and its sulfate, androstenedione (Δ), testosterone (T), estrone (E₁) and 17β-estradiol (E₂) were measured in this patient and in a case of testicular feminization syndrome. In the latter patient T was the principal androgen secreted by the testicle and E₂ the principal estrogen. In the first patient, the secretion of T was small, and that of Δ greatly increased; the secretion of E₁ was increased more than that of E₂. Following orchidectomy, in both patients, the concentration of plasma androgens was quivalent to that in a normal female, and the estrogens similar to a post-menopausal woman.