Male Pseudohermaphroditism Due to Testicular 17-Ketosteroid Reductase Deficiency

Abstract

A new case of testicular 17 ketosteroid reductase (17 KSR) deficiency without gynecomastia was investigated. Δ 4 androstenedione (15.6 ng/ml) was ten times the normal range, unchanged after dexamethasone administration. In contrast, plasma testosterone (4.1 ng/ml) was in the low normal male range and plasma dehydroepiandrosterone (4.2 ng/ml) was normal. Plasma luteinizing hormone and follicle-stimulating hormone were increased (162 and 470 ng/ml LER 907 respectively). After adrenal suppression and human chorionic gonadotropin stimulation, the increase of Δ 4 androstenedione was in contrast with the inertia of testosterone. In spermatic venous plasma Δ 4 androstenedione level (293.2 ng/ml) was very high and testosterone level (7.1 ng/ml) a hundred times below the normal mean. Plasma estrone (124 pg/ml) was increased and estradiol (22 pg/ml) was normal. In spermatic venous plasma estrone was elevated and estradiol very low (1380 and 32 pg/ml respectively). It is the third case of 17 KSR deficiency where the lack of E2 increase explains the absence of gynecomastia.

Key words

Testis - Male Pseudohermaphroditism - 17 Ketosteroid Reductase