5 alpha-reductase deficiency: an infrequent cause of male pseudohermaphroditism
Deslypere, J.P.; Coucke, W.; Robbe, N.; Vermeulen, A.
Acta Clinica Belgica 40(4): 240-246
1985
ISSN/ISBN: 1784-3286 PMID: 4082862 Document Number: 250815
Male pseudohermaphroditism may be caused by a deficiency of the 5.alpha.-reductase enzyme, which converts testosterone (T) into the biologically more potent androgen dihydrotestosterone (DHT). The first case-report of this enzyme abnormality in Belgium is presented here. Affected males have ambiguous external genitalia at birth and are usually raised as girls. At puberty masculinisation develops which is associated with a change in gender identity. The biochemical diagnosis is based on a high T over DHT ratio in blood, on a high etiocholanolone over androsterone ratio in urine and confirmed by a low 5.alpha.-reductase activity in genital skin.