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A Case of Male Pseudohermaphroditism due to 17-Hydroxylase Deficiency and Hormonal Profiles in the Nuclear Family^*

Service de Médecine Interne-Endocrinologie, Centre Hospitaller Régional et Universitaire (V.R., N.B., P.B., J.-C.B.) 49033 Angers Cedex
Fondation de Recherches en Hormonologie (K.N.) 94260 Fresnes
INSERM, U.329, Hôpital Debrousse (M.G.F.) 69322 Lyon Cedex 05, France

Address requests for reprints to: Dr. Jean-Claude Bigorgne, Service de Medecine Interne-Endocrinologie, Centre Hospitalier Regional et Universitaire, 49033 Angers Cedex, France.

A genetic male with 17-hydroxylase deficiency is described. The patient, raised as a female, was seen at 17 yr of age for impuberism. She presented all the features of the classical severe form of the disease: complete female phenotype; hypertension; hypokaliemia; elevated levels of plasma progesterone, 11-deoxycorticosterone, corticosterone (B), and ACTH; and suppression of renin and aldosterone production. Levels of 17-hydroxprogesterone, 17-hydroxypregnenolone, and all androgens were barely detectable. Hormone steroid patterns were determined in basal conditions and after acute ACTH stimulation in the parents and the two unaffected brothers in order to identify the heterozygotes. Subtle abnormalities in B and aldosterone secretion were observed in the male members of the family. On the basis of an increased ratio of B to aldosterone the two brothers were assumed to be heterozygotes. The mother had normal basal and stimulated levels of B, deoxycorticosterone, and aldosterone. In the parents and two brothers the progesterone responses to ACTH were exaggerated. The most striking finding in the father and both brothers was the observation of increased basal plasma 17-hydroxyprogesterone, unresponsive to ACTH stimulation, suggesting a partial Leydig cell 17,20-lyase deficiency in the male heterozygotes of this family. This study shows that a short ACTH test can help to identify the heterozygotes in affected families, but the abnormalities found are more heterogeneous than previously suggested.

^* This work was supported in part by INSERM.

Received October 27, 1989.