Male Pseudohermaphroditism due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency: Diagnosis, Psychological Evaluation, and Management
- 1 September 2000
- journal article
- case report
- Published by Wolters Kluwer Health in Medicine
- Vol. 79 (5) , 299-309
- https://doi.org/10.1097/00005792-200009000-00003
Abstract
Ten male pseudohermaphrodites with 17 beta-hydroxysteroid dehydrogenase 3 (17 beta-HSD3) deficiency were evaluated in 1 clinic with an average follow-up of 10.1 years. The diagnoses were made by demonstrating low to normal serum testosterone levels, high androstenedione levels, and high ratios of serum androstenedione to testosterone in the basal state or after treatment with human chorionic gonadotropin. The molecular features of the underlying mutations were identified in all 7 families. Two additional males in the same families are believed to be affected on the basis of history obtained from family members. All of the 46,XY individuals in these families were registered at birth and raised as females (despite the presence of ambiguous genitalia in all or most), and all virilized after the time of expected puberty due to a rise in serum testosterone to or toward the normal male range. The age at diagnosis varied from 4 to 37 years. Ten individuals were studied by the same psychologist, and change of gender role (social sex) from female to male occurred in 3 subjects and in the 2 presumed affected subjects not studied. The individual with the highest serum testosterone level maintained female sexual identity, and in 2 families some of the affected males changed gender role and others did not. Thus, while androgen action plays a role in the process, additional undefined psychological, social, and/or biologic factors must be determinants of gender identity/role behavior. Management of the 7 individuals who chose to maintain female sex roles included castration, clitoroplasty, vaginal enlargement procedures when appropriate, treatment of hirsutism, cricoid cartilage reduction, and estrogen replacement. Three of the 7 are married (2 twice), 1 is involved in a long-term heterosexual relationship, 1 is engaged to be married, and the other 2 are not married and not believed to be sexually active. The 3 subjects who changed gender role behavior to male underwent hypospadias repair, and 1 was given supplemental testosterone therapy. One of these men is divorced, and the other 2 (aged 29 and 35 years) are unmarried. The diagnosis in 8 of these subjects was made after the time of expected puberty; it is unclear whether the functional and social outcomes would have been different if the diagnosis had been made and therapy begun earlier in life.Keywords
This publication has 36 references indexed in Scilit:
- 17β-Hydroxysteroid dehydrogenase 3 deficiencyTrends in Endocrinology & Metabolism, 1996
- The Nature of the Defect in Familial Male Pseudohermaphroditism in Arabs of Gaza*Journal of Clinical Endocrinology & Metabolism, 1989
- Normal Expression of the Serologically Defined H-Y Antigen in Leydig Cell HypoplasiaJournal of Urology, 1988
- Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA associationJournal of Endocrinological Investigation, 1988
- Male pseudohermaphroditism due to 17-ketoreductase deficiency: Report of a case without gynecomastia and without vaginal pouchAmerican Journal of Obstetrics and Gynecology, 1986
- FAMILIAL MALE PSEUDOHERMAPHRODITISM WITH GYNAECOMASTIA DUE TO 17β‐HYDROXYSTEROID DEHYDROGENASE DEFICIENCY. A REPORT OF 3 CASESClinical Endocrinology, 1985
- Absent Spermatogenesis despite Early Bilateral Orchidopexy in 17-Ketoreductase DeficiencyHormone Research, 1985
- MALE PSEUDOHERMAPHRODITISM WITH GYNAECOMASTIA DUE TO TESTICULAR 17-KETOSTEROID REDUCTASE DEFICIENCYClinical Endocrinology, 1977
- CHRISTIAN HAMBURGERActa Endocrinologica, 1974
- The formation of an artificial vagina without operationAmerican Journal of Obstetrics and Gynecology, 1938