TY - JOUR
T1 - Diagnosis of 5α-reductase deficiency in a teenage Turkish girl
AU - Walden, U.
AU - Rauch, R.
AU - Hiort, O.
AU - Sinnecker, G. H.G.
AU - Dorr, H. G.
N1 - Funding Information:
5α-Reductase deficiency is a rare autosomal recessive inherited cause of male pseudohermaphroditism.1 Genotypic male individuals are characterized by female or ambiguous external genitalia with microphallus, normally differentiated testes, and male internal ducts.2 Perineoscrotal hypospadias, a blind-ending vaginal pouch, urogenital sinus, and a small prostate are common findings. At puberty, the individuals undergo partial viriliza- Dedicated to Dr. H.U. Tietze on the occasion of his 60th birthday. Supported by Deutsche Forschungsgemeinschaft (Hi497/4-1) to a.H. for moleculeargenetic studies. Presented in partat the 10th International Congress of Endocrinology, SanFrancisco, California, 1996. Address reprint requests to: Helmuth G. DOff, MD, Division of Pediatric Endocrinology, University Hospital forChildren andAdolescents, Loschgestr. 15, D-91054 Erlangen, Germany.
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 1998
Y1 - 1998
N2 - Deficiency of 5α-reductase type 2 activity causes deficient masculinization of 46,XY individuals caused by a lack of dihydrotestosterone. At puberty, virilization is often observed. A precise diagnosis with correct gender assignment at an early age is very important. Recently, the molecular basis of the enzyme defect was discovered; however, only a few cases of 5α-reductase deficiency with a complete molecular genetic analysis have been published. We report on a Turkish patient clinically classified with steroid 5α-reductase deficiency (SRD) type 3b (karyotype 46,XY) who was raised as a girl and presented to us at the age of 14 years because the male phenotype had become predominant at puberty. Endocrinological investigations revealed an elevated serum testosterone/dihydrotestosterone ratio (17.3, normal: < 16). PCR-SSCP analyses detected a deletion of methionine on exon 3 of the 5α-reductase type 2 gene.
AB - Deficiency of 5α-reductase type 2 activity causes deficient masculinization of 46,XY individuals caused by a lack of dihydrotestosterone. At puberty, virilization is often observed. A precise diagnosis with correct gender assignment at an early age is very important. Recently, the molecular basis of the enzyme defect was discovered; however, only a few cases of 5α-reductase deficiency with a complete molecular genetic analysis have been published. We report on a Turkish patient clinically classified with steroid 5α-reductase deficiency (SRD) type 3b (karyotype 46,XY) who was raised as a girl and presented to us at the age of 14 years because the male phenotype had become predominant at puberty. Endocrinological investigations revealed an elevated serum testosterone/dihydrotestosterone ratio (17.3, normal: < 16). PCR-SSCP analyses detected a deletion of methionine on exon 3 of the 5α-reductase type 2 gene.
UR - http://www.scopus.com/inward/record.url?scp=0031594553&partnerID=8YFLogxK
U2 - 10.1016/S1083-3188(98)70106-8
DO - 10.1016/S1083-3188(98)70106-8
M3 - Journal articles
C2 - 9526825
AN - SCOPUS:0031594553
SN - 1083-3188
VL - 11
SP - 39
EP - 42
JO - Journal of Pediatric and Adolescent Gynecology
JF - Journal of Pediatric and Adolescent Gynecology
IS - 1
ER -
