Diagnosis of 5α-reductase deficiency in a teenage Turkish girl

U. Walden; R. Rauch; O. Hiort; G. H.G. Sinnecker; H. G. Dorr

doi:10.1016/S1083-3188(98)70106-8

Diagnosis of 5α-reductase deficiency in a teenage Turkish girl

U. Walden, R. Rauch, O. Hiort, G. H.G. Sinnecker, H. G. Dorr^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Klinik für Kinder- und Jugendmedizin

Friedrich-Alexander-Universität Erlangen-Nürnberg

5 Zitate (Scopus)

Abstract

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.

Originalsprache	Englisch
Zeitschrift	Journal of Pediatric and Adolescent Gynecology
Jahrgang	11
Ausgabenummer	1
Seiten (von - bis)	39-42
Seitenumfang	4
ISSN	1083-3188
DOIs	https://doi.org/10.1016/S1083-3188(98)70106-8
Publikationsstatus	Veröffentlicht - 1998

Fördermittel

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.

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen
SDG 5 – Gender Equality
SDG 10 – Weniger Ungleichheiten

Strategische Forschungsbereiche und Zentren

Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

Dokumente

10.1016/S1083-3188(98)70106-8

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title = "Diagnosis of 5α-reductase deficiency in a teenage Turkish girl",

abstract = "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.",

author = "U. Walden and R. Rauch and O. Hiort and Sinnecker, \{G. H.G.\} and Dorr, \{H. G.\}",

note = "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.",

year = "1998",

doi = "10.1016/S1083-3188(98)70106-8",

language = "English",

volume = "11",

pages = "39--42",

journal = "Journal of Pediatric and Adolescent Gynecology",

issn = "1083-3188",

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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.

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JO - Journal of Pediatric and Adolescent Gynecology

JF - Journal of Pediatric and Adolescent Gynecology

IS - 1

ER -

Diagnosis of 5α-reductase deficiency in a teenage Turkish girl

Abstract

Fördermittel

UN SDGs

Strategische Forschungsbereiche und Zentren

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