17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene

Ayfer Alikasifoglu; Olaf Hiort; Nazli Gonc; Huseyin Demirbilek; Emregul Isik; Nurgun Kandemir

doi:10.1515/jpem-2012-0009

17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene

Ayfer Alikasifoglu^*
, Olaf Hiort
, Nazli Gonc
, Huseyin Demirbilek
, Emregul Isik
, Nurgun Kandemir

^*Corresponding author for this work

Department of Pediatric and Adolescent Medicine

Hacettepe University

17 Citations (Scopus)

Abstract

17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) converts Δ 4 androstenedione (A) to testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is essential for normal fetal development of male genitalia. 17βHSD-3 deficiency is a rare cause of 46,XY disorders of sexual development. Here, we report a 16-year-old 46,XY patient with 17βHSD-3 deficiency raised as a female and significantly virilized in puberty. A homozygous 7 base pair deletion on exon 10 was determined in HSD17B3 gene (c.777-783del-GATAACC). Our patient had one of the veryrare mutations, which was previously unencountered in Turkish patients with 17βHSD type 3, and she is the second reported case with this deletion.

Original language	English
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	25
Issue number	5-6
Pages (from-to)	561-563
Number of pages	3
ISSN	0334-018X
DOIs	https://doi.org/10.1515/jpem-2012-0009
Publication status	Published - 01.06.2012

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 5 Gender Equality
SDG 10 Reduced Inequalities

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

Access to Document

10.1515/jpem-2012-0009

Cite this

@article{13c2b6e1a3e8402ea95082284354fb98,

title = "17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene",

abstract = "17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) converts Δ 4 androstenedione (A) to testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is essential for normal fetal development of male genitalia. 17βHSD-3 deficiency is a rare cause of 46,XY disorders of sexual development. Here, we report a 16-year-old 46,XY patient with 17βHSD-3 deficiency raised as a female and significantly virilized in puberty. A homozygous 7 base pair deletion on exon 10 was determined in HSD17B3 gene (c.777-783del-GATAACC). Our patient had one of the veryrare mutations, which was previously unencountered in Turkish patients with 17βHSD type 3, and she is the second reported case with this deletion.",

author = "Ayfer Alikasifoglu and Olaf Hiort and Nazli Gonc and Huseyin Demirbilek and Emregul Isik and Nurgun Kandemir",

year = "2012",

month = jun,

day = "1",

doi = "10.1515/jpem-2012-0009",

language = "English",

volume = "25",

pages = "561--563",

journal = "Journal of Pediatric Endocrinology and Metabolism",

issn = "0334-018X",

publisher = "Walter de Gruyter GmbH",

number = "5-6",

}

TY - JOUR

T1 - 17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene

AU - Alikasifoglu, Ayfer

AU - Hiort, Olaf

AU - Gonc, Nazli

AU - Demirbilek, Huseyin

AU - Isik, Emregul

AU - Kandemir, Nurgun

PY - 2012/6/1

Y1 - 2012/6/1

N2 - 17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) converts Δ 4 androstenedione (A) to testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is essential for normal fetal development of male genitalia. 17βHSD-3 deficiency is a rare cause of 46,XY disorders of sexual development. Here, we report a 16-year-old 46,XY patient with 17βHSD-3 deficiency raised as a female and significantly virilized in puberty. A homozygous 7 base pair deletion on exon 10 was determined in HSD17B3 gene (c.777-783del-GATAACC). Our patient had one of the veryrare mutations, which was previously unencountered in Turkish patients with 17βHSD type 3, and she is the second reported case with this deletion.

AB - 17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) converts Δ 4 androstenedione (A) to testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is essential for normal fetal development of male genitalia. 17βHSD-3 deficiency is a rare cause of 46,XY disorders of sexual development. Here, we report a 16-year-old 46,XY patient with 17βHSD-3 deficiency raised as a female and significantly virilized in puberty. A homozygous 7 base pair deletion on exon 10 was determined in HSD17B3 gene (c.777-783del-GATAACC). Our patient had one of the veryrare mutations, which was previously unencountered in Turkish patients with 17βHSD type 3, and she is the second reported case with this deletion.

UR - https://www.scopus.com/pages/publications/84865747015

U2 - 10.1515/jpem-2012-0009

DO - 10.1515/jpem-2012-0009

M3 - Journal articles

C2 - 22876557

AN - SCOPUS:84865747015

SN - 0334-018X

VL - 25

SP - 561

EP - 563

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

IS - 5-6

ER -

17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene

Abstract

UN SDGs

Research Areas and Centers

Access to Document

Other files and links

Fingerprint

Cite this