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
N1 - Copyright:
Copyright 2012 Elsevier B.V., All rights reserved.
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 - http://www.scopus.com/inward/record.url?scp=84865747015&partnerID=8YFLogxK
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 -
