17 beta-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17 beta HSD3 gene


ALİKAŞİFOĞLU A. , Hiort O., Gonc N., DEMİRBİLEK H. , Isik E., KANDEMİR N.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.25, pp.561-563, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25
  • Publication Date: 2012
  • Doi Number: 10.1515/jpem-2012-0009
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.561-563

Abstract

17-beta-Hydroxysteroid dehydrogenase type 3 (17 beta HSD-3) converts. 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. 17 beta HSD-3 deficiency is a rare cause of 46,XY disorders of sexual development. Here, we report a 16-year-old 46, XY patient with 17 beta HSD-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 very rare mutations, which was previously unencountered in Turkish patients with 17 beta HSD type 3, and she is the second reported case with this deletion.