A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure.

Abstract:

:Steroidogenic factor-1 [(SF-1/Ad4BP) (MIM184757)] is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, reproduction, and other metabolic functions. Initially, mutations of SF-1/Ad4BP gene (NR5A1) in humans were identified in two 46, XY female patients with adrenal insufficiency and gonadal dysgenesis. However, recent studies have revealed that heterozygous mutations are more frequently found in 46, XY disorders of sex development (DSD) patients without adrenal failure than in 46, XY DSD patients with adrenal failure. We encountered a Japanese female patient of 46, XY DSD without adrenal failure and identified a novel mutation (V41G) of NR5A1. Functional analysis revealed that this mutant protein could not activate CYP19 promoter, indicating loss of function. In conclusion, we add a novel mutation of NR5A1 in 46, XY DSD patient without adrenal failure.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Tajima T,Fujiwara F,Fujieda K

doi

10.1507/endocrj.k08e-380

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

619-24

issue

4

eissn

0918-8959

issn

1348-4540

pii

JST.JSTAGE/endocrj/K08E-380

journal_volume

56

pub_type

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