Fertility preservation in a family with a novel NR5A1 mutation.

Abstract:

:The common phenotype of nuclear receptor superfamily 5, group A, member 1 (NR5A1) gene mutations in 46,XY is gonadal dysgenesis without adrenal deficiency. Though the phenotype of gonadal dysgenesis is variable, ranging from complete female to normal male genitalia, an asymptomatic 46,XY male is rare. Preserved fertility has so far been described in only three affected 46,XY males with different mutations, but no functional analysis of these mutations has been performed. Here, we report on male siblings with hypospadias and their asymptomatic father in whom we identified a heterozygous NR5A1 mutation of c.910G>A, p.E304K. Western blotting and subcellular localization revealed no significant difference between the wild type (WT) and E304K. Electrophoretic mobility shift assay experiments showed that E304K abrogated DNA-binding ability. E304K reduced transactivation and had no dominant negative effect. In conclusion, we report on a novel hypomorphic NR5A1 mutation, which may be associated with the phenotype of the family.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Yagi H,Takagi M,Kon M,Igarashi M,Fukami M,Hasegawa Y

doi

10.1507/endocrj.EJ14-0340

subject

Has Abstract

pub_date

2015-01-01 00:00:00

pages

289-95

issue

3

eissn

0918-8959

issn

1348-4540

pii

DN/JST.JSTAGE/endocrj/EJ14-0340

journal_volume

62

pub_type

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