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Fertil Steril. 2013 Feb;99(2):484-9. doi: 10.1016/j.fertnstert.2012.10.026. Epub 2012 Nov 13.

NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.

Author information

1
Département d'Hormonologie, Hôpital Lapeyronie, CHU de Montpellier and Université Montpellier 1, Montpellier, France.

Abstract

OBJECTIVE:

To determine whether NR5A1 (SF-1) variants are a cause of primary ovarian insufficiency (POI) in 26 young women with similar genetic background.

DESIGN:

Genetic and functional mutation study.

SETTING:

University hospitals.

PATIENT(S):

Genetic analysis of the NR5A1 gene in 26 XX girls with POI.

INTERVENTION(S):

None.

MAIN OUTCOME MEASURE(S):

NR5A1 molecular and functional analysis.

RESULT(S):

Genetic analysis revealed a new c.763C>T (p.Arg255Cys) mutation and a recurrent c.437G>C (p.Gly146Ala) variant. Functional analysis of the p.Arg255Cys mutant showed a marked decrease in transactivation on the Cyp11a1 and Amh promoters. The p.Gly146Ala variant was identified significantly more often in the patients (46.1%) than in ancestry-matched control subjects (10%).

CONCLUSION(S):

We identified one new NR5A1 mutation in a patient of our POI cohort (prevalence 3.8%). Moreover, although our study is limited in the number of cases, we report the high frequency of the p.Gly146Ala variant in this cohort compared with the ancestry-matched control subjects. This work highlights the important role of SF-1 in ovarian function.

[Indexed for MEDLINE]

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