The role of genetic and autoimmune factors in premature ovarian failure.

Abstract:

PURPOSE:To identify the role of both genetic (number of CGG repeats in the FMR1 gene) and autoimmune factors (anti-ovarian antibodies) in premature ovarian failure (POF). METHODS:In cross-sectional study, 78 women with POF were divided into 3 groups by the number of CGG repeats (less than 28, 28-36, more than 36) in any of the FMR1 gene alleles. We performed the detection of skewed X-chromosome inactivation, CGG repeats in the FMR1 gene, anti-ovarian antibodies (AOA) and sex hormones tests. RESULTS:Compared to a higher or lower number of CGG repeats the 28-36 triple CGG counts are strongly associated with the AOA detection (RR = 19.23, 95% CI = 2.63-100.0). The women with autoimmune-driven POF have significantly higher anti-Mullerian hormone levels in comparison to women with non-autoimmune-driven POF. CONCLUSION:The presence of AOA above 10 IU/mL is associated with the normal number of CGG repeats in regard to ovarian reserve and a better preservation of follicular primordial pool in the women with POF.

journal_name

J Assist Reprod Genet

authors

Shamilova NN,Marchenko LA,Dolgushina NV,Zaletaev DV,Sukhikh GT

doi

10.1007/s10815-013-9974-4

subject

Has Abstract

pub_date

2013-06-01 00:00:00

pages

617-22

issue

5

eissn

1058-0468

issn

1573-7330

journal_volume

30

pub_type

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