Skewed X chromosome inactivation may be not associated with premature ovarian failure

Background.?In view of the controversies about the skewed X chromosome inactivation (XCI) and premature ovarian failure (POF) association, a meta-analysis of the published data was performed to evaluate the relationship between XCI skewing and POF.

Methods.?We searched for all published articles indexed in MEDLINE (1950～2009) and CNKI (1994～2009). Any case–control or cohort study that tested the association between skewed XCI and POF was included and data were extracted independently by two reviewers. We performed this meta-analysis involving 325 cases and 403 controls with Review Manager 4.2 software.

Results.?Four eligible studies were selected for meta-analysis. It suggested that there was no significant difference between the incidence of skewed XCI (XCI ≥70% skewing) in POF cases comparing to healthy controls, odds ratio (OR)?=?1.13 [95% confidence interval (CI): 0.84～1.53, P?=?0.42]. The link between extremely skewed XCI (XCI ≥90% skewing) and POF was also analysed, and no significant difference was found, either, OR?=?1.46 (95% CI: 0.79～2.69, P?=?0.22).

Conclusions.?Skewed XCI had no association with POF. However, more case–control and cohort studies are needed in the future.     

Primary ovarian insufficiency in woman with normal karyotype 46XX and double satellites on the short arm of chromosome 15 (15pss)

Abstract

A 31-year-old woman with oligomenorrhea and primary infertility consulted for evaluation. A clinical investigation, sonographic imaging of the reproductive organs, and an assessment of endogenous hormone production were performed. During the initial visit, the ultrasound identified a “pseudogestational sac” (i.e. fluid [blood or secretions] in the uterine cavity Pregnancy was excluded by serum beta-HCG assessment, and after 3 weeks, spontaneous menstruation occurred. Serum follicle-stimulating hormone, AMH, and inhibin B levels confirmed premature ovarian insufficiency (POI). High-resolution chromosomal evaluation identified normal 46XX karyotype with double satellites on chromosome 15 (46XX, 15 pss). Two months later, our patient presented with typical symptoms of hypoestrogenism: hot flushes, night sweats, and dyspareunia. Chromosome 15 with double satellites was not considered to be clinically significant. No cases of POI in women with karyotype 46XX 15pss have been reported. By reporting a case of POI in an infertile woman with double satellites on the short arm of chromosome 15 (15pss), we consider that autosomal chromosomes polymorphism may have clinical significance, and we recommend that the genetic cause of POI be investigated more seriously.     

Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter-->q22:)

The association of mullerien duct with gonadal dysgenesis is extremely rare. We report such a case in a 19 year-old white woman with a 46,X,del(X)(pter-->q22:) karyotype.