Sex chromosome characteristics and recurrent miscarriage

Y chromosome microdeletions in Mexican males of couples with idiopathic recurrent pregnancy loss

“…In relation to Y chromosome microdeletions and RPL, only one study 27 and the present study have found an absence of microdeletions analyzing the same STSs that were reported previously as deleted.…”

“…These results are different from those reported for Turkish males, 11 American males 9 and Spanish males, 29 in which all have a normal spermiogram. The semen data of the Finnish study 27 is not available and data from the Sri Lankan study has only been reported for 50 males, of which 82% were normozoospermic, 10% were oligozoospermic, 4% were asthenozoospermic and 4% were asthenozoospermic/ oligozoospermic. 30 Even with a relative lower semen quality in relation to other studies, in the present study we do not find any microdeletions.…”

“…9 They only analyzed four sequence tagged sites (STSs) and important methodological mistakes were argued against this article 26 based on the current classification of the Y chromosome and known patterns of microdeletions. The second study 27 did not find any deletions in 40 males from Finnish couples, analyzing 33 STSs, including those recommended by the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN), as well as the same STSs used by Dewan et al 9 The third paper found Y chromosome microdeletions in 16% of 43 Turkish males, but they only screened four STSs and did not follow the EAA/EMQN recommendations. 11 We stated our concerns on the methodology used and the interpretations of this last article.…”

Association of sex hormone receptor gene polymorphisms with recurrent pregnancy loss: a systematic review and meta-analysis

“…The percentages of skewed XCI (>90%) were higher in RPL patients (2.2%-18.4%), with a 1.7 to 14.3 times greater prevalence, compared with the controls (1%-9.3%) among most studies (29, 41-44, 46, 47, 50, 51). Only three of the included studies reported a higher distribution of skewed XCI in the control groups (45,48,49). The integrated data showed that women with skewed XCI (>90%) had a higher risk for RPL, and the summary OR was 2.43 (1.34-4.43) (Fig.…”

“…Twelve studies with a total of 1,346 RPL women and 1,624 normal controls investigated the AR by using an XCI assay (29,(41)(42)(43)(44)(45)(46)(47)(48)(49)(50)(51).…”