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Primary ovarian insufficiency (POI) is diagnosed clinically by increased follicle-stimulating hormone (FSH) levels and estradiol (E2) deficiency. A previous report suggests a possible association matrix metalloproteinase (MMP) and estrogen signaling pathway; however, there are no reports of MMP genetic associations with POI.Blood samples were collected from 374 karyotypically normal study participants...
To investigate the association between potentially functional plasminogen activator inhibitor-1 (PAI-1) genetic polymorphisms and primary ovarian insufficiency (POI).Case–control study.Urban university-based hospital.A cohort of 137 POI patients and 227 controls.None.Genotyping of five PAI-1 polymorphisms (−844G>A [rs2227631], −675 4G/5G [rs1799889], 43G>A (Ala>Thr) [rs6092], 9785G>A [rs2227694],...
The etiology of premature ovarian failure (POF) still remains undefined. Although the majority of clinical cases are idiopathic, there are possibilities of the underestimation of the most common etiologies, probably genetic causes. By reporting a case of POF with a partial Xp duplication and Xq deletion in spite of a cytogenetically 46,XX normal karyotype, we look forward that the genetic cause of...
The aim of our study was to investigate whether the endothelial nitric oxide synthase (eNOS) gene polymorphisms −786T>C, 4a4b, and 894G>T that affect nitric oxide (NO) generation confer a risk for primary ovarian insufficiency (POI) in Korean women.We genotyped 136 POI patients and 236 controls among Korean women for the three single nucleotide polymorphism sites with PCR-RFLP analysis. Differences...
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