Endocrine Abstracts

Endometriosis is a common gynaecological disease associated with severe pelvic pain and sub-fertility. We conducted a genome-wide association (GWA) study in 3,194 surgically confirmed endometriosis cases and 7060 controls of European ancestry from Australia and the UK using 540,000 genetic markers (SNPs). Polygenic predictive modelling showed significantly increased genetic loading among the 1364 (43%) cases with moderate-severe (rAFS III/IV) endometriosis. The strongest assoc...

Premature ovarian failure (POF) is defined as cessation of menstruation before the expected age of menopause. The disorder is considerable heterogeneous with a wide spectrum of causes- genetic, autoimmune, metabolic, infectious, and iatrogenic. However, etiology remains to be elucidated in most cases.Chromosomal abnormalities have long been recognized as frequent causes of POF. However, few large cohorts have been studied. Ethnic background is usually no...

Since menarche is the landmark for the beginning of fertility and menopause marks the end of a women’s reproductive lifespan genetics of fertility as well as infertility will be discussed taking recent GWAS data on both menarche and menopause into account.Recently, 30 new loci for age at menarche were identified in a meta-analysis of 32 genome-wide association studies (GWAS) in women of European descent. In addition to two known loci the new loci in...