Searchable abstracts of presentations at key conferences in endocrinology

ea0063gp61 | Reproductive Axis | ECE2019

Novel phenotype of isolated diminished ovarian reserve and new CSB-PGBD3 (ERCC6) mutations revealed by targeted next generation sequencing in a cohort of caucasian infertile women

Heddar Abdelkader , Akloul Linda , Lurton Yann , Bernhard Mathilde Domin , Odent Sylvie , Misrahi Michleine

Primary Ovarian Insufficiency (POI) affects ~1% of women under forty leading most often to definitive infertility. About 25% of cases seem to be of genetic origin. The recent leap due to whole exome sequencing has led to the identification of new genes involved. Up to now more than sixty genes have been implicated in POI. Diminished Ovarian Reserve (DOR) also leads to female infertility. DOR is defined by a decreased quantity or quality of follicles based on antral follicle co...