Searchable abstracts of presentations at key conferences in endocrinology

ea0081p713 | Reproductive and Developmental Endocrinology | ECE2022

Molecular and functional studies of novel genetic variants of TP63 an SAMD11 genes unravel their potential role in the pathogenesis of primary ovarian insufficiency

Rossetti Raffaella , Moleri Silvia , Guizzardi Fabiana , Bonomi Marco , Marozzi Anna , Brancati Francesco , Persani Luca

Primary ovarian insufficiency (POI) is one of the major causes of female infertility, affecting about 3.7% of women before the age of 40. POI is associated with the premature loss of ovarian function and can manifest with primary amenorrhea (PA) or post-pubertal secondary amenorrhea (SA), with elevated gonadotropins and hypoestrogenism. Several evidence established a clear genetic component to POI, albeit heterogeneous. In search of novel causative genes, we screened 64 POI pa...