Searchable abstracts of presentations at key conferences in endocrinology

ea0099rc1.3 | Rapid Communications 1: Reproductive and Developmental Endocrinology | ECE2024

Clinical and genetic characterization of a large cohort of patients with premature ovarian failure

Federici Silvia , Messetti Dario , Rossetti Raffaella , Moleri Silvia , Persani Luca , Bonomi Marco

Primary ovarian insufficiency (POI) affects 1% of women before age 40 years, and in 70-90% of cases is defined as idiopathic. Although numerous POI-associated genes have been identified in recent years, the prevalence and pathogenicity of individual rare gene variants is still difficult to establish. The aim of our study was to retrospectively analyze the correlation between genotype and phenotype in patients with idiopathic POI, providing a more detailed characterization of P...