Searchable abstracts of presentations at key conferences in endocrinology

ea0020p636 | Reproduction | ECE2009

Candidate gene analyses in Caucasian patients with primary ovarian insufficiency

Rossetti Raffaella , Cacciatori Chiara , Marozzi Anna , Cordella Daniela , Bione Silvia , Cannavo Salvatore , Bernard Dan , Cole Trevor , Clayton-Smith Jill , Beck-Peccoz Paolo , Persani Luca

Primary ovarian insufficiency (POI) is a heterogeneous disorder characterized by primary (PA) or secondary (SA) amenorrhea associated with increased levels of gonadotropins. POI affects about 1% of women before the age of 40 years. A major genetic component has been suggested for idiopathic POI due to the frequent familiarity for this defect. Indeed, FMR1 premutations can be found in 10–15% and BMP15 mutations in 2–5% of POI patients. Numerous other candidate genes h...