Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc47 | Endocrine genetics | ECE2006

Frequent involvement of BMP15 gene variants in women with premature ovarian failure

Di Pasquale E , Rossetti R , Marozzi A , Borgato S , Cavallo L , de Luca F , Einaudi S , Radetti G , Russo G , Sacco M , Beck-Peccoz P , Persani L

Premature ovarian failure (POF) is a common cause of female infertility affecting about 1–2% of women under the age of 40. This heterogeneous disorder is characterized by primary or secondary amenorrhea and elevated gonadotropin values. Several defects can cause POF, including autoimmunity, X chromosome abnormalities and gene mutations, but its pathogenesis is still unknown in the vast majority of women with normal karyotype. We recently described two sisters affected wit...