ea0011oc47 | Endocrine genetics | ECE2006
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 12% 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...