Endocrine Abstracts

Primary ovarian insufficiency is a disorder resulting in the loss of ovarian function. It is a multifactorial condition characterized by amenorrhea, estradiol deficiency and high FSH levels before the age of 40 years. Most POI cases are idiopathic. Although genes encoding factors involved in meiosis and DNA repair have been considered as obvious candidates to explain POI cases, it is only recently that whole-exome sequencing explorations have incriminated causal mutations in g...

The gene FOXL2 encodes a forkhead transcription factor whose mutations or misregulation are responsible for the blepharophimosis-ptosis-epicanthus inversus (BPES) syndrome and more recently have been associated with ovarian granulosa cell tumors (OGCT). BPES is a genetic disorder involving craniofacial abnormalities associated with premature ovarian failure. OGCTs are endocrine malignancies, accounting for up to 5% of ovarian cancers, the treatment of which is challenging. I w...