Endocrine Abstracts

Primary Ovarian Insufficiency (POI) affects ~1% of women under forty leading most often to definitive infertility. About 25% of cases seem to be of genetic origin. The recent leap due to whole exome sequencing has led to the identification of new genes involved. Up to now more than sixty genes have been implicated in POI. Diminished Ovarian Reserve (DOR) also leads to female infertility. DOR is defined by a decreased quantity or quality of follicles based on antral follicle co...

The identification of naturally occurring genetic mutations of the FSH receptor has led to a better understanding of the role of FSH in folliculogenesis and has allowed to identify the cause of several syndroms. Inactivating mutations of the follicle stimulating hormone (FSH) receptor have been described in rare cases of premature ovarian failure (POF). We have studied a new patient presenting a complete POF phenotype, with high plasma FSH levels, very low estrogen and inhibin...

BRCA2, is a gene with a critical role in DNA repair and homologous recombination in somatic cells. Patients with BRCA2 biallelic mutations develop Fanconi Anemia (FA), a severe life-threatening condition characterized by pancytopenia and multiple malformations and malignancies, while women with monoallelic alteration are at high risk to develop breast or ovarian cancer (up to 60%). Primary Ovarian insufficiency (POI) affects 1% of women under forty and is a publi...