Endocrine Abstracts

The pathogenesis of premature ovarian failure (POF) is largely unknown. However, the evidence of a frequent familiarity for the anticipation of menopause among POF women supports the concept of a strong genetic component at the origin of POF. This is further supported by the findings of several candidate genes and by data coming from natural and experimental animal models. On these bases, several groups are involved in the search for markers able to predict the risk of POF. Th...

The X-linked genes accounting for the determination of the ovarian function are still undefined. In the last few years, a large interest has been dedicated to the BMP15 gene. BMP15 gene encodes for a TGFβ-like growth factor of oocyte origin with a critical role in female fertility in mammals and several other species. This gene maps to a locus on the short arm of X chromosome were locates several traits of TS, including ovarian failure. Several missense variations have be...

The oocyte-derived growth and differentiation paracrine factor BMP15 has emerged as an essential regulator of the ovarian folliculogenesis, from evidences in animal models (knockout mice and sheeps with naturally occurring mutations) and humans. Indeed, several BMP15 mutations have been identified in association with primary ovarian insufficiency (POI), a heterogeneous and frequent fertility disorder characterized by the premature depletion of ovarian follicles in women <4...

The ovarian reserve naturally declines with age, however, 1–2% of women before 40 years experiences a premature exhaustion of the ovarian function and suffers from a fertility defect named Primary Ovarian Insufficiency (POI). The genetic origin of POI is well established and strongly supported by multiple reports of familial cases. To date, thanks to the candidate gene-discovery approach, few X-linked and autosomal genes have been associated to POI onset, but most of 46,X...

Primary ovarian insufficiency (POI) is a highly heterogeneous condition defined by the occurrence of amenorrhoea, hypoestrogenism and hypergonadotropinism in women under 40. POI onset can be triggered by multiple factors, such as iatrogenic events, environmental conditions, autoimmunity or genetic alterations. When the ovarian insufficiency occurs as a consequence of either chromosomal or genetic alterations, it can be associated with other congenital abnormalities and classif...

Primary ovarian insufficiency (POI) is one of the major causes of female infertility, affecting about 3.7% of women before the age of 40. POI is associated with the premature loss of ovarian function and can manifest with primary amenorrhea (PA) or post-pubertal secondary amenorrhea (SA), with elevated gonadotropins and hypoestrogenism. Several evidence established a clear genetic component to POI, albeit heterogeneous. In search of novel causative genes, we screened 64 POI pa...

BMP15 is an oocyte-derived growth factor belonging to TGF-β superfamily involved in follicular development as a critical regulator of granulosa cell processes. BMP15 gene maps at Xp11.2 and is expressed throughout folliculogenesis. BMP15 is translated as a pre-proprotein consisting of signal peptide, pro-region and mature peptide. The pro-region has an important role in the processing driving the pro-protein dimerization and secretion of active mature dimers. We report th...

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...