Searchable abstracts of presentations at key conferences in endocrinology

ea0022s11.4 | Premature ovarian failure | ECE2010

Genetic defects in ovarian growth/differentiation factors

Persani Luca , Rossetti Raffaella , Cacciatore Chiara

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...

ea0035p646 | Female reproduction | ECE2014

BMP15 gene dosage as a relevant X-linked determinant of ovarian development and function

Rossetti Raffaella , Negri Irene , Castronovo Chiara , Finelli Palma , Persani Luca

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...

ea0032oc5.1 | Reproduction | ECE2013

BMP15-dependent gene-expression profiling in human granulosa cells

Rossetti Raffaella , Gentilini Davide , Beccaria Elena , Paffoni Alessio , Persani Luca

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...

ea0056gp136 | Female Reproduction | ECE2018

Novel mechanisms and genes involved in the pathogenesis of primary ovarian insufficiency (POI) by whole-exome sequencing approach

Rossetti Raffaella , Ferrari Ilaria , Gentilini Davide , Persani Luca

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...

ea0056gp219 | Reproduction | ECE2018

Mitochondrial phenotype of FOXL2 variants associated with Blepharophimosis, Ptosis and Epicantus Inversus Syndrome (BPES)

Ferrari Ilaria , Rossetti Raffaella , Bigoni Stefania , Petrone Lisa , Persani Luca

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...

ea0081p713 | Reproductive and Developmental Endocrinology | ECE2022

Molecular and functional studies of novel genetic variants of TP63 an SAMD11 genes unravel their potential role in the pathogenesis of primary ovarian insufficiency

Rossetti Raffaella , Moleri Silvia , Guizzardi Fabiana , Bonomi Marco , Marozzi Anna , Brancati Francesco , Persani Luca

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...

ea0016oc5.4 | Reproduction | ECE2008

Molecular and functional characterization of BMP15 variants associated with secondary amenorrhea and premature ovarian failure (POF)

Rossetti Raffaella , Di Pasquale Elisa , Marozzi Anna , Bione Silvia , Beck-Peccoz Paolo , Persani Luca

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...

ea0020p636 | Reproduction | ECE2009

Candidate gene analyses in Caucasian patients with primary ovarian insufficiency

Rossetti Raffaella , Cacciatori Chiara , Marozzi Anna , Cordella Daniela , Bione Silvia , Cannavo Salvatore , Bernard Dan , Cole Trevor , Clayton-Smith Jill , Beck-Peccoz Paolo , Persani Luca

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...