Endocrine Abstracts

Primary Ovarian Insufficiency (POI) is an ovarian defect characterized by the premature depletion of ovarian follicles before 40 years and represents one major cause of female infertility. POI is a heterogeneous disease but, despite its idiopathic origin in most of patients, there is a strong genetic evidence, in particular for X chromosome-linked defects. BMP15 gene maps to Xp11.2 within a Turner locus critical for ovarian function and mutations in this gene have been found i...

BMP15 is a TGFβ-like oocyte-derived growth factor involved in ovarian folliculogenesis as a critical regulator of many granulosa cell processes. BMP15 is synthesized as a pro-protein which dimerizes and then is processed in the bioactive mature domain and a large prodomain. The proregion has an important role in the BMP15 processing by driving the dimerization and secretion of the active mature dimers. Since several mutations in the BMP15 gene have been found with differe...

Primary ovarian insufficiency (POI) is a critical fertility defect characterized by a progressive and silent impairment of the follicular reserve. POI aetiology is heterogeneous and largely unknown, but a maternal inheritance often characterizes idiopathic forms. Therefore, we hypothesized a possible involvement of a mitochondrial defect in the pathogenesis of this disease since mitochondrial biogenesis and bioenergetics play an essential role in ovarian folliculogenesis. Our ...

Spontaneous puberty occurs in a subset of Turner syndrome (TS) patients with significant 45,X/46,XX mosaicism. This observation leads to the belief that haploinsufficiency of still unidentified genes on the X chromosome is the cause of the accelerated follicle atresia in TS. Examination of particular X chromosome rearrangements/deletions led to the identification of 2 Xq and 1 Xp loci associated to the ovarian defect in TS. The availability of new generation genetic and cytoge...

Premature ovarian failure (POF) is a common cause of female infertility affecting about 1–2% 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...