Endocrine Abstracts

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 ...

Introduction: Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. ICH could be associated or not with hypo-anosmia respectively identifying the Kallmann’s syndrome (KS) or the normosmic ICH (nICH). Even though 14 disease genes have been identified, in 70% of patients no genetic cause could be identified, suggesting additional regulatory genes and still unknown mechanisms. Thus, with the aim to identify new ...

Introduction: ICH is a rare and heterogeneous condition due to defects of GnRH secretion or action. Recent data indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic defects have been described as a possible pathogenic explanation for ICH.Subjects: We present two familial cases with particular clinical and genetic profiles, out of a cohort of 300 ICH patients.R...