Endocrine Abstracts

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare congenital disease caused by deficiency or action of gonadotropin-releasing hormone. While generally considered a long-life condition, IHH can be reversible in about 20-30% of cases, but mechanisms of reversibility are unknown. We report the case of a male with IHH who began treatment with low dose (20 mg/day) transdermal testosterone to induce pubertal development at age 18. Following the start of treatment, he experien...

Premature Ovarian Insufficiency (POI) is defined as impairement of ovarian function in women under 40 years, with a incidence between 1-4% in women of reproductive age. Among the major identified causes of Premature Ovarian Insufficiency, genetic factors related with X-chromosome are widely described. However, autosome defects are less common found and are related generally with genetic mutations instead of structural abnormalities of them. Thefor, we report a relevant case of...

Introduction: Most of pheochromocytomas (PCC) and paragangliomas (PGL) are sporadic. However, up to 40% of them have an inherited origin due to germline mutations in at least 15 known PCC/PGL genes, being the VHL and SDHx genes the ones most frequently affected. The fumarate hydratase (FH) is a Kreb’s cycle enzyme encoded by the FH gene.Its inactivating mutations increase intracellular levels of fumarate, leading to tissular pseudohypoxia and transcription of genes involv...