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...

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...