Endocrine Abstracts

Introduction: We recently reported cases of segmental overgrowth due to mosaic heterozygous activating mutations in the p110α catalytic subunit of PI3K. The index case presented with life-long, massive overgrowth of both legs with a lean upper body. Mobility was threatened by continued growth. mTORC1 inhibition has been effective at slowing excess growth due to loss of PTEN function, a negative regulator of PI3K. We hypothesised that mTORC1 inhibition would also be effect...

The amelioration of type 2 diabetes and sustained weight loss after bariatric surgery are thought to be due to elevated circulating levels of the gut hormones peptide YY3–36 (PYY3–36) and glucagon-like peptide-1 (GLP-1). GLP-1 augments the insulin response to an oral glucose load. PYY3–36 has appetite-inhibitory effects and contributes to longer-term weight loss. Rodent studies provide conflicting data regarding the effects of PY...

Phaeochromocytomas (PHAEO)/paragangliomas (PGL) are neuro-endocrine tumours. They may present sporadically or as the primary abnormality in a number of familial syndromes. Advances in molecular genetics have led to the identification of several PHAEO/PGL predisposing genes including VHL, NF1 and RET. Mutations in the genes encoding the subunits of Succinate Dehydrogenase (SDH) have also been reported. We describe the phenotype of a cohort of patients with a Succinate Dehydroge...

Kisspeptin, the endogenous ligand of the GPR54 receptor, is a key regulator of the hypothalamo-pituitary-gonadal (HPG) axis. GPR54-null mice exhibit reproductive dysfunction and exogenous kisspeptin potently stimulates the HPG axis in rodents, primates and human males. The effects of kisspeptin administration to human females are not known.Aim: To investigate the effects of kisspeptin on luteinising hormone (LH) release during the menstrual cycle in fema...

The rise in the prevalence of obesity has imparted urgency to the study of the mechanisms of appetite regulation. Oxyntomodulin (OXM) and glucagon-like peptide-1 (GLP-1) are anorexigenic gut hormones thought to act via the same receptor. There is an increasing body of evidence, however, that they may act via distinct pathways. Magnetic resonance imaging (MRI) is increasingly being used as a tool for tracking changes in neuronal activity in vivo through time. Manganese-e...

(This poster is based on OC17)...

Introduction: Control of hypertension (HT) is essential to reduce cardiovascular events in diabetic patients (DPts). However, studies indicate that only 50% of DPts with treated hypertension present adequate blood pressure (BP) control. Yet Endocrine-Society-Guideline (ESG) screening for primary hyperaldosteronism (PHA) is rarely applied. Furthermore, in patients with essential hypertension (EH), longer-acting hypertension medication (HM) improves 24-hour BP when compared to r...

Introduction: Hypophosphatemic rickets comprehends a group of hereditary diseases characterized by hypophosphatemia and defective bone mineralization. The most common form is X-linked, with a prevalence of 1:20.000.Objectives: Describe the follow up of patients with hypophosphatemic rickets in a public center in Brazil.Methods: Patients with hypophosphatemic rickets were selected from a database of Endocrinology and Metabolism Serv...

Objectives: Neurofibromatosis type 1 (NF1) is an autosomal, dominant, genetic disorder. The genetic lesion in neurofibromatosis type 1 is located at locus 17q11.2 that harbors the neurofibromin gene. Patients have 3-4 times higher possibility to develop malignancies relative to the general population. The endocrine manifestations of neurofibromatosis include precocious puberty, short stature, osteoporosis and pheochromocytoma. We present a patient with neurofibromatosis type 1...

Introduction: Tolvaptan is the only V2-receptor antagonist authorized for use in Europe in patients with SIADH. Its initiation requires hospitalization. Our goal was to analyze the safety and efficacy of tolvaptan started in a Hospital Day-Ward.Material and methods: Retrospective descriptive study of 33 ambulatory patients with mild/moderate SIADH-induced chronic sustained hyponatremia initiating tolvaptan therapy in the Day-Ward of a tertiary center ove...