Endocrine Abstracts

Obesity and its consequent metabolic disorders are severe health problems. The mechanistic target of rapamycin complex 1 (mTORC1) pathway is an important hypothalamic integrator of the actions of nutrients and hormones on food intake (FI). Nutrient availability also affects the formation of reactive oxygen species (ROS) in the hypothalamus and regulates neuronal activity. In the present study, we hypothesise that modulation of mTORC1 activity mediates ROS effects on FI. To thi...

Introduction: Combination therapy using pegvisomant and cabergoline with first-generation long-acting somatostatin analogs (1GSSA) is a common procedure in acromegalic patients that are not fully controlled by surgery and 1GSSA. Pasireotide-LAR is a new multireceptor-targeted somatostatin receptor ligand that has superior efficacy over octreotide LAR to control GH and IGF1 levels. Little data is available about the efficacy and safety of pasireotide monotherapy in patients tre...

Controlateral recurrence of pheochromocytoma is frequent in MEN2 patients. Cortical sparing adrenalectomy is currently recommended in this situation, but conveys a risk of adrenal insufficiency in up to 45 % of patients. The natural history of recurrent pheochromocytome is poorly known. Thus, appropriate timing of surgery and the possibility to postpone safely surgery remain debatable. We report our experience of long-term follow up of non-operated 16 pheochromocytomas in 13 M...

Context: Mosaicism is a feature of several inherited tumor syndromes but is rarely systematically looked for in routine. MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors affecting parathyroids, pancreas, and anterior pituitary most of the time, due to inactivating mutations in the MEN1 gene. Few cases of mosaicism in Multiple Endocrine Neoplasia type 1 (MEN1) have been described. MEN1 mosaicism is probably under-diag...

The loss of nychthemeral rhythm is a feature of endogenous hypercorticism that may be investigated by the assay of midnight salivary cortisol (serC0h) although often replaced by serum cortisol assay. However, manufacturers of cortisol immunoassays kits seldom provide reference values for this horary. We present here tentative reference values of serC0h with an automated imunoanalyzer (DXi800, Beckman Coulter).The population retrospe...

Background: Pheochromocytomas and paragangliomas (mPPGL) are rare neuroendocrine tumors. Therapeutic options in advanced and irresectable mPPGL are limited. Two small retrospective studies demonstrated the effectiveness of temozolomide in patients with mPPGL and suggested that patients with mutation in the succinate dehydrogenase B (SDHB) gene might benefit more than SDHB wildtype cases.Aim: To re-evaluate safety and effectiveness of temozolomide in a la...

Objectives: Management of functional head and neck paragangliomas (HNPGLf) presents a substantial challenge due to their rarity, the lack of standardized treatment protocols, their complex neurovascular anatomical location, and the cardiovascular risks associated with catecholamine (CA) hypersecretion. This study aimed to describe the clinical characteristics of HNPGLf and their treatment outcomes.Methods: We retrospectively analyzed a cohort of HNPGLf p...

Background: Osilodrostat is a potent oral inhibitor of the adrenal enzymes aldosterone synthase and 11b-hydroxylase and decreases glucocorticoid and mineralocorticoid production and secretion. Phase 2 and 3 studies from the osilodrostat clinical trial programme have demonstrated the drug’s efficacy and safety in patients with Cushing’s disease. Osilodrostat received European Marketing Authorization (MA) for the treatment of Cushing’s syndrome (CS) in adults....

Background: Adrenocortical carcinoma (ACC) has an aggressive but heterogenous behaviour. ENSAT stage and Ki67 proliferation index are used to predict clinical outcome but are limited in distinguishing patients with best outcome. We aimed to validate the prognostic role of clinical and histopathological parameters alone or combined by applying a previously proposed points-based score (mGRAS, Lippert JCEM 2018) to a large multicentre cohort of ACC patients.<p class="abstext"...

Integrative genomics studies of paragangliomas (PGL) have shown that PGL susceptibility genes are the main drivers of tumorigenesis. Comprehensive genetic analyses have identified germline SDHB and, to a lesser extent, FH gene mutations, as predominant causes of metastatic PGL. However, some suspicious cases remain unexplained. We performed whole-exome sequencing of a paraganglioma exhibiting an SDHx-like molecular profile in the absence of SDHx<...