Endocrine Abstracts

Besides total body irradiation and immunosuppressive drugs, massive iodine supply and stress might participate in thyroid dysfunction, described in 50% of allo-HSCT. We report on a rare case of hypothyroidism related to blocking TRAb. A 55-year-old man was admitted for asthenia, dyspnea, myalgia, 8 kg-weight gain, constipation, dry skin, hoarse voice, recent deafness. He had moon face without any goiter. He had received, 1 year before, an unrelated 9/10 human leukocyte antigen...

Von Hippel Lindau disease (VHL) induces tumors of kidneys, central nervous system, pancreas and paragangliomas We report one case where ectopic Cushing syndrome revealed VHL. A 19-year old was referred for hirsutism and spaniomenorrhea revealing an ACTH-dependent Cushing syndrome. Mineralocorticoids, calcium metabolism, chromogranine A, calcitonine, pancreatic hormones and urinary 5-HIA were normal. Blood nor- and metanephrine were 5.12 μg/l (n<5) and 0.92 &#95...

The biological diagnosis of pheochromocytoma (P) and/or paraganglioma (Pgg) relies on the identification of excessive secretion of the metanephrines. Chomogranin A (CgA) is a general indicator of neuroendocrine tumours that is highly expressed in P and correlate with tumour mass and secretory activity. The CgA test could be indicated as a useful test in patients with false positive metanephrines results. The aim of our prospective bi-centre study, is to evaluate the performanc...

Introduction: Anti-thyrotropin receptor antibodies (TSHR-Abs) stimulating the thyroid (TSAb) are responsible for Graves’ disease. In some patients, the TSHR-Abs can block thyrotropin action (TBAb) and cause hypothyroidism, the switch between stimulating and blocking activity in Graves’ disease being well. This reports aims to describe clinical presentation of patients affected directly by hypothyroidism.Material and methods: Retrospective clini...

Calcium-sensing receptor gene (CASR) loss-of-function mutations lead to familial hypocalciuric hypercalcaemia (FHH), neonatal severe hyperparathyroidism, and primary hyperparathyroidism. FFH is characterized by mild hypercalcaemia, hypocalciuria, calcium clearance/creatinine clearance (CaCl/CrCl) <0.01, normal or high PTH level. Nevertheless the phenotype may vary (Thakker 2012). The aim of this work was to compare the phenotypes of patients bearing or not a pathogenic <em...

Introduction: Adrenal pheochromocytomas have the same embryonic origin, i.e. the neural crest, as peripheral neuroblastic tumors such as ganglioneuromas, ganglioneuroblastomas and neuroblastomas. Ganglioneuromas are benign and silent tumors in that they usually do not secrete catecholamines in contrast to pheochromocytomas. Rarely, they can associate with pheochromocytomas to form composite tumors.Patients and methods: We have retrospectively studied sev...

Gitelman syndrome (GS) is a recessive salt loosing tubulopathy caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive Na+-Cl− cotransporter, and characterized by secondary hyperaldosteronism, hypokalemic alkalosis, hypomagnesemia and hypocalciuria.The aim: Of the work was to investigate 27 adult patients with hypokalemia due to renal potassium wasting after exclusion of diuretics abuse, vomiting or diar...

Neonatal severe hyperparathyroidism (NSHPTH) and FHH, usually defined as a ratio of calcium clearance/creatinin clearance <0.01 with normal kidney function and vitamin D status, are caused by respectively heterozygote and homozygote inactivating mutations of the CaSR gene. The aim of this study was to assess the interest of analyzing CaSR in hypercalcalcemic subjects suspected to have FHH.Patients and methods: Forty hypercalcaemic subjects fro...

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (AI) with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, asplenism and pneumonitis are also observed but their incidence remains unknown and their mechanisms not well understood. APECED has been poorly reported in France alt...