Endocrine Abstracts

Background: Lamin A/C mutations show heterogeneous phenotypes expanding from cardiopathies to lipodystrophies. R482-LMNA gene mutation is the hot-spot for familial partial lipodystrophic syndromes (FPLD2) and is characterized by an increase of intra-abdominal (visceral) fat. In contrast, the visceral fat phenotype of non-R482-LMNA mutated patients has not been well studied.Objectives: To compare the fat amount and visceral repartition o...

Familial Partial Lipodystrophy Syndromes (FPLD) are rare diseases characterized by partial lack of subcutaneous fat resulting in a severe metabolic syndrome and cardiovascular complications. Besides premature cell senescence, 2 main mechanisms are involved in FPLD: impaired adipocyte differentiation and lipid droplet, corresponding to two of the main causes of FPLD: LMNA-related FPLD2 and PLIN-related FPLD4. The objective of this study was to compare the clin...

Background: Weight gain in type 1 diabetes (T1D) patients has become a clinical problem due to less strict diets and more stringent glycemic targets. Thus, the number of overweight T1D in the USA increased from 3.4% in 1988 to 22.7% in 2007. Hyperinsulinism is involved in the genesis of obesity but in T1D, the impact of insulin therapy in weight gain is not established. Islet transplantation, now reimbursed in France, makes it possible to interrupt insulin. The aim of this wor...

Background: Lamin A/C mutations show heterogeneous phenotypes expanding from cardiopathies to lipodystrophies. LMNA-related heart disease has recently been shown to be associated with a high incidence of phenotypic progression and adverse arrhythmic and non-arrhythmic events. Anticipatory planning to prevent sudden death has been recommended in a multicentric cardiologic recruitment. Nevertheless the specific cardiac prognosis of R482-LMNA mutated patients, the hot-spot for pa...

Background and purpose: Type 1 myotonic dystrophy (MD), associates neuromuscular, cardiac, respiratory and endocrine disorders. The aim of this study was to determine the prevalence of thyroid disorders and of any causal factors.Methods: A retrospective single centre study was conducted, between 2000 and 2016, in 127 MD patients, diagnosed by familial genetic screening after informed consent. Clinical examination, TSH assay, 120-min glucose and insulin l...

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...

CYP24A1 gene encodes 24-hydroxylase that inactivates 1-25-OHvitaminD. Mutations induce infantile hypercalcemia, with high 1-25-OHvitaminD, contrasting with low PTH levels. Adult phenotypes are not well known yet. We report two cases of post-surgical persistent hypercalcemia, related to CYP24A1 mutations. Two unrelated patients, a 40-year-old female (#1) and 54-year old male (#2), were referred for nephrolithiasis, enthesis and hypertension in both, associated...

Background: The myotonic dystrophy type 1 (DM1) or Steinert disease is the most common inherited, autosomal dominant neuromuscular disorder in adult. The gonadal dysfunction has been known for many years in DM1 men with description of bilateral testicular atrophy but the factors influencing the different profiles of gonadal dysfunction, and their natural evolution are not clearly established. The purpose of this study was to determine the profiles of gonadal function on men af...

Objectives: Sirolimus inhibits adipocyte differentiation (Yeh PNAS 1995). This study compares weight and fat markers in two groups of patients treated or not with sirolimus, before and after transplantation.Patients and method: Nineteen islet-alone transplanted patients treated with sirolimus and 7 islet-alone or liver-transplanted patients NOT treated with sirolimus were compared 1 year after transplantation in terms of weight, fat mass (equation of bod...

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...