Endocrine Abstracts

CaSR-autoantibodies may cause auto-immune hypercalcemia through either simple blocking or biased properties. The phenotype of this rare disease is most often acquired hypocalciuric hypercalcemia (AAH) (Minanbres JCEM 2020, Makita JCI insight 2022), but sometimes hyperparathyroidism (Pelletier-Morel Intern Med 2008), in elderly. Gender, auto-immune context is variable. Blood calcium may fluctuate, and acute exacerbations may be successfully treated with predni...

Adipsic hypernatremia, a rare hypothalamic disorder characterized by a loss of thirst in response to hypernatremia is more often reported in children. An autoimmune mechanism has been recently demonstrated. We report two cases.Case1: A lean 67-year-old female, with a history of multilocular sclerosis, was admitted, for severe hypernatremia (162 mmol/l) with low ADH level (0.5 pmol/l; N: 0.5-2). She did not complain of thirst, despite ideomotor slowing an...

Objective: To describe the Carney Complex (CNC) manifestations presented by patients harboring the PRKAR1A mutation c.709(-7-2)del (one of the three hotspots) in a large cohort of patients.Methods: Multicenter retrospective study. Age at the diagnosis or at the screening of the different CNC manifestations is described by mean ± standard deviation.Results: Forty patients [12 index cases, 27 females, 46±15 years o...

Introduction: Sirolimus, a mTOR (mechanistic Target of Rapamycin) inhibitor, is well known for its impact on glucides and lipids metabolism. These effects vary according to factors such as dose and treatment duration, species, cell types and environmental factors. In vitro and in vivo, sirolimus inhibits adipogenesis by decreasing adipocytes number and size, as well as pre-adipocytes differentiation, leading to subcutaneous and visceral fat mass decrease in m...

MEN4 is a rare disease characterized by the development of multiple endocrine tumors caused by mutations in the CDKN1b gene encoding the cyclin dependent kinase inhibitor P27Kip1. Here we report two new cases and address the potential link of MEN4 with autoimmunity. The 1st patient, a 66-year old woman, presented at 35 years high prolactin levels without evidence of pituitary adenoma, treated medically. At 51 years, she was diagnosed with mild primary hyper...

Lipodystrophy is a rare disorder characterised by loss of adipose tissue, severe insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis with hypoleptinemia. Renal complications are also present but end stage renal disease is less frequent in partial lipodystrophy. We report efficacy and pharmacokinetics of metreleptine during hemodialysis in one case of partial lipodystrophy. A caucasian female presented with acute pancreatitis, major hypertriglyceridemia (25 g/...

A rapidly growing neoplastic mass of the neck can either be caused by an anaplastic thyroid cancer (ATC) or a primitive lymphoma of the thyroid gland (PLT). These two malignancies share the same clinical features but vary widely in their treatment and outcome. Only histologic criteria through biopsy can provide a definitive diagnosis. The aim of this study was to assess biological and radiological differences between ATC and PLT in order to hasten differential diagnosis. Sixty...

Bone is involved in both phosphate-calcium and energetic metabolism. Osteocalcin, secreted by the osteoblasts, stimulates insulin secretion and improves insulin sensitivity. FGF-23, secreted by the osteoclasts, increases phosphate urinary excretion and is a marker of insulin resistance. Relationship between insulin-resistance, body fat and bone metabolism remains unclear. Therefore, the aim of this study was to evaluate osteocalcin and FGF-23 levels in diseases differing by bo...

Irisin is a myokine correlated with lean body mass, despite its association with cardiovascular events (Mantzoros 2014). Increased muscle volume and lipoatrophy have been reported in female FPLD (Ji JCEM 214). Our aim was to determine whether irisin could help to distinguish certain lipodystrophic obesities from FPLD.Methods and patients: Circulating irisin levels (EIA Phoenix) were measured in 20 LMNA-related FPLD, 19 normal-weighed controls (H) and 13 ...

This study describes the evolution of retinopathy 5 years after islet transplantation (IT) with the Edmonton protocol in type 1 diabetic patients. Before IT and then yearly for 5 years, 21 patients (13 islet-alone (ITA), 8 islet-after-kidney (IAK)) underwent monitoring of laboratory parameters, continuous 24 h mean blood pressure (24h BP) and 72 h glucose (CGM), as well as complete ophthalmologic examination. Ten of the 21 patients (48%) were insulin-independent 5 years post-I...