Endocrine Abstracts

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...

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...

The aim of this retrospective study was to compare the long-term evolution of adrenal insufficiency (AI) due to bilateral adrenal surgery (S) or medical cause (M).Seventy AI patients (mean age 41±16 years; 60% female, similar in both groups) were followed during a mean 6-year period (2–16); 38 were AI after bilateral adrenalectomy (60% Cushing), 32 AI of medical origin (62% polyglandular autoimmune syndrome). BMI, blood pressure (BP), fasting b...

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...

Pheochromocytomas are neuroendocrine tumors able to synthesise cathecholamines as well as to metabolise them in metanephrines (NM,M). We assayed Adrenaline, NorAdrenaline, Dopamine and metanephrines in serum (p) and urine (u), and the chromogranin A. We measured 11 parameters (Ap, Au, NAp, NAu, Du, MNp, MNu, Mp, Mp, 3Metu, CgA). Catecholamines and metanephrines were performed using HPLC with electrochemical detection, and CgA with an immunometric as...

The aim of this retrospective study was to compare the long-term metabolic evolution of a cohort of patients treated for adrenal insufficiency (AI), and the best biological parameters of a good balance.Seventy patients with AI (mean age 41 years (±16); 60% female) were followed during a median 6-year period (2–16 years): 38 after bilateral adrenalectomy (60% Cushing) and 32 after AI of medical origin (62% polyglandular autoimmune syndrome). BMI...

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...

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...

Autoimmune polyendocrine syndrome type 1 (APS1) is an autosomic recessive disease due to AIRE gene mutations, inducing central immune tolerance breakdown. It was poorly known in France.Objectives: To describe clinical and immunological phenotypes, to determine main genotypes in West Northern France (9 millions inhabitants), to identify factors that could influence phenotypes, and to analyse immunosuppressive therapies indications in APS1.<p cl...

Increased basal or pentagastrin-stimulated calcitonin level is the cornerstone for the biological diagnosis of medullary thyroid carcinoma, but is also observed in patients with C-cell hyperplasia (CCH) of the thyroid. In a prospective multicenter study we re-evaluated the reference ranges of basal calcitonin (bCT) in 287 euthyroid controls without thyroid disease (142 men-45 smokers, 3 deprived, 145 women-27 smokers). The CT levels were measured using 2 different assays (Cis-...