Endocrine Abstracts

IntroductionPheochromocytoma might be associated with hypercortisolism and post-operative adrenal insufficiency. The aim of this study is to determine the frequency of cortisol dysregulation before and after pheochromocytoma surgery.MethodsSingle center retrospective study of consecutive pheochromocytoma patients investigated in the Endocrinology department of Cochin Hospital before and after surgery from 200...

Background: Cushing’s syndrome (CS) is associated with high morbidity and presents high interindividual variability. Easily measurable biomarkers, in addition to the hormone assays currently used for diagnosis, could better quantify the individual biological impact of glucocorticoids. The aim of this study is to identify such biomarkers through the analysis of whole blood transcriptome.Methods: Whole blood transcriptome was evaluated in 57 samples (...

Objective: Large response of steroids precursors, including 17-hydroxyprogesterone and 11-deoxycortisol, to ACTH has been described in adrenocortical tumors, suggesting the existence of intra-tumoral enzymatic deficiencies. This study aimed to compare steroidogenic enzymes activity in unilateral and bilateral benign tumors using serum steroid profiling in HPLC-MS/MS in basal state and after ACTH 1-24 stimulation.Design and Methods: A serum profile of sev...

Background: Molecular classification is important for diagnosis and prognosis of adrenocortical tumors (ACT). Transcriptome profiles separate benign ACT (“C2” cluster) from carcinomas (ACC) and identify two groups of ACC, “C1A” (“steroid” and “proliferation” signatures) and “C1B” (“immune” signature), of poor and better prognosis respectively. However, these signatures were characterized at the tissue level (“bul...

Introduction: The gold standard for insulinoma diagnosis is still 72-hours fasting trial with the aim to trigger Whipple’s triad. In this context, biological diagnosis of endogenous hyperinsulinism relies on the occurrence of a hypoglycemia, concomitant with inadequate high insulin and C-peptide levels. However, diagnostic cut-offs are not consensual among the different learned societies (Endocrine Society 2009, NANETS 2010, ENETS 2012). The objective of this wor...

Background: Hyperphagia leading to craniopharyngioma-related obesity (CRO) is a common and serious sequel of treatments of craniopharyngiomas. The few therapeutic approaches that have been tested until now for the control of eating behaviour and weight have poor efficacy. Glucagon-like peptide-1 (GLP-1) analogues might be an option. Methods: This multicentre, randomised, double-blind superiority trial was conducted in France. Adults with CRO (BMI > 3...

Introduction: PBMAH is an heterogeneous disease from the clinical, hormonal, and morphological point of view. ARMC5 inactivating mutations have been reported as a cause of PBMAH. PDE11A4 variants have been associated with PBMAH and NR3C1 variants with bilateral adrenal incidentalomas.Aim: To analyse the frequency of ARMC5 pathogenic mutations and PDE11A4 and NR3C1 variants in PBMAH patients.<p cla...

Dopamine agonists (DAs), used as first line therapy in patients with macroprolactinomas, and antipsychotics have opposite effects on dopamine receptors (D2R). In patients with severe psychiatric conditions treated with antipsychotics, the rare occurrence of a macroprolactinoma, particularly with optic chiasm compression, represents a therapeutic challenge. Indeed, on one hand, antipsychotics by their antagonistic effect on D2R, could decrease or even abolish the effects of DAs...

Protein Kinase A (PKA) consists of two catalytic and two regulatory subunits with several isoforms (Cα,β,γ, RIα,IIα,Iβ,IIβ). In 30–40% of cortisol-producing adrenocortical adenomas (CPA) heterozygous activating somatic mutations in the catalytic subunit α (Cα) of PKA have been found. Previous reports found strikingly reduced levels of RIIβ in CPA compared to other adrenocortical tumors. Here, we investigated the correlatio...

Introduction: The Carney Complex is a multiple endocrine and non endocrine neoplasia mostly due to PRKAR1A mutations. Spectrum of manifestations and genotype-phenotype correlations have been previously described by retrospective studies. A prospective study evaluating the occurrence of the different manifestations was needed to precise the optimum follow-up.Methods: Multi-center national prospective study (Clinical Trials NCT00668291) including 70 patien...