Endocrine Abstracts

Ken K Y Ho, University of New South Wales, Sydney, Australia AbstractKen Ho is a professor of Medicine at the University of New South Wales and is the Head, Pituitary Research Unit, Garvan Institute of Medical Research and Chairman, Department of Endocrinology, St. Vincent's Hospital, Sydney.He graduated in medicine at the University of Sydney in 1975, undertook research studies towards a Doctora...

BackgroundMany microRNAs (miRNA) have been proposed as promising molecular markers of papillary thyroid carcinoma (PTC). However, there are limited data on the correlation between miRNA expression, and neck lymph node metastasis. Analysis of miRNAs expression data may improve perioperative decision making for patients with PTC, specifically in identifying patients harboring neck lymph node metastases (LNM).Aim of the study<p cl...

Background: Monogenic obesity is generally considered to only be responsible for a small proportion of genetic obesity with the vast majority attributable to polygenic obesity. Previous studies estimate that monogenic obesity accounts for less than 5% of obesity in Caucasian populations.Aims and method: To identify prevalence and clinical characteristics of monogenic obesity, we reviewed clinical notes of 219 patients currently, or recently (within 24 mo...

Anti-Mullerian Hormone (AMH) is a 140 kDa gonadal glycoprotein of the TGFβ family, with two subunits linked by two disulfide bridges. Since a first assay in 1990, three generations of assays occurred: the 1st and 2nd were manual assays. The 3rd was automated: Access AMH Kits (Beckman Coulter) and Elecsys AMH (Roche). We had the opportunity to compare two new analysers with the Elecsys AMH: Vidas (Biomérieux) and Lumipulse G (Fujirebio). The later are one-step sandwic...

Introduction: The use of multigene panels in thyroid nodule diagnosis is still limited, due to high costs and need for ad hoc sampling. Since BRAF-V600E is the commonest genetic alteration in differentiated thyroid cancer, this is the mostly tested genetic parameter in clinical practice.Aim: To evaluate the use of BRAF mutation analysis in wash-out liquid from fine needle aspiration (FNA) in clinical practice, characterizing th...

BackgroundResidual adrenocortical function (RAF) is present in one third of patients with autoimmune Addison’s disease (AAD), yet its clinical significance remains unknown.ObjectiveTo investigate if biomarker profiles of cardiovascular disease and inflammation are different in patients with AAD and RAF compared to patients without RAF and healthy controls.Material and methods<p...

Background: Germline pathogenic or likely pathogenic (P/LP) variants occur in approximately 10% of NEN patients with recent data suggesting a higher frequency in pancreatic NENs or paraganglioma/pheochromocytoma (PPGL). However, identification of VUS can complicate interpretation of germline results, particularly when diverse populations are under study and the optimal gene panel size for testing remains unclear.Methods: A single-center retrospective cha...

Background: Compound heterozygous POLE1 mutations have previously been described as a cause of IMAGe syndrome. The severity of the adrenal insufficiency (AI) at initial presentation has been a subject of ongoing debate. Case report: At 22 weeks gestation the proband’s mother was referred to paediatric endocrinology for low oestriol on antenatal quadruple testing. The pregnancy was complicated by severe growth restriction leading to emergency caesare...

The skeletal dysplasias or genetic skeletal disorders (GSDs) are a heterogeneous group of over 450 conditions associated with varying degrees of disproportionate short stature. The diagnosis of these conditions has relied on a combination of clinical and radiographic assessment. The original classifications of the GSDs was based on x-ray imaging, but Spranger and others predicted that there would be ‘families’ of GSDs with the same underlying molecular basis. The adv...

Introduction: Genetic testing can improve the diagnosis of rare genetic diseases of obesity and identify patients who may benefit from targeted therapeutic intervention. For example, patients with genetic defects in the melanocortin-4 (MC4R) pathway may present with severe early-onset obesity and hyperphagia. Historically, however, genetic testing in patients with obesity has been limited. The Uncovering Rare Obesity® diagnostic genetic testing program aims to enhance acc...