Endocrine Abstracts

Advances in human genetics over the last two decades have discovered genes causal for thousands of monogenic conditions, characterized the mutational landscape of most forms of cancer, and identified tens of thousands of genetic variants influencing common complex traits such as diabetes and Alzheimer’s. Sequence-based diagnostics are now routinely deployed in early-onset genetic disease and in cancers, and the genetic analysis of complex traits has provided many novel an...

Background: PTMCs are papillary thyroid carcinoma nodules measuring ≤1cm. While the American Thyroid Association (ATA) do not recommend biopsy or follow-up for PTMC nodules, classifying it as a benign condition, some individuals develop cervical lymph node metastases (LNM), challenging its benign classification. Methods: We identified 52 cases of PTMC among 2,000 thyroid patients from 156 MDT meetings at Cork University Hospital (CUH) between Janua...

Background: Fat distribution in women with polycystic ovary syndrome (PCOS) is thought to favour accumulation of abdominal visceral fat, but there has been no systematic comparison of fat distribution in PCOS and normal controls using MRI scanning.Aim: Our aim was to compare distributions of visceral, abdominal subcutaneous and gluteo-femoral subcutaneous adipose tissue in PCOS cases versus control women using a cross-sectional design.<p class="abste...

Introduction: Ghrelin is a novel peptide involved in the regulation of appetite and energy balance. Dysregulation of ghrelin may play a role in the development of obesity in polycystic ovary syndrome (PCOS). Due to the strong association between BMI and PCOS, we hypothesised that obese women with PCOS have abnormal fasting and post-glucose load ghrelin levels compared with BMI-matched control women.Methods: Datasets included 18 women with PCOS, all with ...

Autoimmune pulmonary alveolar proteinosis (aPAP) is a disease whereby antibodies to granulocyte macrophage colony stimulating factor (GM-CSF) cause dysfunction of alveolar macrophages, leading to surfactant accumulation and respiratory failure. GM-CSF has a role outside the lung; promoting fusion of prefusion osteoclasts into multinucleated osteoclasts capable of bone resorption. Osteopetrosis is a disorder of reduced osteoclast function, causing failure of osteoclast-mediated...

Introduction: The pathogenesis of kidney stone disease (KSD) is poorly understood and has been linked to features of metabolic syndrome (MetS). Using conventional and genetic epidemiological analyses we studied associations of MetS phenotypes with risk of KSD.Methods: Multivariate Cox-proportional hazard models were used to assess association of BMI and waist-hip ratio (WHR) with KSD in 492,380 UK Biobank participants. Causal relationships between WHR, B...

Background and aims: HNF1A-MODY causes monogenic diabetes with a lean, insulin sensitive phenotype. Altered glucocorticoid (GC) metabolism has been implicated in the pathogenesis of type 2 diabetes (T2D) and inhibitors of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) which regenerates active cortisol from inactive cortisone have been trialled as a therapeutic approach. 11β-HSD1 is down-regulated in hepatocytes from Hnf1a knock-out mice but the role...

Background and aims: HNF1A-MODY causes monogenic diabetes with a lean, insulin sensitive phenotype. Altered glucocorticoid (GC) metabolism has been implicated in the pathogenesis of type 2 diabetes (T2D) and inhibitors of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) which regenerates active cortisol from inactive cortisone have been trialled as a therapeutic approach. 11β-HSD1 is down-regulated in hepatocytes from Hnf1a knock-out mice but the role...

Background: Kidney stone disease (KSD) has been linked to obesity, metabolic syndrome and higher serum calcium concentration (SCa). The mechanisms underlying these associations are uncertain. Using conventional and genetic epidemiological techniques, we aimed to investigate the effects of adiposity on KSD.Methods: Observational associations between adiposity and incident KSD in 479, 405 people from the UK Biobank were assessed. Genome-wide association st...

Background: Obesity plays an important role in the aetiology of polycystic ovary syndrome (PCOS). Variants in the fat-mass and obesity-associated (FTO) gene have recently been shown to influence adiposity and predispose to common obesity (Frayling et al., Science 2007 316 889–894).Aim: Our aim was to establish whether FTO variants are also implicated in PCOS-susceptibility.Methods: A genetic ...