Endocrine Abstracts

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Background: Low vitamin B12 (B12) during pregnancy is associated with higher maternal obesity, insulin resistance (IR) and gestational diabetes (GDM). However, it is not clear whether these are causally related.Objective: B12 is a key co-factor of the DNA methylation cycle (1-carbon metabolism). We hypothesize that B12 plays a role in epigenetic regulation by altering circulating miRNAs (miRs) during adipocyte differentiation...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Introduction: Following a National training programme for Endocrinologists to provide RAI treatment for benign thyroid disease, the ESHT NHS Trust started Radioactive iodine (RAI) treatment for benign thyroid disease a couple of years ago. Previously ESHT trust patients were referred to neighbouring trusts for RAI treatment.Data/Results: The data was collected over a 12-18 month period. A total of 34 patients received RAI treatment during this period; 28...

Background: Diabetes mellitus (DM) is the commonest endocrinopathy, Worldwide. Amongst the protean complex genetic variations, cubulin gene and megalin gene mutations in diabetes are important in dictating genotype-phenotypic correlations and natural clinical course of diabetes. The genetic studies in this area are especially very sparse from Indian sub-continent. In this context, we analyzed the prevalence of cubulin (CBN) and megalin (LRP2) gene mutations, as part of NGS (Ne...

Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterised by hypercalcemia, skeletal fragility, and renal stones with majority (75%) of parathyroid tumours localized to the inferior parathyroid glands. The reasons for this natural bias are not known till date. A probable reason may be due to inherent differences in the molecular milieu of normal superior and inferior parathyroid glands. Such questions cannot be answered using superior and inferior parathy...

Background: Follicular differentiated thyroid cancer (FDTC) is the most common endocrine cancer, globally. Next-generation sequencing (NGS) in thyroid cancer allows for high-throughput genetic sequencing in short time. This analysis offers useful information on tumor biology. NGS Studies on follicular differentiated thyroid cancer are scanty from South East Asia. In this context, we set out study the pattern of a genetic panel wide somatic mutations in thyroid cancer.<p cl...

Introduction: An audit of outcomes and indications for parathyroidectomy was conducted from April 2016 to April 2018 for all patients had primary hyperparathyroidism at East Sussex Hospitals Trust.Methods: Clinical notes, pathology results and radiology results were accessed to compile the dataset. Indications for surgery were based on the National Institute of Health criteria for parathyroidectomy in hyperparathyroidism from 2013....

Background: Dysfunctional endoplasmic reticula (ER) and mitochondria contribute to the pathogenesis of obesity and type 2 diabetes mellitus (T2DM). This may, in part, be facilitated by cross-talk between the two organelles during conditions of nutrient excess such as obesity, however the potential impact of ER stress on mitochondrial function has not been well studied. This study investigated whether induction of ER stress in human adipocytes may contribute to mitochondrial dy...

Introduction: Nelson’s syndrome is a significant long-term complication of bilateral adrenalectomy for Cushing’s disease. However, evidence about possible factors that can predict its occurrence, is controversial and limited.Objective: The objective of this analysis was to elucidate the role of various factors in prediction of Nelson’s syndrome and the extent of their modifying effect.Methods: All patients with Cushi...