Endocrine Abstracts

BackgroundLong-term effects of an increase in unsaturated fatty acids and protein on changes in intrahepatocellular lipids (IHL) are still unclear. We aimed to explore the impact of changes in individual macronutrients on IHL changes within the NutriAct intervention trial over 12 months in middle-aged and elderly subjects (50–80 yrs) at risk for age-related diseases.DesignIn the NutriAct randomized contr...

IntroductionMeasurements of thyroglobulin (Tg) and Tg antibodies play a crucial role in the follow-up of treated differentiated thyroid cancer (DTC) patients, for instance to determine the response to therapy and the use of additional investigations and therapies. The aim of this study was to explore, from a laboratory perspective, the practical implications of the substantial clinical role of these measurements being imposed by national and internationa...

Objectives: To assess antenatal and individual-level predictors of thyroid function across two longitudinal cohorts of children.Methods: Data were taken from two cohorts i) CATSII: 5-10 year-old children enrolled in the CATS (Controlled Antenatal Thyroid Screening) study II from the UK ii) ‘PAX8’: Children from the ENID (Early Nutrition and Immune Development) trial, a pregnancy and infant supplementation trial in The Gambia (Africa) recruited ...

Background: Understanding of changes in salivary and lachrymal gland functions after radioiodine therapy (131I-therapy) remains limited; and, to-date no studies have evaluated dose-response relationships between absorbed dose from 131I-therapy and dysfunctions of these glands. This study investigates salivary/lachrymal dysfunctions in differentiated thyroid cancer (DTC) patients six months after 131I-therapy, identifies 131I-therapy related risk ...

Familial hypocalciuric hypercalcaemia type 1 (FHH1) is mainly caused by loss-of-function missense mutations of the extracellular calcium-sensing receptor (CaSR), which is a parathyroid- and kidney-expressed G-protein coupled receptor that plays a pivotal role in mineral metabolism. Here, we report the unusual occurrence of a novel heterozygous in-frame CASR exon 4 deletion, c.(492+1_493-1)_(1377+1_1378-1)del, in a family with FHH1. This mutation is predicted...

Primary adrenal insufficiency (PAI) in children is usually congenital with more than 25 causal genes with overlapping phenotypes. Genetic diagnosis helps to guide management and genetic counselling but can be challenging in resource limited settings. The most common genetic aetiologies for PAI in Sudan are congenital adrenal hyperplasia (CAH; mostly CYP21A2) and Triple A syndrome (AAAS). Here we investigate other genetic aetiologies of PAI in a cohort of 43 Sudanese families (...

Introduction: In response to the proposed move to decommission genitoplasty surgery for DSD, we investigated parental views on surgery for girls with virilising 46XX Congenital Adrenal Hyperplasia (CAH).Materials and Methods: In this prospective study, after ethical approval, parents of surgically treated CAH girls completed an electronic questionnaire.Results: 50 parents were cont...

Late diagnosis of type 1 diabetes, leading to diabetic ketoacidosis (DKA) is a significant concern in the UK. The National Paediatric Diabetes Audit 2021/22 showed that 25.6% of children and young people diagnosed with type 1 diabetes in England and Wales presented in DKA, with a rising trend over recent years. Reduction in DKA at diagnosis is part of Aim 1 of the National Children & Young People’s Diabetes Network (NCYPDN) Delivery Plan 2020–25. A working group ...

Introduction: Timing of DSD surgery is debated. This study aimed to investigate outcomes of genitoplasty in CAH and assess patient’s opinion on surgery.Materials and methods: In this ethically approved prospective study, surgically treated CAH girls ≥16 years completed an electronic questionnaire.Results27 patients were contacted 13 completed questionnaires, 10 declined, 4 did not reply. Current median age 27 ...

Background & Objective: Late night salivary cortisol (LNSC) and 1 mg overnight dexamethasone suppression test (DST) are two of the three recommended screening tests for Cushing’s syndrome (CS). The classical DST uses serum cortisol, but analysis of salivary cortisol and cortisone has shown high diagnostic accuracy at DST (1). Salivary cortisol can be analysed with immunoassays, which suffer from variable degree of cross reactivity with other steroids, or with LC-MS/MS...