Endocrine Abstracts

Background: Novel pathogenic mechanisms involving replicative and oxidative stress have recently been described in familial glucocorticoid deficiency (FGD); including mutations in NNT. NNT supplies high concentrations of NADPH needed by the glutathione and thioredoxin anti-oxidant systems to detoxify mitochondrial H2O2.Six patients, from a consanguineous Kashmiri family, were diagnosed with glucocorticoid deficiency between...

Investigations of bone disorders which are often inherited have yielded important insights in the molecular mechanisms of bone development, osteoporosis and osteoarthritis. However, these studies have been hampered by the lack of available patients and affected families. To overcome this limitation, we have investigated mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) for hereditary bone disorders. Mice were kept in accordance with national welf...

Cushing’s disease (CD) is very rare in prepubertal children, and remains a challenge to diagnose and manage. We review the diagnostic features and therapeutic outcome of prepubertal (defined as testicular volume <4 ml (M) and breast stage <2 (F)) CD patients treated in a single centre. Fifteen prepubertal patients (median age 9.4 years; range 5.8–13.7) fulfilled standard diagnostic criteria for CD and there was male preponderance (12 M (80%), median age 9.1 y...

BACKGROUD: Parathyroid hormone (PTH) is normally secreted in a circadian rhythm and modulates bone turnover through the differential stimulation of receptor activator for nuclear factor kappa-B ligand (RANKL) and suppression of osteoprotegerin (OPG), both of which are fundamental factors in regulating bone turnover. We have studied the relationship between PTH and OPG over a 24-hour period.METHODS: Hourly peripheral venous blood samples were obtained fro...

Background: Branched-chain amino acids (BCAA) are elevated in morbid obesity and decreases significantly following bariatric surgery. This decrease is associated with the post-surgical improvement in insulin resistance (IR) and may be secondary to the reduction in BCAA flux from proteolysis or an increase in BCAA catabolism. Presently, the underlying mechanism is unclear.Aim: To investigate the changes in BCAA metabolism in morbidly obese individuals fol...

Object: The natural history and proper algorithm for follow-up testing of nonfunctioning pituitary adenomas (NFPAs) are not well known, despite their relatively high prevalence. The aim of this study was to suggest the optimal follow-up algorithm for NFPAs, based on the natural history.Methods: We followed up on 197 patients with NFPAs without any treatment (including surgery and radiation) at the time of detection, in a single center, between March 2000...

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: Inpatient admission presents an opportunity to deintensify treatment in people with diabetes and frailty. The Joint British Diabetes Society recommends checking HbA1c in people with diabetes and frailty during admission if it had not been checked in the preceding six months. The audit aimed to identify the proportion of people who had their HbA1c checked upon admission and, if appropriate, what proportion had their treatment deintensified.<p ...

Background: Complications of excess weight (CEW) clinics were commissioned by NHSE in 2021 to be leaders in the field of paediatric obesity using innovative models to deliver the highest quality patient care. Technological approaches offer a widely accessible tool which could potentially complement current clinical models of care. This study aims to explore children and young peoples (CYP) views on whether digital technology could/should be used to enhance CEW...

Background: The treatment of neuroendocrine neoplasms (NENs) of higher grade remains a dilemma. In these patients the role of immunotherapy is still unclear and predictive biomarkers are an unmet need. Herein, we present a revised translational analysis of the NET001 and NET002 (NCT03278405, NCT03278379) clinical trials.Methods: Patients with advanced WHO G2-3 NENs who had a gastroenteropancreatic (GEP) or a bronchial primary (excluding typical carcinoid...