Endocrine Abstracts

Background: Germline mutations in the Phosphatase and Tensin Homolog Hamartoma tumour (PTEN) gene are associated with a number of conditions, collectively known as PTEN hamartoma tumour syndromes (PHTS). Individuals with PHTS are at increased risk of a number of cancers primarily in adulthood including differentiated thyroid carcinoma (DTC) with an estimated lifetime risk of DTC of up to 38%. International guidance recommends screening commencing from 17 years while the 2017-U...

Introduction: In children, BRAF (e.g. dabrafenib) and MEK (e.g. trametinib) inhibitors are used to treat a range of tumours including low-grade gliomas, Langerhans cell histiocytosis (LCH), and plexiform neurofibromas. However, the ubiquitous nature of the BRAF/MAPK/MEK pathway in various physiological processes means that these treatments are not without their own side effects such as renal tubulopathies (causing hyponatraemia) and hyperglycaemia.Aim: T...

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Point mutations in HMGA2 have been reported in 4 patients worldwide causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective: Identify and f...

Objectives: DMD Care UK (www.dmdcareuk.org) is a national project initiated and funded by Duchenne UK in collaboration with Newcastle University and the UK North Star clinical network. The main aim is to facilitate implementation of care standards across the UK national health system. In 2021, DMD Care UK conducted a comprehensive online family survey of all aspects of care of boys with DMD with the aim of capturing the patients experienc...

A preterm baby was born at 23 weeks + 2 days gestation. She was managed on our tertiary care neonatal unit and remained ventilated for most of her stay. During her admission, she had recurrent episodes of clinically suspected NEC which were medically managed. Her feeds were discontinued on numerous occasions due to bilious aspirates, vomiting and abdominal distention. Given the patient’s clinical condition, a contrast study of the gastrointestinal tract was done using an enteral iodina...