Endocrine Abstracts

Hypothyroidism presents diagnostic challenges when occurring in an extremely unwell infant with hepatoblastoma. This case indicates a possible link between Beckwith–Wiedemann syndrome (BWS) and severe hypothyroidism.Antenatally, the baby had polyhydramnios and an abdominal mass. After normal vaginal delivery at 38+4 weeks, examination showed macrosomia (4007 g) small nose, low set ears and inverted V-shaped mouth. Transient hypoglycaemia on day 1 re...

Introduction: Testicular germ cell tumours are the most frequent cancer of young men. Epidemiological and clinical data have suggested that fetal or perinatal exposure to environmental endocrine disruptors (EEDs) with estrogenic effects, could participate to testicular germ cell carcinogenesis. However, EEDs (like bisphenol A (BPA) are often weak ligands for classical nuclear estrogen receptors.Using a human seminoma cell line (JKT-1), devoid of ERα...

Background: Burosumab (a monoclonal antibody inhibiting elevated FGF23 activity) targets the pathophysiology of XLH better than conventional phosphate and activated Vitamin D and shows encouraging research findings. Whilst marketing authorisation underway, enrolment into a Named Patient Scheme was possible. Delivery of new treatment modalities can present practical challenges. We report our experience of initiating the first UK cohort.Methods: Seven pati...

Introduction: Continuous subcutaneous insulin infusion (CSII) can improve glycaemic control and quality of life in Type 1 Diabetes patients. It is uncommon for paediatric patients to discontinue CSII and return to multiple daily insulin injections (MDI) often due to concerns regarding worsening metabolic control. However a trial off CSII is a requirement before transition to the adult clinic. We review the outcomes of those who discontinued CSII in our centre (total 248 patien...

Introduction: Recently a serious incident due to failure in rechecking blood glucose (BG) after hypoglycaemia treatment was reported in an adult inpatient. We evaluated adherence to network guidance on hypoglycaemia management in inpatients and changes in practice following an intervention based on education and system changes.Methods: In an audit (audit-1), hypoglycaemia episodes (BG level <4 mmol/l) were identified in paediatric inpatients (age &#6...

Background: The plasticity of adrenal cortex suggests the presence of adrenocortical stem cells (ACSC) but the exact in vivo identity of ACSC remains elusive. A few studies have demonstrated the differentiation of adipose or bone marrow-derived mesenchymal stem cells (MSC) into steroid-producing cells. We therefore investigated the direct isolation of MSC from human adrenal cortex.Methods: Adrenals were obtained as discarded surgical material. S...

New adrenal lesions discovered during cross-sectional abdominal imaging pose an increasingly common diagnostic challenge; their initial management should focus on the exclusion of malignancy and autonomous hormone excess. The role of adrenal biopsies in this context is limited and pathologists often struggle to differentiate benign from malignant adrenal tissue even when analysing the entire tumour specimen. Guidelines recommend that adrenal biopsy should only be considered if...

Glycogen storage disease type 1b is a metabolic disorder resulting in an inability to shuttle glucose-6-phosphate across the sarcoplasmic/endoplasmic reticulum (SR/ER) lumen. Mutation of the SoLute Carrier 37a4 (slc37a4) or glucose-6-phosphate transporter (G6PT) gene responsible for the distribution of G-6-P across this membrane leads to, hypoglycemia, hepatic glycogen accumulation, hyperlipidemia, resulting in life-limiting outcomes including growth retardation and neutropeni...

Follistatin-like 3 (FSTL3) is an endogenous glycoprotein inhibitor of transforming growth factor-β (TGFβ) ligands such as activin. TGFβ ligands are integral to key cellular processes such as proliferation, development and differentiation, including angiogenesis. It is not clear, however, how FSTL3 and activin action affect tissue and organ functions in health and disease. We have identified a group of activin-responsive genes that have an expression pattern clos...

Several recent publications have advocated that patients with primary and secondary adrenal insufficiency (PAI and SAI) be given emergency injectable hydrocortisone to reduce the risk of adrenal crisis. There is a limited evidence-base for this recommendation and consequently the Edinburgh Centre for Endocrinology (ECE) does not routinely issue kits to its patients. This study assessed the frequency of hospital presentations in ECE’s AI patients, and the severity of their...