Endocrine Abstracts

In 2014 Torbay Hospital was a national outlier for diabetes control in the paediatric population. At this time a transformative quality improvement project which tracked the patient’s journey through the service resulted in the introduction of carbohydrate counting from diagnosis. Whilst other hospitals had already adopted this approach the Torbay team introduced a system of care where the patient/parent lead the process of calculating carbohydrates and insulin doses from...

Insulin resistance and androgen excess, alongside anovulatory infertility, are the cardinal clinical and biochemical features of polycystic ovary syndrome (PCOS). Circulating androgen burden and metabolic dysfunction in PCOS are closely correlated, but an independent contribution of androgens per se to metabolic and other complications of PCOS remains poorly characterised. My work since 2012 has focused on delineating the distinct impact of androgens on metab...

Background: The incidence of type 2 diabetes in childhood in the UK is increasing. It is often an aggressive disease associated with poor health outcomes. Despite this, there is little formal training and evidence based guidance.Objectives and method: A questionnaire was sent to each paediatric diabetes unit in England and Wales, evaluating variation in practice, training and confidence in the management of type 2 diabetes.Results:...

Ectopic (or ‘illegitimate’) transcripts, which have been widely used to study disease-causing mutations when samples from the appropriate tissue cannot be obtained, are generally faithful representations of the normal tissue-specific counterparts. Here, we report the occurrence of ectopic transcripts of the hepatocyte nuclear factor-1 beta (HNF-1β) gene, mutations of which may result in maturity onset diabetes of the young type 5 (MODY5), the renal cysts ...

Phyto-oestrogens are plant-derived compounds that have oestrogenic and/or anti-oestrogenic activity. They are constituents of many human foodstuffs but exposure is on the increase due to increasing availability of ‘herbal’ type medicines. The current study was initiated following the identification of large concentrations of lignan related phyto-oestrogen metabolites in the urine from a girl under investigation for precocious puberty.A GC-MS pr...

Background: A quarter of UK children now leave primary school obese. Childhood obesity is associated with significant comorbidity including obstructive sleep apnoea, type 2 diabetes, non-alcoholic fatty liver disease, hypertension and depression. We report our experience of using semaglutide, a weekly subcutaneous GLP1 receptor agonist, as a weight-loss adjunct for severely obese children in combination with dietary and lifestyle support from a multidisciplinary team.<p cl...

Ectopic adrenocorticotropic hormone (ACTH) syndrome occurs in about 5–10% of all patients with ACTH-dependent hypercortisolism. We present the case of a 35 year old gentleman who presented with a six month history of progressive 16 kg weight gain and breathlessness. Pulmonary imaging revealed bilateral infiltrates suspicious for Pneumocystis pneumonia (PCP). Physical examination was concerning for Cushing’s syndrome, with facial plethora, easy bruisability and broa...

Introduction: A previous case-report described one individual whose significant sleep disturbance in association with septo-optic dysplasia (SOD) was corrected with melatonin administration. Subsequently a trial of melatonin treatment in children with SOD and sleep disruption has become accepted clinical practice in many centres. There are however no published data describing melatonin secretion in these individuals.Methods: We studied six children with ...

Familial Juvenile Hyperuricaemic Nephropathy (FJHN) is an autosomal dominant disorder that is associated with gout and progressive renal failure. FJHN in 43 families has been reported to be caused by mutations in the UMOD gene, which encodes Uromodulin, also known as the Tamm-Horsfall Glycoprotein, and two families have been reported to have mutations in the transcription factor Hepatocyte Nuclear Factor 1β (HNF-1β), mutations of which usually cause maturity-o...

WNK1 (With-No-K, lysine) and WNK4 are serine/threonine kinases, mutated in Gordon syndrome (Pseudohypoaldosteronism Type II), a dominant, hypertensive, hyperkalaemic disorder; implicating this novel WNK pathway in normal regulation of blood pressure (BP) and electrolyte balance. Previous Xenopus oocyte work implicates WNK4 in regulation of K+ secretion via ROMK (renal outer medullary K+ channel) and Cl- transport pathways both paracellularly via tight junctions (claudin...