Endocrine Abstracts

Introduction: Visceral body fat has been shown to correlate with complications related to obesity. Body mass index (BMI) is widely used to define obesity in the adolescent population; however, it does not take the overall body composition into account. We present body composition data in a group of UK adolescents attending the tertiary MDT weight management service.Methods: Data was collected on 31 patients (M:F = 15:16) attending the MDT service over a ...

Introduction: The UK 100,000 Genomes Project (100KGP) investigated the genetic basis of rare disease. The molecular drivers of most paediatric pituitary disease remains unknown.Methods: Children with genetically unexplained pituitary disorders attending a tertiary paediatric endocrinology centre were recruited to the 100KGP and underwent whole genome sequencing. Parental DNA was obtained where feasible. Virtual gene panels were applied and bioinformatic ...

Introduction: Childhood obesity is associated with several complications related to physical and mental health. Determining health-related quality of life (HRQOL) is an important outcome measure to ensure patients receive the appropriate care.Aim: We report the baseline HRQOL in a group of UK children and adolescents with severe obesity who were managed in a Tier 3 weight management service.Methods: Paediatric quality of life (Peds...

Background: Immigrants from the Middle East to Sweden have a twice as high prevalence of type 2 diabetes (T2D) and obesity as native-born Swedes. Both obesity and T2D have been linked to increased incidence of cancer, cardiovascular disease (CVD) and all-cause mortality (ACM); however, data on differences between ethnicities are scarce. Aims: In a population-based cohort we aimed to study the impact of Middle Eastern and European ethnicity on ACM, cancer...

Introduction: Association between lymphoma and pituitary dysfunction is well documented, though most commonly through mechanism of infiltrative pituitary metastasis, or primary lymphoma of the pituitary, rather than autoimmune lymphocytic hypophysitis. Here we present a highly unusual case whereby investigation into the cause of Diabetes Insipidus with radiological features of lymphocytic hypophysitis, led to diagnosis and cure of Diffuse Large B-cell lymphoma (DLBCL). Diabete...

Background: The accuracy of thyroglobulin (Tg) as a tumour marker following lobectomy for differentiated thyroid cancer (DTC) remains controversial. A Tg (<10 µg/l) looked promising in identifying those without clinically apparent recurrence after median 51 months of follow-up. Longer term follow up allows assessment of the diagnostic utility of thyroglobulin in predicting relapse.Methods: Ninety-nine patients who underwent lobectomy for DTC wer...

Background: Many patients require IV insulin during their critical illness. Maintenance of insulin in St James’s Hospital ICU is governed by a local protocol. At the time of ICU discharge, IV insulin therapy is often stopped. Transitioning from IV to subcutaneous insulin is often done with endocrinology input. If this is unavailable inappropriate insulin dosing may increase the risk of hypo-/hyperglycaemia.Aims: To reduce the number of episodes of h...

Background: SGPL1 carries out the final degradative step of the sphingolipid pathway, irreversible cleavage of sphingosine-1-phopshate. SGPL1 deficiency is associated with a pathological accumulation of sphingolipid species and a multi-systemic condition incorporating primary adrenal insufficiency (PAI). Sphingolipid intermediates, ceramide and sphingosine are postulated to act as modulators of the steroidogenic pathway, acting as second messengers altering downstream expressi...

Background: Primary adrenal insufficiency (PAI) is a rare, genetically heterogenous condition, characterised by hypocortisolaemia and high plasma ACTH levels in the presence or absence of mineralocorticoid deficiency. PAI can be life-threatening if unrecognised, misdiagnosed or under/untreated. Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive form of PAI characterised by isolated glucocorticoid insufficiency. Mutations in the MC2R/ACTH receptor, ...

Introduction: Children with adrenal insufficiency require emergency hydrocortisone for serious illness in addition to any regular requirements. Individualised emergency plans for patients during sick days, detailing their oral and intramuscular hydrocortisone requirements, should be maintained, alongside appropriate alerts on hospital and pre-hospital systems to ensure health professionals are aware of their requirements promptly if they present acutely unwell. Following a chi...