Endocrine Abstracts

Background: The focal type of Congenital Hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin over-secreting β-cells within a restricted area of the pancreas. Early identification and intervention of the focal lesion is critical in CHI management, preventing both acute and chronic complications.Objective: The purpose of this study is to review outcomes of treatment response in focal CHI.Design: Retr...

Hypoxia is a primary stimulus for angiogenesis, which is important for tumour proliferation and survival. The effects of hypoxia on parathyroid tumour cells, which may be important for parathyroid autotransplantation in patients, are however, not known. We therefore assessed the effects of hypoxia on gene expression in parathyroid adenoma cells from patients with primary hyperparathyoridism. Cell suspensions from human parathyroid adenomas (n=5) were cultured and afte...

Introduction: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infants and children. Histologically there are two subgroups, diffuse and focal. Fluorine-18-L dihydroxyphenylalanine positron emission tomography (18F-DOPA PET/CT) helps to differentiate focal from diffuse CHI.Objective and hypotheses: To evaluate the feasibility of using 18F-DOPA PET/CT for the diagnosis of focal or diffuse CHI u...

Multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder characterised by the occurrence of parathyroid, pancreatic islet and anterior pituitary tumours, is due to mutations of a tumour suppressor gene, MEN1. MEN1 mutations have also been reported to cause familial isolated primary hyperparathyroidism (FIHP). Moreover, 15 identical MEN1 mutations have been reported to cause MEN1 or FIHP in unrelated families; thereby implicating a r...

Background: Guidelines on standards for diabetes care for children with type 1 diabetes (TID) recommend continuous (24 h/7-day-a-week) access to advice from specialist health-care professionals. However, for many diabetes teams, limited resources precludes provision of this service outside normal working hours. The use of regional networks may enable the implementation of safe, high quality and cost-effective support to patients and families ‘out of hours’.<p cla...

Background: Infertility is a common problem and the number of couples receiving assisted reproductive treatment (ART) is increasing. Using GnRH agonists (GnRHa) to trigger oocyte maturation has been shown to reduce risk of ovarian hyperstimulation syndrome (OHSS), a common complication of IVF, compared to the more traditional use of human chorionic gonadotropin (hCG). Kisspeptin has recently been shown to be a safe trigger of oocyte maturation in women at high risk of OHSS. Ki...

IntroductionPrimary Aldosteronism (PA) is the commonest secondary cause of hypertension. Mainstay therapy, adrenalectomy resects both hypersecreting and adjacent normal tissue. It is therefore only suitable for patients with unilateral disease (40% cases), whom are surgical candidates. Thermal therapy presents a plausible minimally invasive therapy, to target and disrupt hypersecreting aldosterone producing adenomas (APA), while also preserving adjacent ...

Familial hypocalciuric hypercalcaemia type 1 (FHH1) is mainly caused by loss-of-function missense mutations of the extracellular calcium-sensing receptor (CaSR), which is a parathyroid- and kidney-expressed G-protein coupled receptor that plays a pivotal role in mineral metabolism. Here, we report the unusual occurrence of a novel heterozygous in-frame CASR exon 4 deletion, c.(492+1_493-1)_(1377+1_1378-1)del, in a family with FHH1. This mutation is predicted...

Background: Children and young people living with severe obesity experience wide ranging complications of excess weight (CEW), however their prevalence is not well defined. We have evaluated baseline clinical characteristics and complications in two multi-disciplinary tier-3 paediatric weight management services in different regions of the UK.Methods: All new patients (n=185) aged 2–17 years seen in a 12-mo...

Introduction: NCMP (National Childhood Measurement Programme) data has highlighted a higher prevalence of childhood obesity in highly deprived areas, however the prevalence of complications from excess weight (CEW) in relation to social deprivation has not been previously reported. The aim of this study is to compare the demographic data along with CEW in children and young people (CYP) with obesity being managed at two different centres in the UK, with a very...