Endocrine Abstracts

Hyperpolarisation-activated cyclic nucleotide-gated channels (HCNCs). are selective for Na+/Ca2+ under physiological conditions and are responsible for the rhythmical electrical behaviour of pacemakers in the heart and brain. Their role in human pancreas has not been reported previously. Congenital hyperinsulinism of infancy (CHI) is an inherited disorder of inappropriate insulin secretion often caused by gene defects in the subunits of KATP ch...

Congenital Hyperinsulinism (CHI), a common cause of persistent hypoglycaemia in infancy can be associated with feeding problems (FP). The extent of FP in CHI is not known. The commonest genetic cause of CHI is mutations in ATP-sensitive potassium (K+ATP) channel genes (ABCC8 and KCNJ11).Aims: To define FP in CHI patients presenting to a regional centre, in relation to medication and K+ATP ...

Background: From population studies, short and long sleep duration are associated with obesity. This association has not been studied in patients with type 2 diabetes (T2D).Methods: Design: Cross-sectional study of adult T2D patients recruited randomly from outpatient department of a large UK tertiary centre. Patients with known sleep-related disorders were excluded. Data were collected during one-to-one interviews. Sleep duration assessment: 7-day sleep...

Objective: To evaluate whether patients with congenital adrenal hyperplasia (CAH) have been successfully transitioned to adult endocrine care.Methods: All patients with CAH who had attended the paediatric adrenal clinic at RMCH and were currently between 16 and 30 years of age were identified. Current status of adult endocrine care was recorded.Results: Sixty-eight patients were identified. There was inadequate information on 16 pa...

In severe CHI which is unresponsive to medical therapy, pancreatic resection is undertaken to prevent further hypoglycaemia from dysregulated beta-cell insulin secretion. Traditionally, 95% subtotal pancreatectomy has been the surgery of choice (Lovvorn et al. 1999), with associated risks of post-operative complications such as lifelong diabetes and malabsorption. Since the introduction of 18F-DOPA PET-CT imaging, clinicians have been able to effectively differentia...

Background: Congenital Hyperinsulinism (CHI) is a disease of severe hypoglycaemia due to insulin hypersecretion, that can be recognised either early or late in childhood. CHI is associated with adverse neurodevelopmental outcomes. The Vineland Adaptive Behaviour Scales Second Edition (VABS-II) is a parent-report measure of intellectual and developmental functioning, which could be used to screen children with CHI for impairments.Aims: To investigate reli...

Introduction: Congenital Hyperinsulinism (CHI) is a heterogeneous condition caused by dysregulation of insulin secretion. Paternally inherited mutations in ABCC8 or KCNJ11 are associated with loss of the maternal 11p15 allele in focal CHI (CHI-F). CHI-F can be curative after selective lesionectomy. However, histological heterogeneity within the CHI-F lesions has not been previously reported. We aimed to examine the diversity in focal lesions and correlate wit...

Introduction: In response to the proposed move to decommission genitoplasty surgery for DSD, we investigated parental views on surgery for girls with virilising 46XX Congenital Adrenal Hyperplasia (CAH).Materials and Methods: In this prospective study, after ethical approval, parents of surgically treated CAH girls completed an electronic questionnaire.Results: 50 parents were cont...

Introduction: Timing of DSD surgery is debated. This study aimed to investigate outcomes of genitoplasty in CAH and assess patient’s opinion on surgery.Materials and methods: In this ethically approved prospective study, surgically treated CAH girls ≥16 years completed an electronic questionnaire.Results27 patients were contacted 13 completed questionnaires, 10 declined, 4 did not reply. Current median age 27 ...

Background: Increasing age is associated with poorer survival in DTC [Oyer SL, 2012]. In the phase 3 COSMIC-311 trial (NCT03690388), cabozantinib, an inhibitor of VEGFR2, MET, AXL and RET, significantly improved the progression-free survival (PFS) vs placebo in previously treated patients with RAI-R DTC (HR 0.22, 96% CI 0.13-0.36; P<0.0001; median follow-up 6.2 months). The impact of age on efficacy and safety was included in the prespecified subgroup analysis.</p...