Endocrine Abstracts

Background: Self-limited DP often segregates in an autosomal dominant pattern, but in the majority of patients the neuroendocrine pathophysiology and its genetic regulation remain unclear. By comparison, many genes have been identified where loss-of-function mutations lead to IHH. Despite likely overlap between the pathophysiology of DP and conditions of GnRH deficiency, few studies have examined the contribution of mutations in IHH genes to the phenotype of DP.<p class="a...

Background: In diffuse CHI (CHI-D) insulin release is uncontrolled due to mutations in the ABCC8/KCNJ11 genes. Increased rates of cell proliferation have also been reported, but the mechanisms responsible for this are unknown. We hypothesized that this may arise as a consequence of failure to terminate proliferation in the neonatal period. Here, we examined the proliferative index (PI) of islet cells in CHI-D patients and compared this with focal CHI (CHI-F) ...

Background: Data remain conflicting regarding the long-term metabolic consequences of prematurity and the impact of early nutrition and catch-up growth. Adiponectin and leptin are adipocyte derived proteins (adipokines) and are thought to be important regulators of insulin action.Objectives: i) To investigate the influence of infant growth and contemporary body composition on adolescent adipokine secretion.ii) To investigate the co...

Background: CHI is a cause of severe hypoglycaemia in children. Diazoxide (KATP channel agonist) is used as first-line treatment but is known to cause severe hypertrichosis and reduced appetite in children. Diazoxide unresponsive CHI us treated with daily octreotide subcutaneous injections (3–4 times/day).Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of long acting Somatostatin analogue (Lanreotide) thera...

Background: Currently there are no evaluated diabetes teaching packages for primary school age children which meet their learning needs, styles and are delivered by trained educators. Sheffield children’s Hospital produced and tested, as a randomized controlled trial (RCT), the KICk-OFF course for 11–16 year olds. This 5-day course based on carbohydrate counting and insulin dose adjustment showed significant improvement in HbA1c (9 mmol/mol, 0.8%) for those with poor...

Background: Silver-russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify (a) response to GH based on genotype and (b) developme...

Introduction: In children with PWS, dysfunction of HPA axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Methods: 18 (4M/14F) children with PWS, with a median age of 2.51 years (0.6,9.9), underwent insulin tolerance test (11/18, median age 3.8 years (2.1,9.9)) or glucagon stimulation test (7/18, median age 1.8 years (0.6,2.4)) as part of their assessment before commencin...