Endocrine Abstracts

Introduction: Prader–Willi syndrome [PWS] is a complex genetic disorder with hypothalamic pituitary dysfunction that includes obesity, diabetes and behaviour changes. Obesity in PWS is due to decrease of oxytocin neurons and leptin resistance causing hyperphagia. Prader–Willi syndrome is associated with high incidence of altered glucose metabolism. The etiology for diabetes in PWS may be related to morbid obesity and resultant insulin resistance.<p class="abstext...

Introduction: GH has been proven to improve lean body mass and muscle strength. We report three cases where growth hormone replacement had a significant effect on gross motor function.Case series: A 15 month old boy was born at 33 weeks of gestation. During infancy, he was noted to have global developmental delay secondary to cerebral atrophy and isolated growth hormone deficiency. He was not able to pull himself to standing position but after commencing...

Background: Diabetic ketoacidosis (DKA) in children and young adults carries significant morbidity and mortality relating to complications such as cerebral oedema. Acute kidney injury (AKI) is a rare but potentially fatal complication of DKA. We present three cases of DKA complicated by AKI.Case 1: A 9-year-old girl presented with severe DKA at diagnosis. She was treated with intravenous fluids and insulin as per protocol. She had oliguria and haematuria...

Aim: To evaluate the paediatric specialist diabetes nurse (PDSN) delivered 24 h emergency telephone contact service for families with children and young people with type 1 diabetes within Hull and East Yorkshire Hospitals NHS Trust.Methods: A prospective audit of telephone calls received by the 2 PDSNs over a 15-month period between 1 July 2005 and 30 September 2006 for out of hours advice. All the phone calls were logged into a database and details of t...

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...

Background: Childhood obesity is increasingly associated with type 2 diabetes (T2D). Metformin reduces the risk for T2D in adult obese non-diabetic patients, but the evidence in obese children and young people (CYP) is inconclusive.Design: The metformin in obese children and adolescents (MOCA) trial was a prospective, multi-centre, randomized, double-blind, placebo-controlled trial of 1.5 g metformin daily in CYP with raised fasting or post-prandial insu...

Background and objective: Childhood obesity is associated with reduced insulin sensitivity and increased risk for type 2 diabetes (T2D). The objective of the MOCA trial was to investigate the effect of metformin in severely obese children and adolescents.Design and Methods: In a six month multi-centre randomized, double-blind placebo-controlled trial metformin (1.5 g daily) or placebo was given to children and adolescents (8–18 years) with insulin r...

Background: PWS is a rare neurodevelopmental genetic disorder characterized by hyperphagia, obesity, hormonal deficiencies, and problem behaviors for which there are no approved treatment. DCCR administration (100-525 mg/day) up to 52 weeks in participants with PWS improved hyperphagia, behavior, body composition and metabolic markers.Objective: The objective of this study was to compare changes in hyperphagia (using Hyperphagia Questionnaire for Clinica...

Background: Prader-Willi syndrome (PWS), a rare genetic neurobehavioral-metabolic condition, is characterized by hyperphagia, accumulation of excess fat, hypotonia, and behavioral/psychological complications. There are no currently approved medications to treat hyperphagia in patients with PWS; DCCR is under development as a treatment for PWS.Objectives and Methods: The objective was to evaluate long-term safety of DCCR in individuals with PWS. 125 parti...