ESPE Abstracts

Introduction: The outcome of hypospadias is considered to be primarily dependent on the underlying aetiology, its surgical management and the duration of follow-up. However, currently, there is little consensus on what set of parameters are essential and clinically feasible for assessment of outcome.Aim: To facilitate the development of a core outcome set for hypospadias by assessment of the range of outcomes reported in boys undergoing surgery.<p cl...

Background: Studies in adults with type 1 diabetes (T1D) have indicated that adiponectin is negatively associated and leptin positively associated with measures of a residual beta cell function (RBF).Objective and hypotheses: To compare serum adiponectin and leptin levels and their ratio in children with T1D for 3–5 years with and without RBF and in healthy children.Method: We included 342 children (173 females) with T1D, here...

Background: The low-dose short Synacthen test is a popular diagnostic test of adrenal insufficiency in children. It is employed by 82% of UK paediatric endocrinologists. Although various dosing strategies exist, 1 μg is most commonly employed, however none of the low-dose forms are commercially available. A BSPED survey revealed 14 different methods for diluting 250 μg/ml ampoules.Objective and hypotheses: Do various dilution strategies result ...

Background: There is no agreement on the optimal treatment of children with vitamin D deficiency or insufficiency without obvious signs of rickets.Objective and hypotheses: To compare the efficacy and side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) in children with vitamin D deficiency or insufficiency without rickets.Method: A total of ...

Background: Type 1 diabetes mellitus (T1DM) continues to pose serious health risks with devastating long-term complications. UK management and control of T1DM in children and young people (CYP) remains amongst the poorest in Europe and significant variations in diabetes health outcomes are evident. In 2012–13 a Best Practice Tariff (BPT) for paediatric diabetes care was introduced and a National Peer Review Quality Assurance programme (DQuINS) developed. Both were develop...

Background: DEND syndrome is characterized by developmental delay, epilepsy, and neonatal diabetes mellitus (NDM) due to mutations in KCNJ11 and ABCC8 genes. Intermediate DEND (iDEND) syndrome is a rare mild form with mild motor, speech or cognitive delay and an absence of epilepsy. Improvement in glycemic control and neurologic symptoms has been reported in three cases with iDEND syndrome.Objective and hypotheses: To present the result...

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...

Background: Increased glycaemic variability (GV) (short-term fluctuations in blood glucose level) is associated with increased oxidative stress, vascular complications and mortality in diabetic and prediabetic patients.Objective and hypotheses: To investigate the relationship between GV and inflammatory markers in obese children with metabolic syndrome (MS) and insulin resistance (IR).Method: Fifty obese adolescents with insulin re...

Background: Subclinical hypothyroidism (SH) has an incidence of 3.2–22.2% in obese children. The etiology of increased prevalence of SH is still unclear in obese individuals.Objective and hypotheses: To investigate the relation of SH with iodine deficiency, serum leptin levels and metabolic parameters in obese children and adolescents.Method: One hundred and fifty nine obese and 54 healthy children and adolescents were include...

Background: Genetic defects in the insulin receptor (INSR) are rare. Precise prevalence is unknown and significant clinical heterogeneity exists. Over 120 allelic variants have been described to date, spread throughout the receptor, and few geographical founder effects have been described. In this case series we identify a novel missense mutation in the tyrosine kinase domain of the INSR in three independently ascertained Irish families.Objective and Hyp...