ESPE Abstracts

Aim: The 45,X/46,XY karyotype is rare with an estimated incidence rate of less than 1/15.000 live births. It represents from Turner females to phenotypically normal males with varying degrees of genital ambiguity. Although, high gonadotropin levels have been described in 0–5 years old girls with Turner syndrome, high FSH level is not well known finding in prepubertal girls older than 6 years.Case: A 6 y 8 m girl presented with lipomastia. She was bo...

Background: Low birth weight (bw) and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. However, very little is known about the impact on thyroid function.Objective and hypotheses: In a longitudinal study we observed genetically identical twins with intra-twin bw-differences from birth until adolescence to objectify the impact of a lower bw on development and health in later life....

Background: In some studies, prepubertal children born small for gestational age (SGA) have had a higher prevalence of premature pubarche and higher serum DHEAS concentrations than children born appropriate for gestational age (AGA). The overall metabolic risk associated with birth weight is U-shaped, but it is not known if children born large for gestational age (LGA) have elevated serum DHEAS levels.Objective and hypotheses: The aim of this study was t...

Background: The use of insulin pumps is rapidly spreading within the paediatric T1D community. A few small studies have promoted pump usage, while large registries have shown almost no advantage of this treatment.Objectives: Compare the results of treatment with insulin pump (‘Pump’) with insulin injections (‘Inj’) in a large cohort of children with T1D in field conditions.Patients: We studied 3137 children of t...

Background: Leprechaunism, due to a mutation of both alleles of insulin receptor gene, is a most severe and precociously life-threatening condition, difficult to treat.Objective and hypotheses: In leprechaunism rhIGF1 may replace insulin through I the insulin-like metabolic properties of its own receptor.Method: rh IGF1 was continuously subcutaneously administered through a.pump from the age of four months and adjusted according to...

Background: Severe insulin resistant (IR) type A is a rare inherited disorder characterized by glucose metabolism disturbances without obesity, acanthosis nigricans and hyperandrogenia due to INSR defects.Case report: A 10-year-old girl was admitted because of skin papillomatosis and hyperpigmentations since her 7 years. She had early puberty with pubarche at 8 years and telarche at 9 years. Examination revealed normal height and weight (SDS BMI...

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...

Introduction: There is no valid evidenced-based recommendation for the optimum basal insulin dose in type-1 diabetes mellitus when supplied either by continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI). We studied this previously by evaluating the dose associated with successful fasting. Another way of looking at this is by evaluating the association between basal insulin dose and HbA1c. To this end we performed a retrospective study of 89 childr...

Background: Diabetes mellitus (DM) in childhood was mostly type 1 DM (T1DM), but sometimes it is not easy to classify, especially in the case having both type 2 clinical phenotype and autoantibody positivity. It is named as latent autoimmune diabetes in youth or type 1.5 DM (T1.5DM).Objective and hypotheses: This study was designed to evaluate the clinical characteristics of T1.5DM who had autoantibody positivity with clinical phenotype of T2DM.<p cl...

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...