ESPE Abstracts

Congenital hyperinsulinemia occurs due to inappropriate insulin secretion from beta cells of the pancreas. It is the most common cause of resistant and recurrent hypoglycemia in neonates and infants and the threatment is very difficult. Although the incidence is reported as 1/50000, it is seen more frequently in consanguineous countries. Patients may present with lethargy, nourishment, irritability and seizures. If it is not treated, severe hypoglycemia may result in severe ne...

Introduction: Autoimmune polyglandular syndrome type 1 (OPS1) is characterized by chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenalitis. The mutations in the localized autoimmune regulator gene (AIRE) at 21q22.3 present the etiological cause.Objective: In this case report, two siblings case who were diagnosed with OPS1 with different clinical findings except classic triad were presente...

Introduction: Gain-of-function mutations in KISS1 and KISS1R genes and loss-of-function mutations in the gene encoding the makorin RING-finger protein 3 (MKRN3) expressed only in the paternal allele are the most common genetic reasons of familial central precocious puberty (CPP).Aim: We report a case of familial CPP and a pathogen variant in the MKRN3 gene.<stron...

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...

Background: Maternal overweight/obesity during pregnancy and excessive gestational weight gain (GWtG) have been recognized as important early-life risk factors for childhood obesity. We aimed to examine whether maternal BMI at 20 weeks of gestation and excessive GWtG were associated with alterations in body composition and metabolism in childhood in the offspring of primiparous mothers who participated in a randomised controlled trial of exercise regimen during pregnancy.<...

Objective: We assessed whether beta-cell function progressively decreases over time with greater type 1 diabetes mellitus (T1DM) duration using a mixed-meal tolerance test (MMTT). We also assessed simpler and more practical surrogate parameters for clinical use.Methods: We studied 57 children and adolescents with T1DM in Hangzhou (China), mean age at diagnosis was 8.3 years (range 2.3 to 15.3 years), with an average diabetes duration of 2.5 years (range ...

Background: In adult women, serum levels of AMH reflect both the number of small growing follicles and remaining primordial follicles. AMH levels range 15 fold between healthy girls. Interpretation of AMH is contentious due to minor intra-individual changes around time of pubertal onset despite continuous loss of primordial follicles.Objective and Hypotheses: To describe ovarian morphology (volume, follicles) in healthy girls and adolescents in relation ...

Background: Heterozygous mutations in the IGF1 receptor (IGF1R) are often associated with congenital IGF1 resistance, causing variable degrees of intrauterine growth retardation (IUGR) and postnatal short stature. To date, only one homozygous IGF1R mutation has been reported, in a child presenting with severe growth failure, mild intellectual impairment, microcephaly, dysmorphic features, and cardiac malformations.Objective: We now repo...

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

Background: Little data exist regarding the hypothalamic-pituitary-adrenal (HPA) axis activation and the interplay between the HPA axis and markers of pro- and anti-oxidation in children, following an acute aerobic exercise bout in children.Objective and hypotheses: To investigate the changes of HPA axis hormones following an acute bout of aerobic exercise and their respective association with markers of pro- and anti- oxidation in normal weight and obes...