ESPE Abstracts

Introduction: Resistance to Thyroid Hormone (RTH) is a clinical syndrome characterized by impaired end-organ responsiveness to Thyroid Hormone (TH). The cardinal features of this syndrome are elevated serum levels of free THs with normal or high TSH, often with goiter and no clear symptoms of thyrotoxicosis. Mutations in the Thyroid Hormone Receptor beta (THRB) gene constitute the most frequent cause of RTH, defined as RTHβ.<p class="abstext"...

Background: H syndrome (OMIM #602783) is an autosomal recessive syndrome resulted from mutations in the SLC29A3 gene, encoding hENT3 protein. Characteristic findings are cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus, cardiac anomalies, hallux valgus and short stature. Herein we report a girl with multiple endocrinopathies due to H syndrome.Case: Ten year and 5 month old girl was referred be...

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

Background: Neonatal diabetes (NDM) is a rare form of monogenic diabetes which usually presents before 6 months of age. Both transient and permanent NDM have been described.Objective: To report the molecular genetics and clinical characteristics of patients with NDM from a single centre in Sri Lanka.Method: Retrospective analysis of clinical and molecular genetic data from patients referred to Lady Ridgeway Hospital Endocrinology u...

Background: Childhood obesity is a growing global problem that linked with health issues including type II diabetes. Early screening and diagnosis using OGTT and/or HbA1c of obese children is recommended in order to minimize type II diabetic risk. OGTT requires fasting and two venesections impeding the child’s compliance. In contrast, hemoglobin A1c (HbA1c) is a convenient test and evaluation of HbA1C as a diagnostic tool of type II diabetes in the obese...

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

Introduction: Genetic factors play an important role in determining individual susceptibility to weight gain and obesity. In the last few years, several genetic variants have been identified as monogenic forms of obesity. Among them, Leptin (LEP) and its receptor on hypothalamic neurons (LEPR) are key players in the regulation of body weight, food intake and energy homeostasis. Pathogenic variants in the LEPR gene cause severe childhood-onset obesity with an a...

Background: Obese adults with normal glucose tolerance (NGT) but 1-h post load glucose (1 hPG)≧155 mg/dl have an increased cardiometabolic risk. In children, preliminary data suggest that 1hPG≧132.5 mg/dl might identify those at higher risk of type 2 diabetes.Objective and hypotheses: To assess whether NGT obese youth with 1hPG ≧132.5 mg/dl (High-NGT) have worse insulin sensitivity and secretion compared to obese youth with 1hPG &#60...

Background: In Brazil there is a nutritional transition between child malnutrition and increasing prevalence of obesity.Objective and hypotheses: The study aims to identify the prevalence of overweight and obesity in children aged 5–18 years in five private and 15 public schools from city of Uberaba Brazil.Method: Anthropometric data, inventorys physical activities and socioeconomic aspects were evaluated from 1125 individuals...