ESPE Abstracts

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...

Background: Endocrine disrupting chemicals (EDCs), such as phthalates and bisphenol A (BPA), have been associated with insulin resistance (IR) and type 2 diabetes (T2D) in non-pregnant adults. By contrast, recent pilot studies of pregnant women found negative associations between phthalates and blood glucose, and a lack of association with BPA. No studies have examined gestational IR or secretion in relation to EDC exposure.Objective: To confirm these re...

Background: Wolfram syndrome (WS) is a monogenic disorder associated with diabetes mellitus (DM), optic atrophy, diabetes insipidus (DI), neurological deterioration and deafness. Growth has been poorly characterised in case series.Objective and hypotheses: To determine growth and prevalence of endocrine disorders, qualify therapies and metabolic outcome for DM, and relationship of cranial MRI findings to clinical findings in children and young people (CY...

Background: Obesity in childhood is defined by age- and sex-specific BMI cut-off values. However, BMI does not disclose the distribution of fat mass. Increased abdominal adipose tissue is associated with a higher risk of cardio-metabolic disease in adulthood. Thus, precise measurements of abdominal adipose tissue in children may enable early prevention of disease.Objective and hypotheses: To validate measurements of abdominal adipose tissue by anthropome...

Background: ICSI is an assisted reproduction technique (ART) mainly used to overcome male infertility. Nowadays, ICSI is employed frequently due to its high success rate, despite it being highly invasive (i.e. epigenetic risk). Recent studies in ART offspring show a higher incidence of cardio-metabolic risk than in naturally-conceived (NC) controls. Thus, in our prior untargeted metabolomic study between ICSI and NC prepubertal girls, we demonstrated insulin resistance in the ...

Background: The goal of congenital hypothyroidism (CH) treatment is rapid normalization and maintenance of TSH and FT4 in the reference range. Recommended starting dose of levothyroxine (LT4) ranges from 10-15 mg/kg/d. Hyperthyroxinemia can be accepted in the context of normal TSH and LT4 should only be reduced in case of symptoms or repeatedly increased FT4. The aim of this study was to quantify duration and maximum peak of FT4 levels outside the reference range for each CH s...

Objective: The treatment of children with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a challenge since both undertreatment and overtreatment with glucocorticoids can affect growth. Numerous reports in the literature have shown that the linear growth of individuals with CAH is affected and adult height is compromised. However, most of these data were obtained in the era before CAH newborn screening....

Introduction: The aim of this study was to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype with targeted next-generation sequence (NGS)analysis.Method: Patients with a clinical diagnosis of OI were included in the study. Initially, mutations in COL1A1 and COL1A2 genes which are known to be most responsible for OI were investigated. In the second step, a targeted...