ESPE Abstracts

Background: Ttf1−/− mice had complete absence of follicular and parafollicular cells, agenesis of lung parenchyma, ventral forebrain, and pituitary. Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro...

Background: Obesity is characterized by an increase in fat mass caused by an increase in adipocyte number and adipocyte size and is often associated with adipose tissue (AT) dysfunction contributing to metabolic impairment. It is suspected that adipocyte progenitor cells play an important role during healthy and obesity-related AT expansion. Studies in adults showed that the stroma vascular fraction (SVF) of AT is composed of different progenitor cell subpopul...

Background: Clinical observations of children and adolescents with differentiated thyroid cancer (DTC) patients led us to investigate quality of life and anxiety. Although adult DTC survivors have similar or slightly worse quality of life (QOL), this has not been evaluated in the pediatric population.Objective and Hypotheses: In this cross-sectional pilot study, our objective was to compare QOL and anxiety in adolescents with DTC to patients with acquire...

Background: The growth and IGF1 responses to GH treatment show a large variation across children with idiopathic short stature (ISS). Compliance and GH regimens are important determinants. The d3 variant of the GH receptor (GHR) is a significant genetic predictor. The role of individual epigenetics had not been studied. The IGF1 locus is an attractive candidate where CG methylation could influence GH action.Objectives: To study GH effects on a) IGF1 gene...

Background: Medullary thyroid cancer (MTC) in MEN 2A is caused by mutations in RET. Guidelines (2001/2009/2015) recommend prophylactic total thyroidectomy (TT) based on mutation specific risk levels (ATA 2015: high/moderate).Objective: The aim of this study was to analyse changes of age at TT, frequency of metastatic MTC (MMTC), and frequency of TT according to guidelines since introduction of RET testing in 1995....

Background: Short stature has several causes ranging from complex hormonal deficiencies mostly related to pituitary gland genetics, to idiopathic and environmental causes such as maternal smoking in pregnancy, etc. Floating harbor syndrome is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, retarded speech development, and typical facial dysmorphic features. The syndrome is caused by heterozygous mutations in exon 3...

Background: The thyroid gland is a common unintended target during and after cancer treatment in childhood cancer survivors. However, only a limited number of studies have assessed thyroid adverse events of newer or more selective anticancer drugs. The main objectives of this review are to provide an overview of thyroid disorders in children, treated with 131 I-metaiodobenzylguanidine (131 I-MIBG), tyrosine kinase inhibitors (TKIs) and immune checkpoint inhibi...

Background and methods: Sellar and suprasellar tuberculomas are extremely rare in children and most often patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. Here, we report a girl with hypothalamic obesity, that recovers after antituberculosis treatment.Findings: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephal...

Background: Hypoglycemia is the most common and most feared complication of insulin treated diabetes. Though mostly asymptomatic, nocturnal hypoglycemia can be fatal in rare cases: sudden nocturnal death is more frequent in diabetic patients than in others. It is postulated that hypoglycemia related QTc prolongation contributes to cardiac arrhythmia and can lead to dead in bed.Objective: To evaluate influence of nocturna...

Background: The height of children has a Gaussian distribution. Genetics explain an important part of individual variability, but no single genomic variant accounts for more than 0.3% of height variance. At the interface of genetics and environment, epigenetics is expected to contribute to phenotypic variability. IGF1 is an attractive locus to test this hypothesis.Objectives: To quantify the effect of CG methylation of IGF1 promoters on height.<p cla...