ESPE Abstracts

Background and Aims: Thyroid hormones profoundly affect energy metabolism but their interrelation with food preference, which might contribute to childhood obesity development, are much less understood. Here we investigated if age-related changes of thyroid hormone levels are paralleled by specific modulation of food preference and potentially linked to the level of obesity in children and adolescents.Patients and Methods:</stron...

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Mutations in HMGA2 have recently been identified causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective:...

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...

Background: Central precocious puberty (CPP) is defined as the secondary sexual characteristics onset before 8 years of age in females and before 9 in males, due to premature activation of the hypothalamic-pituitary-gonadal axis. The underlying cause remains idiopathic in the great majority; based on the 2009 Consensus, 2% to 7% of girls who have onset of CPP between the ages of 6 and 8 years have unsuspected pathology and only 1% have a tumor such...

Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis through the activation of the gonadotropin releasing hormone (GnRH). Gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function mutations of the makorin RING-finger protein 3 (MKRN3) have been linked with CPP. Moreover intronic and intragenic variants harbouring the imprinted loci of MKRN3-MAGEL2 and DLK1 g...

Objective: Merge and standardize the scarce data on molecular and phenotypic findings of mutations in the human leptin receptor (LEPR) gene causing a rare form of severe early-onset obesity.Methods: We summarized functional and phenotypic traits of LEPR mutations reported in the literature in a structured and comprehensive manner. Additional data was obtained from 6 subjects of our outpatient clinic not reported so far. Functionality of mutations was ass...

Thyroid nodules are rare in pediatric age with an incidence of 1.8–3%. However, the risk of thyroid cancer is much higher in the pediatric population compared with adults. Among the pediatric cancer survivors there is an increased risk of developing a secondary malignancy and the thyroid cancers account for about 10% of these secondary tumors. From 2004 to 2017, we have recruited 43 patients (22 females; 21 males) with thyroid nodules among a population who had presented ...

Background: Growth monitoring of apparently healthy children aims at early detection of severe underlying conditions. Strong empirical evidence shows that current practices of growth monitoring are suboptimal. Practice standardisation with validated tools requires answering two questions: Which conditions should be targeted? How should abnormal growth be defined?Objective and hypotheses: To obtain consensus on a short list of priority target conditions o...

Background: Depending on age, needs and preferences in insulin therapy strongly differ between children and adolescents with type 1 diabetes (T1D).Objective and hypotheses: To analyse trends in insulin regimen and type of insulin used over the last two decades in three age-groups of pediatric patients with T1D from Germany/Austria.Method: 63 967 subjects (<18 year of age) with T1D documented between 1995 and 2014 from the &#145...

Background: Children born small for gestational age (SGA) are at risk for metabolic syndrome (MetS) as adults and show a higher prevalence of MetS components.Objective and hypotheses: To define the association between low birth weight and the presence of MetS in a cohort of obese Italian children and adolescents.Method: The presence of MetS was studied in a cohort of obese (BMI >90th centile) children and adolescents consisting...