ESPE Abstracts

Background: Based on growth screening rules, severe short stature (i.e. height SDS less than -3), at the age of more than 3 years, warrants diagnostic evaluation in specialized health care. In the absence of apparent underlying cause, targeted and eventually untargeted genetic studies have been proposed. However, the etiology of short stature at the severe end of the spectrum is poorly characterized.Methods: We ...

Background: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...

Background: The anogenital distance (AGD) is defined as the distance from the anus to genital tubercle. AGD is an established method for sex determination of pups in rodents, and in animal studies, AGD is strongly affected by androgen exposure during fetal life. In accordance, human studies have reported reduced postnatal AGD following prenatal exposure to anti-androgenic agents, suggesting AGD to be a sensitive postnatal read out of in utero exposure...

Background: Fibroblast growth factor 21 (FGF-21) is a complex molecule involved in lipid and glucose metabolism. FGF-21 shares biochemical pathways and sites of action with thyroid hormones. Current data correlate FGF-21 levels to thyroid function. The aim of the present study was to investigate possible associations among FGF-21 levels, resting metabolic rate (RMR), lipidemic profile and L-thyroxin replacement therapy treatment in children and adolescents wit...

Introduction: Adolescent obesity is often characterized by comorbidities with cardiovascular effects in adulthood. Treatment options for these conditions are limited during adolescence. Basic research in animals and clinical data in adults have shown that Crocus Sativus (Krokos Kozanis) has a beneficial effect on dyslipidemia, obesity and type 2 diabetes.Aim: The study of the lipidemic profile in fasting state, in adoles...

Background: Insulin-like factor 5 (INSL5), a member of the insulin superfamily, is expressed in the colorectum and hypothalamus. INSL5 levels are elevated by prolonged calorie restriction and declined with feeding, suggesting that it might be an orexigenic hormone.Objectives and hypotheses: Our aim was to explore the relationship between INSL5 and different metabolic parameters in lean and obese subjects and to identify possible links between INSL5 and t...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disorder resulting from loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency can cause a spectrum of complications in children including premature deciduous tooth loss, rickets, poor growth, and compromised physical function. We previously reported that children, 5–12 years old, with HPP and treated with asfotase alfa, a recombinant bone-targeted huma...

Background: Psychosocial factors may be fundamental explaining poor glycaemic control in children with type 1 diabetes (T1DM). Anxiety, depression are well described in children with T1DM. According to Kauffman (2012), diabetes management can only be successful if psychosocial needs are assessed and addressed.Objective and hypotheses: To examine the association between glycaemic control and scores on two screening tools measuring psychosocial risk and em...

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:...

Objectives: The homozygous GHR pseudoexon (6ψ) mutation leads to aberrant splicing of the GHR gene with clinical and biochemical heterogeneity. We investigated whether the phenotypic variability could be explained by transcript heterogeneity i.e. ratio of abnormal (6ψ GHR) to normal (WT GHR) transcripts and/or the presence of concurrent defects in other short stature (SS) genes.Methods: 6&#968...