ESPE Abstracts

Introduction: Several studies show the negative impact of low level of studies of parents on the dietary patterns and the degree of adiposity of their children. The objective of this study is to evaluate the relationship between the level of studies and compliance with the recommendations of healthy eating pyramid.Material and method: An anthropometric study was conducted in 895 Spanish children and adolescents (53% women), between 3 and 18 years old (10...

Background: Pediatric bone marrow transplantation (BMT) can lead to endocrine dysfunctions due to common pre-operative regimens involving chemo and radiotherapy.Objective and hypotheses: To evaluate the prevalence an time-of-onset of endocrine dysfunctions after BMT in children and adolescents.Method: A retrospective cohort-study design was performed. The inclusion criteria were: <18 years of age at the time of their allogenic ...

Background and Aim: IRS1 (Insulin Receptor Substrate 1) is involved in the insulin signalling pathway and abnormalities thereof have been related to metabolic disorders and obesity. In obese subjects, insulin resistance has been associated with changes in IRS1 expression in peripheral in blood. Sex-based differences in cardiovascular disease are well established. Previous results from our group disclosed the association between IRS1 placental methylation with ...

Introduction: The CCDC3 gene encodes for a protein expressed in endothelial cells and adipose tissue. Insulin increases its expression and, in turn, CCDC3 positively regulates adipogenesis and lipid accumulation. CCDC3 expression is increased in visceral adipose tissue from subjects with obesity. Gestational obesity can modify the metabolic programming in the offspring through epigenetic mechanisms. However, it is unknown whether the...

Background: Turner Syndrome (TS) is a chromosomopathy affecting 1 out of 2000-2500 live births. Although short stature, heart disease and ovarian dysgenesis are the best-known features, patients have variable cognitive impairments. Aim of this study is to analyze the cognitive profile of a cohort of patients enrolled between February 2018-March 2023.Methods: 49 TS patients [Group A: 45, X0 (n=13); Group B: mosai...

Background: Central precocious puberty (CPP) results from activation of the hypothalamic-pituitary-gonadal axis before the age of 8 years in girls and 9 years in boys. The molecular basis of the maturation of this axis is still poorly understood. The MRKN3 gene located in the Prader-Willi syndrome critical region (chromosome 15q11–q13), inhibit factors stimulating pulsative. GnRH secretion. In 2013 inactivating mutations in the MRKN3 gene were discovered...

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

Background: Kallmann syndrome (KS) is a genetic disorder, mainly characterized by the association of anosmia (due to hypo/aplasia of the olfactory bulbs) and hypogonadotropic hypogonadism (due to GnRH deficiency). Both partial or complete forms are described. Other features (skeletal and renal malformations, deafness, bimanual synkinesis) can be variably associated. Behind this phenotypic heterogeneity, there is a considerable complexity of genetic mutations. KAL1, <e...

Background: Spermatogonia contain processing bodies (P-bodies) that harbour P-element induced wimpy testis (Piwi) proteins associated specifically with Piwi-interacting RNAs to silence transposable DNA elements. In mice loss-of-function mutations in the Piwi pathway lead to de-repression of transposable elements, resulting in male-specific sterility.Objective and hypotheses: No previous studies have examined expression of transposons silencing gene micro...

Objective: Premature ovarian insufficiency (POI) is rare in adolescents, most commonly caused by genetic defects or cytotoxic therapy. The aim is to present the case of an adolescent girl with normal pubertal progress and irregular menstrual cycle, followed by amenorrhea.Case presentation: A 15 9/12-years-old girl presented because of lack of menses for the previous 21 months. She reported that she had menarche at the ag...