ESPE Abstracts

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) is dramatically increasing among children worldwide. The gold standard for diagnosis is the liver biopsy. Reliable serum markers are lacking. Recently, circulating miRNAs have been studied as biomarkers of disease progression. Specifically, miR-122 was proposed as predictive marker for liver disease in adults, while no data are available for children.Objective and hypotheses: To inves...

Background: Maternal autoimmune hypothyroidism can have negative consequences on the fetus: on the one hand, maternal hypothyrosinemia might affect the fetal brain development in the early stages of pregnancy; on the other, thyroid inhibiting antibodies can pass through the placenta. It is currently unclear if these antibodies may affect the newborn’s thyroid function. Consequently, there are no certain indications regarding the management of newborns bor...

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...

Background: Several visfatin, retinol binding protein 4(RBP4) and high affinity receptor for RBP4, STRA6 (stimulated by retinoic acid) single nuclear polymorphisms’ (SNP) have been investigated regarding their relationship with obesity with controversial results.Aim: To analyze the association of two specific SNP for visfatin, RBP4 and STRA6 with anthropometric markers of obesity in children.Material and method: A case control...

Background: New-onset diabetes in youth can classically fall into three categories: type 1 diabetes (T1D), type 2 diabetes (T2D), or monogenic diabetes (MD). This classification is based on the underlying disease mechanisms, dictates treatment, and predicts outcome. Type B insulin resistance syndrome (TBIR) and ketosis-prone diabetes (KPD) are described in the African population, but their incidence in the pediatric population is very low.<p class="abstext...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype associated with primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Objective and hypotheses: Phenotype correlation study (clinical, hormonal, and histol...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype and streak gonad diagnosed late because of absent of pubertal development and primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Family case reports: Al...

Background: The syndrome of Taybi-Linder (TALS) or paramount dwarfism microcephalic of type 1 (MOPD1) is an uncommon illness characterized by an intra-uterine delay of growth, multiple malformations (short members, facial dysmorphie) and especially of the cerebral abnormalities. The infants carrying this disease can live until the age from 2 to 3 years and, often at the time of an infection, their state worsens quickly in a few hours (conscience disorder, convulsions) until th...

Background: Several factors (bone age, BMI, target height, age) have been previously demonstrated to impact on GH response during stimulation tests, none of them proving to be of crucial importance.Objective and hypotheses: To analyze the influence of several anthropometric and laboratory parameters on peak GH response during insulin and clonidine stimulation tests.Method: Retrospective review of 265 patients who underwent GH stimu...

Introduction: Monogenic diabetes (MD) accounts for at least 3% of all pediatric diabetes cases. MD is often misdiagnosed as type 1 or type 2 diabetes, because of its wide phenotypic spectrum. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a broad study to diagnose MD cases. Then, with the gained knowledge, we designed a new diagnostic to...