ESPE Abstracts

Introduction: The wide aromatization of androgens during puberty is responsible for the rapid bone maturation at this age. In this context, the use of aromatase inhibitors (AIs) has been justified by the potential to slow down the advancement of bone age and thus improve growth. For more than two decades, studies have pointed out the validity of AIs to improve the predicted final height (PFH). However, data on near-final height (NFH) of children treated with A...

Genomic imprints in humans are epigenetic marks inscribed upon our genomes from the earliest stages of our development, forming a permanent memory of our parental origin. Approximately 1% of human genes are imprinted, with expression that is permanently restricted to either the paternal or the maternal DNA. Genetic or epigenetic errors of imprinting cause a range of imprinting disorders, each with distinctive effects upon growth, development, metabolism and behaviour.<...

Background: Intrauterine growth restriction (IUGR) is associated with higher risk of cardiometabolic disease. Perturbation of endoplasmic reticulum (ER) homeostasis activates a set of ER-to-nucleus signaling pathways known as unfolded protein response (UPR). We previously showed that IUGR is associated with the activation of hepatic UPR and abnormal glucose profile in male Sprague-Dawley rats. Herein, we report the impact of IUGR on pancreas UPR in the same ex...

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15. Either a paternal deletion of the PWS region (50%), a maternal uniparental disomy (mUPD; 43%), an imprinting defect (4.1%) or translocation (<1%) can lead to PWS. Deletions are almost always de novo and manifest either as a large type I or a smaller type II deletion. In more rar...

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

Background: Kabuki syndrome (KS) is a rare dominant disorder of transcriptional regulation with a complex phenotype including cranio-facial dysmorphism, intellectual disability, developmental delay, hypotonia, failure to thrive, short stature and variable cardiac and renal anomalies. Mutations in either KMT2D or KDM6A cause KS. While the phenotype of KS has been reported in many ethnicities, little is known about the phenotypic spectrum of KS...

Context: Delayed TSH elevation (dTSH) is defined as elevated TSH in the second neonatal screen following normal TSH in the initial screen. The clinical outcome of newborns with dTSH is not entirely elucidated, although several studies have suggested a full recovery in most cases.Objective: We aim to elucidate the natural history of dTSH in a group of neonatal intensive care newborns. In addition, we aim to define clinica...

Objective: Vaspin plays an important role in the foetal and postnatal development of children. The effect of early-onset infection in neonates on vaspin levels is not well known.The aim of the study: 1) evaluation of serum vaspin concentrations in full-term appropriate-for-gestational-age (AGA) newborns, according to their gender, birth asphyxia, type of delivery, occurrence of early-onset infections; 2) analysis of correlations between serum vaspin conc...

Objective: To evaluate the effect of Ziyin Xiehuo granules (ZYXH) and Zishen Qinggan granules (ZQ7G) on partial precocious puberty (PPP).Methods: The present study was a multicenter, randomized, single-blinded, positive-controlled trial. A total of 143 patients were assigned to either the ZYXH group or the ZQ7G group using a random number table. The ZYXH group received ZYXH three times daily for 6 months, while the ZQ7G group received ZQ7G three times da...

Introduction: There is no valid evidenced-based recommendation for the optimum basal insulin dose in type-1 diabetes mellitus when supplied either by continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI). We studied this previously by evaluating the dose associated with successful fasting. Another way of looking at this is by evaluating the association between basal insulin dose and HbA1c. To this end we performed a retrospective study of 89 childr...