ESPE Abstracts

Background: A 10 year old girl with a background history of severe autism and developmental delay presented with significant and rapidly progressive asymmetrical breast enlargement accompanying her relatively rapid progress through puberty. There was associated tissue breakdown exacerbating her discomfort and leading to increasing problems with anxiety and behaviour.Objective and hypotheses: To explore the aetiology of the huge breast development and the...

The metabolism of several trace elements is altered in diabetes mellitus (DM). The present study investigates serum levels of lipid profile and lipid per-oxidation as well as levels of Mg, Cu, Ni, Co, Mn, Cr, Se, V and Zn, in 72 males with non-insulin-dependent DM (T2DM) and 21 non-diabetic healthy control subjects using inductively coupled plasma optical emission spectrometry (ICP-OES). The results showed highly significant increase in serum concentrations of LDL-C, TG and ch...

Background: Currently, little information is available on current growth status according to birth weight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the non-SGA groups.Methods: Data from the population-based nationwide Korean survey 5th Korea National Health and Nutrition Examinatio...

Background: Blood glucose levels are physiologically controlled by insulin and counter-regulatory hormones, mainly glucagon. Type 1 diabetes patients are deficient in insulin and some level also glucagon. Therefore, bi-hormonal closed-loop system seems to be the best way to control glycemia.Objective and hypotheses: There are two main approaches to add glucagon: (a) as safety measures for rescue in case of hypoglycemia (2) as a mean to optimize metabolic...

Background: The first three children reported to have biallelic mutations in RNPC3 presented with growth hormone (GH) deficiency and pituitary hypoplasia (MIM#618860). RNPC3 codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. The underlying mechanism causing GH deficiency in these patients is not fully understood. Moreover, whether the association of further ho...

Fertility and puberty onset are controlled within the brain by a neural network that drives the secretion of gonadotropin-releasing hormone (GnRH) from hypothalamic neuroendocrine neurons. During postnatal development, various permissive signals must be integrated for the initiation of sexual maturation but the molecular events that orchestrate the timely activation of the GnRH neurons remain a major unsolved biological mystery. Increasing evidences point out Micro-RNAs (miRNA...

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...

Hypercalcaemic disorders in children may present with poor feeding, hypotonia, lethargy, dehydration, vomiting, polyuria, failure to thrive, seizures and hypertension. The causes of hypercalcaemia in children, which can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, are similar to those occurring in adults except that primary hyperparathyroidism and malignancy which the most common causes in adults, and account for >90% of adult patients with hype...