ESPE Abstracts

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

Background: Pseudohypoparathyroidism type 1b (PHP1b) is caused by epigenetic errors on the maternal GNAS allele at differentially methylated regions (DMRs) associated with exons A/B, XL, and NESP that lead to reduced production of Gαs transcripts most notably in the renal proximal tubule and thyroid follicular cells. Most PHP1b cases appear sporadically, few of which can be explained by paternal uniparental disomy involving chromosome 20q, leading to global methy...

Background: Graves’ disease therapy in young children may be challenging due to lack of therapy options. The safety of Radioiodine Ablation (RIA) has not been proven in children under age of 10 years. Propylthioracil (PTU) therapy has been linked to hepatic failure and became contraindicated in pediatrics.The case: A 6-year-old female was diagnosed with Graves ‘disease and treated with Methimazole (MTZ) and Propranolol. A few days after startin...

Introduction: Most testis expressed (TEX) genes are testis-specific and evolutionarily conserved and several studies have reported important roles of TEX11, TEX12, TEX14, TEX15 and TEX 101 in mammalian fertility. Retrotransposons are thought to be critical for the evolution of mammalian genomes. TEX19 functions in the post-translational regulation of L1 retrotransposons, which are involved in maintaining trans-generational genome stability. In boys with crypto...

Introduction: Multiple studies have demonstrated that histone lysine methyltransferases regulate gene transcription, thereby influencing cell proliferation, cell differentiation, cell migration, and tissue invasion.Aim of the study: Here we describe the key functions of histone lysine methyltransferases and chromatin remodeling genes and summarize their role in infertility.Patients and Meth...

Introduction: In youth, primary ovarian insufficiency (POI) is due to genetic, autoimmune, iatrogenic, and idiopathic etiologies. When POI is diagnosed early with evidence of an ovarian reserve, fertility preservation can be offered. When the girl is premenarchal, the preferred fertility preservation method is ovarian tissue cryopreservation (OTC) containing primordial follicles. In the past, when OTC was performed in an unselected group of children and adoles...

Background: Detection of type 1 diabetes (T1D) at the pre-clinical stage is possible by detecting islet autoantibodies (IA) years before the appearance of symptomatic diabetes. An efficient screening program based on these antibodies will identify children at risk of developing diabetes during childhood. The antibody detection Israeli research (ADIR) is a general population screening program in Israel searching for children with multiple IA who are at risk of ...

Context: Non-classic congenital adrenal hyperplasia (NCCAH) diagnosed in childhood, whether treated or untreated, could pose an increased risk of obesity and metabolic derangements in adolescence and early adulthood. Both sustained hyperandrogenism and chronic glucocorticoid therapy may affect body composition. However, little is known about the body composition of subjects with NCCAH and its contribution to the development of adverse metabolic outcomes. <...

Context: Given the importance of sex hormones in metabolic regulation, dynamics in body composition and cardiometabolic alterations may occur in transgender persons receiving gender-affirming hormone (GAH) therapy.Objectives: Our aim was to explore the association between muscle-to-fat ratio (MFR) and the risk for metabolic syndrome components in transgender youth.Methods: In 71 tr...

Background: Type 1 diabetes (T1D) contributes to altered lipid profiles and increased cardiovascular disease (CVD) risk. Youth with T1D may have subclinical CVD within the first decade of diagnosis.Objective: To assess risk factors associated with dyslipidemia in young subjects with T1D.Study Design and Methods: A longitudinal and cross-sectional retrospective cohort study was cond...