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...

Background: In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP- channel function, sulphonylureas improve long-term glycaemic control. Although KATP channels are extensively expressed in the brain, the effect of sulphonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulphonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of short stature. Diagnosis is based on low basal IGF1 concentration, short stature, normal or elevated growth hormone concentrations and absence of any secondary causes of growth failure. Thanks to advances in next-generation sequencing (NGS) technologies, genetic etiology of SPIGF1D is expanding.Objectives: • Identify th...

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...

Hypochondroplasia (HCH) is a skeletal dysplasia, mainly caused by mutations in the fibroblast growth factor receptor3 (FGFR3) gene and characterized by disproportionate short stature.Our main was to determine the efficacy of growth hormone therapy in children with HCH, compared with a historical cohort of 40 untreated children with HCH.Diagnosis of subjects was confirmed by the Bone Dysplasia Center2. Height standard dev...

Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,500 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 polygenic inherited variants,. As this l...