ESPE Abstracts

Key words: precocious puberty; idiopathic central precocious puberty; premature thelarche; gut microbiota; HPG axisBackground: The incidence of precocious puberty and obesity has increased significantly after the COVID-19 epidemic, and the specific cause is not clear. There seems to be a causal relationship between obesity and idiopathic central precocious puberty. A few studies have shown that the changes of gut microbi...

Background: Central precocious puberty (CPP) results from the premature pubertal activation of the hypothalamic-pituitary-gonadal axis before eight years for girls or nine years for boys. A systematic review and meta-analysis was conducted to evaluate the long-term efficacy and safety of leuprolide acetate (LA) 11.25mg 3-month formulation in children with CPP.Methods: A systematic search in PubMed and Embase was conducte...

Purpose: Identify CYP21A2 gene variants in pediatric patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from Henan, China, and to analyze genotype-phenotype correlations. We also analyze the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype.Materials/Methods:A total of 214 21-OHD children were recruited in Henan children's hospital from 2008 to 202...

Background: Single gene variants that give rise to neonatal diabetes mellitus (NDM), maturity onset diabetes of the young (MODY) and syndromic forms of diabetes mellitus (SDM) are responsible for 3.1-4.2% of all diabetes cases. Next generation sequencing techniques (NGS) are the game changer in terms of accurate diagnosis of monogenic diabetes (MD) which in turn allows the most appropriate treatment and the more precise prognostics. This single-center study wi...

Background: Emerging evidence suggests the presence of distinct endotypes of type 1 diabetes mellitus (T1DM): T1DE1 in individuals diagnosed at age <7 years in contrast to T1DE2 in those diagnosed at ≥13 years of age. We aimed to comprehensively explore the phenotypic heterogeneity of T1DM with respect to the age-related endotypes.Methods: This cross-sectional study was conducted in China involving 1,204 children n...

Background: Late-onset ornithine transcarbamylase deficiency (OTCD) is a clinical challenge due to its nonspecific symptoms and the potential for delayed treatment. Hyperammonemia caused by acute metabolism disorder leads to life-threatening encephalopathy. We presented a unique case of OTCD initially manifesting with hyperthyroidism, resulting in refractory hyperammonemia.Case report: A previously healthy 14-year-old Ch...

Several observational studies have reported vitamin D deficiency (VDD) in children with type 1 diabetes mellitus (T1DM). The investigation of VDD in children with new onset T1DM in China is lacking. The current study aimed to assess vitamin D status and examine the factors that influence VDD in children with new onset T1DM in Henan Province, China. Children with new onset T1DM (n=280) and healthy controls (n=710) were enrolled in Henan Province. Demographic a...

This study aim ed to screen pediatric patients with clinically diagnosed pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH) for genetic and epigenetic defects in GNAS and to assess their clinical features. A total 87 patients from 8 medical centers in China were included in this study, and 70 patients underwent analysis of GNAS by next-generation sequencing and methylation-specific multiple ligati...

Introduction: Idiopathic intracranial hypertension (IIH) is a rare neurological condition characterized by raised intracranial pressure (ICP) in the absence of hydrocephalus, brain parenchymal lesion, vascular malformation, or central nervous system (CNS) infection. Hyperthyroidism is a rare but known cause of raised ICP in children and adults, with only a few case reports in the paediatric population. We describe a 7-year-old boy with IIH associated with hype...

Background and Aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted interests as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus in mice. MOTS-c profiles have not yet been reported in type 1 diabetes (T1DM). We aimed to determine circulating MOTS-c levels in T1DM and explore the association between MOTS-c levels and various metabolic parameters.Metho...