ESPE Abstracts

Background: Germline mutations in fibroblast growth factor receptor (FGFR) genes 1–3 can cause skeletal dysplasias such as achondroplasia (ACH), which is caused primarily by a G380R substitution in FGFR3. Infigratinib (BGJ398), a potent and selective FGFR1–3 tyrosine kinase inhibitor (TKI), demonstrated preclinical efficacy at low doses in an ACH mouse model. The objective of this analysis is to evaluate dose dependency and toxicity...

Background: The HPAT multi-disciplinary meeting (MDT) was set up in 2011 with the aim to improve collaboration with other hospitals treating children with rare paediatric suprasellar brain tumours. It is a monthly remote meeting conducted virtually.Objective: To evaluate the impact of COVID19 pandemic by comparing the number of meetings, cases (news/previously discussed), diagnosis, attendees, specialties, centres and ou...

Background: Previous studies have speculated that melatonin secreted by the pineal gland plays a role in the regulation of puberty, and pineal cyst may affect its secretory function, thus causing early pubertal development. However, there are few studies on early pubertal development with pineal cyst and its clinical features are not clear. This study aims to explore its clinical features and the relationship with cyst size to further improve the understanding...

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder associated with hyperphagia, and excessive weight gain. Patients with PWS are at elevated risk of developing morbid obesity and associated life-threatening complications. Although gut microbiota has been suggested to play a role in disease phenotypes, little is known about its composition and how it relates to hyperphagia.Objective: The aim of this ...

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...

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...

Background: Glycogen storage disease (GSD) is an inherited metabolic defect of metabolic defect of glycogenolysis and gluconeogenesis. Patients with GSDs are associated with endocrine abnormalities such as short stature, delayed puberty, fasting hypoglycemia, and dyslipidemia. In addition, patients with GSD 1b are also at risk of autoimmune hypothyroidism. Therefore, this study was performed to investigate endocrine complications in patients with GSD.<p cl...

Purpose: Patients with mixed gonadal dysgenesis (MGD) and ovotesticular disorders of sex development (DSD) usually present with asymmetric gonads. Differential diagnosis of these conditions is based on karyotype and pathological findings of gonads. However, it is difficult to determine sex of rearing and to predict long-term outcomes. This study investigated the clinical features, karyotype, sex of rearing, and pubertal outcomes of patients with MGD and ovotesticular DSD.<...