ESPE Abstracts

Purpose: This study aims to investigate the effect of GnRHa on GH-IGF-1 axis and to evaluate if −202 A/C IGFBP-3 promoter polymorphism affects the growth velocity during treatment on girls with central precocious puberty (CPP).Methods: Data was collected from 97 girls, diagnosed under 9 year of age and treated by GnRHa for at least 1 year in Kangdong Sacred Heart Hospital between 2014–2015. Their body height, weight, Δ Height standard dev...

Background: Turner syndrome (TS) is due to complete or partial deletion of an X chromosome. The most common clinical features encountered in TS patients were short stature and primary amenorrhea.Objective and hypotheses: The purpose of this study was to investigate the causes of short stature in TS.Method: 86 patients with TS were diagnosed by karyotypes from 2004 to 2013, the karyotypes distribution were as follows: 64 patients wi...

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD) hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression ...

Background: Studies about the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in Chinese children are less.Objective and hypotheses: Study the genotypes of Chinese probands with salt-wasting form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed pedigree-based linkage analysis.Method: We have performed genetic-testing (Method...

Background: Nearly half of SRS epigenetic etiology is unknown. Effect of GH in SRS is not exact.Objective: To determine novel gene or imprinted gene associated with pathogenicity of Silver–Russell syndrome (SRS) through detection genome-wide methylation differences. To observe GH efficacy in SRS and the relationship between GH and epigenetic changes.Method: To detect genome-wide methylation site through the Illumina 450K methy...

Objective: To recognize Schimke immune-osseous dysplasia from a case of spinal epiphyseal dysplasia.Method: Summarize the characteristics of one case of Schimke immune-ossesous dysplasia, and increase awareness of this disease.Result: The patient, male, with non-consanguineous parents, was born on May 8, 2012. He was hospitalized in our hospital in January 2020 due to his short stature for more tha...

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...

It is unknown whether the glucagon-like peptide-1 (GLP-1) receptor agonists have a significant protective effect against acute islet injury. This study investigated the protective effect and mechanism of liraglutide on acute islet injury induced by low doses of streptozotocin (STZ). The results showed that liraglutide pretreatment preserved the structural integrity of pancreatic islets, improved insulin levels and glucose tolerance, and significantly reduced the incidence of d...

The genotype-phenotype relationship in PWS patients is important for a better understanding of the clinical phenotype and clinical characteristics of different genotypes of PWS in children. We aimed to explore the influence of specific gene changes on the clinical symptoms of PWS and the value of early screening and early intervention of the condition. All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected informat...

Background: Floating-Harbor Syndrome (FHS) is a rare disorder characterized by facial dysmorphism, short stature, and delayed language development, among other clinical manifestations. In this case-cohort study, we aim ed to evaluate the clinical features and treatment outcomes of ten Chinese children diagnosed with FHS treated with recombinant human growth hormone (rhGH) or nutritional therapy.Methods: In this retrospec...