ESPE Abstracts

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We ...

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 was aimed to analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from five medical centers in China. We performed a multicenter retrospective analysis of 74 patients diagnosed with pediatric primary hypoparathyroidism from 2014 to 2023 recruited in five medical centers across China. Data of basic information and clinical tests were extracted from patients’ records. WES, MLPA and CMA were utilized to identify the genetic c...

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...