ESPE Abstracts

Background and Purpose: Nutritional obesity is a significant health issue worldwide, and severe obesity can lead to obesity hypoventilation syndrome (OHS). However, previous studies have mainly focused on changes of mechanical respiratory function without in-depth study on damage of lung epithelial cells. This study investigates the molecular mechanism underlying obese hypoventilation.Methods: C57BL/6 mice were used to c...

Ulnar-mammary syndrome (UMS) is caused by TBX3 mutation and is a disorder characterized by altered limb, breast, tooth, hair, apocrine gland, and genital development. The detailed genotype-phenotype correlation of TBX3 -related diseases was analysed by the 5.5th UMS case analysis, and all reported cases of UMS were summarized and discussed.Methods: The clinical and genetic data of a boy with UMS were carefully analysed....

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...