ESPE Abstracts

Objective: Type E brachydactyly (BDE) is characterized by shortening of the metacarpal/metatarsal bones, with the phalanges also potentially affected. This study analyzes the clinical features and genotype-phenotype correlations of BDE in children.Methods: This study selected 135 patients with BDE who visited the Children's Hospital affiliated with Soochow University from June 2021 to December 2023 and completed a b...

Objective: Hypophosphatasia (HPP) is a monogenic metabolic bone disease characterized by skeletal and dental mineralization disorders and paradoxically low serum alkaline phosphatase (ALP) activity. The pathogenic gene for HPP is ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). The purpose of this study is to determine the prevalence of HPP among the population in Suzhou and explore the genotypic spectrum of ALPL gene in ...

Objective: To investigate the early predictors of serum IGF-1, DHEAS, AMH and BMP-6 in rapidly progressive puberty girls.Methods: 750 cases of central precocious puberty(CPP), early puberty(EP) and rapidly progressive puberty(RPP) in Children's hospital of Soochow university were recruited from August 2017 to December 2018. After follow-up six months to one year, 138 girls were divided into CPP(n=32), EP...

Objective: To screen and identify serum differentially expressed proteins in girls with rapidly progressing central precocious puberty and healthy girls by proteomics. Methods: 15 idiopathic central precocious puberty girls and 15 healthy children were admitted to the Children’s Hospital of Suzhou University from August 2017 to October 2018.After mixing in the group, the high-abundance protein was removed and quantified ...

Antibodies to GAD-65 have been associated to type 1 diabetes and different neurological disorders, however these diseases rarely occur concurrently. In this report, we present a rare pediatric case of concurrent GAD-65 antibody positive autoimmune encephalitis and type III autoimmune polyendocrine syndrome (coexisting with autoimmune thyroid disease and type 1 DM). A 7-year-old Chinese female patient presented with a 2-month history of idiopathic seizures. Laboratory tests rev...