ESPE Abstracts

Background: The incidence rate of maturity onset diabetes of the young (MODY) and the proportion of different types of MODY will be different in different countries and races. GCK, HNF1A, and HNF4A are the three most common types of MODY, but the occurrence of other rare MODY subtypes in Chinese children is unknown. Therefore, studying the case group of MODY in Chinese children can help deepen understanding of MODY, early identification, and precise treatment....

Objective: The onset of obesity complicated with metabolic syndrome in children and adolescents is hidden, the mechanism is unknown, and early warning indicators are lacking clinically. This study conducted multi-omics research on children and adolescents with simple obesity and obesity complicated with metabolic syndrome to provide early clinical diagnosis and drug treatment targets for its occurrence and development mechanism.M...

Background: Bardet Biedl syndrome(BBS) is a type of non-motile ciliopathy primarily characterized by retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies and renal abnormalities. To date, 26 genes have been reported to be associated with BBS: BBS1-BBS21, IFT74, SCLT1, SCAPER and NPHP1. BBS is genetically heterogeneous with significant clinical overlap with other ciliopathies, further c...

Background: CPP is commonly treated with triptorelin, a gonadotropin-releasing hormone (GnRH) analogue. It is available as 1-month and 3-month prolonged-release (PR) formulations, but only the former is approved for CPP in China. Overseas studies have proved the efficacy and safety of triptorelin 3-month PR formulation; this study evaluated efficacy and safety in Chinese children with CPP.Methods: In this 12-month, open-...

Objective: To explore the long-term effect of adjuvant treatment vin classic CAH 21OHD.Methods: Clinical datas of 21OHD children with impaired growth potential (HtSDSBA<-2) from the endocrinology clinics at the First Affiliated Hospital of Sun Yat-Sen University from January 1990 to February 2023 were included. Patients with adjuvant treatment were divided into different groups according to bone age (BA) an...

Objective: To summarize the prevalence of compromised linear growth in 21OHD and its final adult height (FAH).Methods: Clinical data of children with CAH 21OHD from pediatric endocrinology clinics at the First Affiliated Hospital of Sun Yat-Sen University from January 1990 to February 2023 were included. The prevalence and types of compromised linear growth in 21OHD and related factors were discussed. FAH and its related...

Objective: This study aim ed to report four Chinese patients due to FBN1 mutations including one with geleophysic dysplasia (GD) and three with acromicric dysplasia (AD), and analyze the clinical and genetic features of all Chinese patients.Methods: The clinical features, laboratory tests and gene mutations of four Chinese patients with GD and AD were reported, and literatures were reviewed to analyze the clinic...

Introduction: This review aims to chronologically summarize MRI findings in children with GHD, correlating these changes with clinical characteristics and GH testing results, and IGF-1 levels.Methods: We reviewed MRI studies conducted from 1991 to 2024, focusing on structural and functional brain changes in children with GHD. Data were extracted from various studies and arranged chronologically.<st...

This review summarizes the prevalence and degree of functional brain changes detected by fMRI in Growth Hormone Deficiency (GHD) patients and their clinical associations in studies from 2019 to 2024Results: Author Year Prevalence of F...

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...