ESPE Abstracts

Introduction: Alstrom syndrome, inherited in autosomal-recessive manner, is a complex multi-system disease including obesity, sensorineural hearing loss, retinal dystrophy, cardiomyopathy, type 2 diabetes mellitus, and multiple organ fibrosis. ALMS1 is the defective protein of Alstrom syndrome. The protein is located in the basal body of the primary cilia and involved in ciliary function. Large cohorts of Alstrom syndrome lack around the world, especially in E...

Background: Noonan syndrome (NS) is a common autosomal dominant/recessive disorder. No large-scale study has been conducted on NS in China, which is the most populous country in the world.Methods: Next-generation sequencing (NGS) was used to identify pathogenic variants in patients that exhibited NS-related phenotypes. We assessed the facial features and clinical manifestations of patients with pathogenic or likely patho...

Objective: Studies on 5α-reductase type 2 deficiency (5α-RD) are limited and the genotype-phenotype correlation has not been elucidated. The aim of the study was to analyze clinical and molecular characteristics, genotype-phenotype correlation in a large Chinese 5α-RD cohort.Design: Database registration study.Method: We analyzed clinical and genetic data of gene con...

Object: To assess the efficacy and impact factors of treatment with GnRHa alone or in combination with rhGH in idiopathic central precocious puberty (CPP) or early and fast puberty (EFP) in Chinese girls.Methods: We conducted a retrospective analysis on 20 years of data obtained from 11 medical centers from January 1998 to March 2017, and 393 girls with CPP (n=302) or EFP (n=91), who untreated or received GnRHa alone or in Combination w...

Background: Congenital hypothyroidism (CH) is a common endocrine disorder with a prevalence ranging from 1:2000 to 1:4000 newborns. The majority of CH cases were reported to be associated with mutations in several genes, which including the TSH receptor gene (TSHR).Objective and hypotheses: The aim of this study is to examine the frequency of TSHR gene mutations among CH patients in the Guangxi Zhuang Autonomous Region of China and to discover correlatio...

Objective: The aim here was to describe the characteristics of obese children and adolescents and to determine how the prevalence of comorbidities differed over 10 years in China.Methods: Obese children and adolescents were enrolled from Department of Endocrinology, Children’s Hospital of Zhejiang University School of Medicine in Hangzhou (Zhejiang Province, China). Eligibility was defined by a body mass index ...

Background: Central precocious puberty is defined by the onset of breast development before the age of 8 year in girls. Approximately 90% of girls have an idiopathic formwithoutstructural central nervous system (CNS) abnormality. It is controversial that all girl with central precocious puberty (CPP) should undergo brain magnetic resonance imaging (MRI) for intracranial pathology.To evaluate the outcome of brain MRI in girls with CPP and to identify the cl...

Background: Turner syndrome (TS) is caused by complete or partial of the second sex chromosome and characterized bygrowth failure, primary ovarian failure, the constellation of the lymphedema sequence, characteristic facial features, left-sided cardiac anomalies, renal anomaly, and skeletal anomalies. Among all of the associated traits, cardiovascular abnormalities are common in TS and an important cause of early mortality. Hence, our aim is to investigate the...

Background: Mannose binding lectin (MBL) is an important innate immune molecule and is previously found to be related to artery damage in some diseases as SLE rheumatoid arthritis and severe atherosclerosis. However, its role in artery change is still contradictory according to different studies. We found the carotid intima–media thickness (CIMT) increased in obese children which indicated an early change of atherosclerosis.Objective and hypotheses:...

Background: Cardiovascular disease is one of the most prominent causes of mortality world widely. A key related factor of atherosclerotic cardiovascular disease is the presence of dyslipidemia. Together with elevated blood pressure, obesity, and diabetes mellitus, dyslipidemia is a component of metabolic syndrome and associated with an increasing incidence of coronary heart disease.Objective and hypotheses: The aim of this study was to investigate the co...