ESPE Abstracts

Objective: To explore the clinical manifestations and early identification of sitosterolemia.Methods: To summarize the clinical characteristics of the case and review literatures of sitosterolemia.Result: The child was an 11-year-old boy. The main complaint was that subcutaneous yellow nodules were found more than 1 years with blood cholesterol increased for 4 months. Two months ago, the patient ca...

Key words: KBG syndrome, ANKRD11, zebrafish, CRISPR/CasRx, Wnt signaling pathwayBackground: KBG syndrome (KBGS) is a rare condition caused by variant in ANKRD11 gene, which is characterized by intellectual disability, distinctive facial features, macrodontia of the upper central incisors, skeletal anomalies and short stature. Patients carrying loss-of-function ANKRD11 variants exhibit short stature due to defects of bone develop...

Background: Previous studies have speculated that melatonin secreted by the pineal gland plays a role in the regulation of puberty, and pineal cyst may affect its secretory function, thus causing early pubertal development. However, there are few studies on early pubertal development with pineal cyst and its clinical features are not clear. This study aims to explore its clinical features and the relationship with cyst size to further improve the understanding...

Purpose: Identify CYP21A2 gene variants in pediatric patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from Henan, China, and to analyze genotype-phenotype correlations. We also analyze the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype.Materials/Methods:A total of 214 21-OHD children were recruited in Henan children's hospital from 2008 to 202...

Purpose: The causes of obesity is so much that the pandemic spread the global. The inherited factors have a profound effect on body fat mass, as well as the environmental factors. Out of these, the foremost is genetic factors that tend to early childhood obesity. The consensus recommended that genetic testing is necessary for serious early onset obesity to identify the pathogenic genes of inherited obesity. In order to improve the positive rate of genetic test...

Objective: To investigate the feasibility of constructing a linear regression model to predict the remaining growth potential of adolescent boys based on the radiomics features of knee DR images and clinical characteristics.Methods: Twenty-four adolescent boys with normal growth and whose knee epiphyses had not yet closed were included in the study of anterior posterio DR images of the knee and the height at the time of ...

It is unknown whether the glucagon-like peptide-1 (GLP-1) receptor agonists have a significant protective effect against acute islet injury. This study investigated the protective effect and mechanism of liraglutide on acute islet injury induced by low doses of streptozotocin (STZ). The results showed that liraglutide pretreatment preserved the structural integrity of pancreatic islets, improved insulin levels and glucose tolerance, and significantly reduced the incidence of d...

Introduction: The EQ5D questionnaire is an openly available, validated, age-specific and generic measure of quality of life (QoL) which takes less than 5 minutes to complete. A higher dimension score and a lower visual analogue scale (VAS) is associated with worse QoL. Our aim was to use this tool to assess the QoL of patients with a wide range of paediatric endocrine conditions in the routine clinical setting.Methods: B...

Background: Floating-Harbor Syndrome (FHS) is a rare disorder characterized by facial dysmorphism, short stature, and delayed language development, among other clinical manifestations. In this case-cohort study, we aim ed to evaluate the clinical features and treatment outcomes of ten Chinese children diagnosed with FHS treated with recombinant human growth hormone (rhGH) or nutritional therapy.Methods: In this retrospec...

Objective: To report the clinical characteristics, diagnosis, treatment and genetic analysis of a case of X-linked acrogigantism(X-LAG).Methods: The clinical information of a 4-year-old girl due to “growth acceleration for 2.5 years, breast overflow for 3 months, accompanied by intermittent convulsions twice” was retrospectively reported, and peripheral blood DNA was collected for whole exome sequencing and e...