ESPE Abstracts

The DHX37 gene has been identified to cause 46, XY disorders of sex development (DSD), yet there are no reports in China. Here, we report a Chinese pediatric case of 46, XY DSD identified by Whole-exome sequencing which carried a heterozygous missense mutation c.2020 C > T (P.R674 W) in DHX37 gene (NM _ 032656) inherited from the mother. Gonadal pathology showed that the left gonad was structured with a vas deferens and epididymal duct, and the right gonad had vas deferens,...

Background and Purpose: The prevalence of non-alcoholic fatty liver disease (NAFLD) in children has been increasing associated with insulin resistance. However, there is a scarcity of related studies in children with NAFLD with type 2 diabetes mellitus (T2DM) compared to adults. We conducted this study to investigate the association between non-invasive diagnostic methods of liver fibrosis and T2DM in pediatric patients with NAFLD.<stron...

Purpose: Vitamin D deficiency (VDD) is very common nowadays in children as well as in adults, probably due to decreased exposure to sunlight. COVID-19 pandemic resulted in school closure and decreased outdoor activity in children, which lead to lower chance for exposure to sunlight. It was reported that the higher level of visceral fat was associated with the lower vitamin D levels in children. The aim of this study is whether body mass index (BMI) affect seru...

Objective: The aim of this study was to detect potential gene mutation of Methylmalonic acidemia (MAA) in a Chinese patient.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A NGS panel include MUT,MMAA,MMAB,MMADHC and MCEE genes was identify the pathogenic mutation responsible for the MAA and verified by Sanger.Results: A...

Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...

Background: Silver Russell syndrome (SRS) is an imprinting defect disease.Objective: To study clinical characteristics and imprinting defects in Chinese children with SRS.Methods: Forty-nine SRS cases were studied retrospectively. Out of these 49 cases, 36 were available to be detected chromosome 11p15 imprinting defects and 21 cases were detected uniparental disomy of maternal chromosome 7 (UPD(7) mat).Resul...

Background: IGF1R gene mutation usually cause IUGR. The children born with IUGR were prone to some kinds of brain function disorders.Objective and hypotheses: The dysfunction of the brain was caused by the abnormal oligodendrocyte development.To establish lentivirus vector of IGF1R gene mutation (R709Q) and transfect oligodendrocyte precursors (Ge6). Observe the IRS/MAPK and PI3K/Akt/PKB signaling pathway and the change of proliferation, differentiation,...

Objective: To observe vaginal opening day (VOD), hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression level changes in neonatal rats exposure to different doses of bisphenol-A(BPA).Methods: Neonatal female SD rats were randomly divided into six groups: control group, vehicle group, 17β-estradiol group (17β-estradiol, E2,10 μg/kg per day), low-dose BPA group (25 μg/kg per day), medium-dose BPA group (50 μg/...

Thyroid cancer in children is not common but there is a tendency to increase requiring early suspicion and close monitoring of thyroid nodule. Papillary thyroid cancer (PTC) is the most common type of thyroid cancer and medullary thyroid cancer (MTC) is rare, MTC can be suspected if there is elevated calcitonin level. A 15-year-6-month-old girl was admitted for generalized tonic seizure with fever. Initial Brain MRI showed a small oval diffusion restriction lesion in the midli...

Objectives: Vitamin D deficiency is prevalent in pediatric population. Since low compliance may inhibit appropriate vitamin D supplementation in daily dosing regimen, intermittent high dose administration may be considered. We aimed to evaluate the efficacy and safety of monthly administration of oral cholecalciferol compared with daily dosing regimen in adolescents with vitamin D deficiency.Methods: This retrospective s...