ESPE Abstracts

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...

Objective: This study was to measure quality of life (QOL) of the primary caregivers for young children with Prader-Willi syndrome (PWS).Methods: The children with PWS consisted of 32 children. The QOL of the caregiver for each patient was assessed using the Chinese version of the WHOQOL-BREF, and the Infants-Junior Middle School Students' Social-Life Abilities Scale was used to evaluate the social adaption capacity ...

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

Objective: This paper is aimed to explore the significance of plasma kisspeptin level in diagnosis and therapeutic evaluation through the detection of kisspeption level of girls diagnosed with idiopathic central precocious puberty (ICPP) before treatment and after 6-months of treatment and girls with simple premature thelarche (PT).Methods: A total of 70 girls including 24 girls diagnosed with ICPP, 21 girls with PT and 25 normal girls were enrolled. ELI...

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

Background: The incidence of obesity, especially in children, have dramatically increased over the last few decades. Recently, studies highlighted the involvement of gut microbiota in the pathophysiology of obesity. Gender-related differences have been reported in animal and adult. Nonetheless, reports related on the features of gut microbiota in children with obesity is limited and no one reported the different composition of gut microbiota at different sex o...