hrp0097rfc3.5 | Fat, metabolism and obesity 1 | ESPE2023

Multi-omics Reveals molecule target Underlying Adolescent obesity with metabolic syndrome

Yang Yu , Huang Hui , Yang Li , Xie Liling , Zhang Dongguang , Xu Lei , Chen Ka , Shuai Xia , Xiong Xiangyu

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...

hrp0092p2-27 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

The First Case Report of SEMD-JL1 in China

Huang Ke , Zhang Jianwei , Dong Guanpin

Background: Spondyloepimetaphyseal dysplasia with joint laxity type 1(SEMD-JL1) is a rare entity with a recessive inheritance. It is one of the genetic skeletal disorders (GSD) and B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from several families. However, there was no case described in China.Case report: An 8-year-old boy presented to our hospital with short stature, hyperlaxity w...

hrp0094p2-379 | Pituitary, neuroendocrinology and puberty | ESPE2021

An Observational, Retrospective Study to Evaluate Long Term Safety and Effectiveness of Leuprorelin in the Treatment of Central Precocious Puberty

Fu Junfen , Dong Guanping , Li Pin , Gong Yan , Yang Yu , Yang Li , Gu Wei , Yuan Xuewen , Luo Xiaoping , Hou Ling , Zhong Yan , You Cheng , Wang Winston , Guo Ziheng ,

Objectives: To describe safety and effectiveness of high (≥90-180 µg/kg) and low (<90-30 µg/kg) dose leuprorelin in treating central precocious puberty (CPP).Methods: In this observational, retrospective study, effectiveness was evaluated based on regression or no progression of Tanner staging as the primary outcomes. LH, FSH, estradiol or testosterone suppression, and decrease in bone age to chronolo...

hrp0098fc10.5 | Multisystem Endocrine Disorders | ESPE2024

Using sno-lncRNAs as potential markers for Prader-Willi syndrome diagnosis

Zou Chaochun , Sun Jiu-Ru , Yang Liang-Zhong , Dai Yang-Li , Wu Huang , Li Siqi , Xu Yifeng , Huang Youkui , Wu Hao , Shen Zheng , Chen Ling-Ling

The genetic disorder Prader-Willi syndrome (PWS) is mainly caused by the loss of multiple paternally expressed genes in chromosome 15q11-q13 (the PWS region). Early diagnosis of PWS is essential for timely treatment, leading to effectively easing some clinical symptoms. Molecular approaches for PWS diagnosis at the DNA level are available, but the diagnosis of PWS at the RNA level has been limited. Here, we show that a cluster of paternally transcribed snoRNA-ended long noncod...

hrp0098p1-11 | Bone, Growth Plate and Mineral Metabolism 1 | ESPE2024

Clinical and genetic characteristics of primary hypoparathyroidism in children a multicenter experience in China

Shen Yingxiao , Yang Wei , He Qin , Xu Xiaoqin , Sun Yan , Wang Zhihua , Yang Xiaohong , Dong Guanping , Huang Ke , Wei Haiyan , Wu Wei , Fu Junfen

This study was aimed to analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from five medical centers in China. We performed a multicenter retrospective analysis of 74 patients diagnosed with pediatric primary hypoparathyroidism from 2014 to 2023 recruited in five medical centers across China. Data of basic information and clinical tests were extracted from patients’ records. WES, MLPA and CMA were utilized to identify the genetic c...

hrp0098p2-161 | Growth and Syndromes | ESPE2024

Long-Term Effects of Estrogen and Growth Hormone Replacement on Mortality and Comorbidities in Turner Syndrome

Chen Jo-Ching , Chen Shao-Chia , Huang Jing-Yang , Yang Shun-Fa , Wang Chung-Hsing , Huang Yu‐Nan , Su Pen-Hua

Background: Turner syndrome (TS) is a chromosomal disorder characterized by ovarian dysgenesis, short stature, and other congenital abnormalities. This condition arises from a complete or partial loss of one X chromosome in females, often leading to delayed diagnosis and thus missing critical opportunities for timely treatment. Estrogen Replacement Therapy (ERT) and Growth Hormone Replacement Therapy (GHRT) are standard treatments, yet their long-term impacts ...

hrp0095p1-117 | Growth and Syndromes | ESPE2022

The elevated levels of Fetuin-A and FGF21 are correlated with metabolic indicators in Turner syndrome

Yao Qian , Chen Ruimin , Yuan Xin , Zhang Ying , Shangguan Huakun , Lin Xiangquan , Yang Xiaohong

Objective: To find the roles of Fetuin-A and FGF21 in metabolic disorders through investigating the correlations between Fetuin-A, FGF21 with metabolic indicators in girls with Turner syndrome (TS).Methods: A cross-sectional study of TS girls ranging from 5 to18 years and age-, body mass index (BMI)- matched healthy girls were recruited from the outpatients in Fuzhou Children’s Hospital of Fujian Medical University...

hrp0095p2-314 | Late Breaking | ESPE2022

A case of permanent congenital hypothyroidism with NKX2-1 mutation and optic nerve thickness

Yang Jaejin , Yeong Chung Woo , Hwan Oh Seung , Hun Seo Go , Rye Kim Jeong , Yu eesuk

Congenital hypothyroidism can be caused by the wrong formation of the thyroid gland or the defect in the synthesis of thyroid hormone. Among the candidate genes, defect in the gene NKX2-1 can be presented as thyroid, lung, or brain dysfunction. An eight-year-old boy was diagnosed as congenital hypothyroidism at the age of 16 days. He was referred to our Pediatric Endocrinology Clinic due to elevated TSH level (36.28uIU/mL). Serum total T3 and free T4 were 125 ng/dL an...

hrp0092p1-75 | GH and IGFs | ESPE2019

Impact of -202 IGFBP-3 Promoter Polymorphism on Growth Responses in Korean Children with Idiopathic Short Stature

Hwang II Tae , Yi Kyung Hee , Kim Eun Young , Yang Seung

Purpose: Our previous study showed no correlation between -202 A/C IGFBP-3 promoter polymorphism and Δheight SDS in children with growth hormone deficiency. We investigated the influences of the -202 IGFBP-3 polymorphism on 1-year follow-up outcomes of GH treatment in Korean children with ISS.Methods: Data was obtained from 81 children with idiopathic short stature (peak serum growth hormone (GH) ≥ 7.0 ng/mL b...

hrp0092p1-174 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

The Optimal Dosage of Vitamin D Supplement for Vitamin D deficiency in Korean Children and Adolescents

Yang Seung , Hee Yi Kyung , Kim Eun Young , Hwang Il Tae

Purpose: Vitamin D deficiency (VDD) is very common nowadays in children as well as in adults, probably due to decreased exposure to sunlight. In Korea, the prevalence of VDD was 47% in teenage boys and 65% in teenage girls. However, the optimal dosage regimen for correcting deficiency is unknown. We investigate the change of serum 25(OH) vitamin D concentration according to the treatment dosage and duration in VDD.Methods...