hrp0082p3-d3-871 | Growth (4) | ESPE2014

The Causes of Short Stature in Turner Syndrome

Chen Ruimin , Zhang Ying , Yang Xiaohong , Lin Xiangquan , Yuan Xin

Background: Turner syndrome (TS) is due to complete or partial deletion of an X chromosome. The most common clinical features encountered in TS patients were short stature and primary amenorrhea.Objective and hypotheses: The purpose of this study was to investigate the causes of short stature in TS.Method: 86 patients with TS were diagnosed by karyotypes from 2004 to 2013, the karyotypes distribution were as follows: 64 patients wi...

hrp0097fc6.5 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Clinical characteristics of 213 children with early pubertal development complicated with pineal cyst

Yuan Shuxian , Lin Yifan , Zhao Yixuan , Chen Yongxing , Wei Haiyan

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...

hrp0097p1-50 | Fat, Metabolism and Obesity | ESPE2023

The Gut Microbiota Profile of Children with Prader–Willi Syndrome in China

Lu Wei , Yuan Xiaoxiao , Xu Zhenran , Pei Zhou , Luo Feihong

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder associated with hyperphagia, and excessive weight gain. Patients with PWS are at elevated risk of developing morbid obesity and associated life-threatening complications. Although gut microbiota has been suggested to play a role in disease phenotypes, little is known about its composition and how it relates to hyperphagia.Objective: The aim of this ...

hrp0097p1-164 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Insight into Gut Microbiota of Normal Body Mass Index Girls with Idiopathic Precocious Puberty

Lin Yifan , Fu Dongxia , Yuan Shuxian , Wei Haiyan

Key words: precocious puberty; idiopathic central precocious puberty; premature thelarche; gut microbiota; HPG axisBackground: The incidence of precocious puberty and obesity has increased significantly after the COVID-19 epidemic, and the specific cause is not clear. There seems to be a causal relationship between obesity and idiopathic central precocious puberty. A few studies have shown that the changes of gut microbi...

hrp0089p3-p190 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Clinical and Molecular Genetic Characterization of Two Patients due to Mutations

Ding Yu , Li Niu , Chang Guoying , Li Juan , Yao Ruen , Shen Yiping , Wang Jian , Huang Xiaodong , Wang Xiumin

Background: The Phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency was recognized to cause the congenital disorders of glycosylation (CDGs). PGM1 deficiency is a rare, autosomal recessive inherited disease which can cause the extreme variability of clinical symptoms multi-organ dysfunction, including ketotic hypoglycemia, dilated cardiomyopat...

hrp0089p2-p264 | Growth & Syndromes P2 | ESPE2018

Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive form Associated with LZTR1 Variants

Li Xin , Yao Ruen , Chen Yao , Chang Guoying , Ding Yu , Li Juan , Shen Yiping , Wang Xiumin , Wang Jian

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

hrp0097fc9.4 | Diabetes and insulin 2 | ESPE2023

The high proportion of INS-MODY in Chinese children with MODY

Ding Yu , Zhang Qianwen , Li Niu , Chang Guoying , Li Juan , Chen Yao , Yao Ru-en , Yu Tingting , Wang Xiumin

Background: The incidence rate of maturity onset diabetes of the young (MODY) and the proportion of different types of MODY will be different in different countries and races. GCK, HNF1A, and HNF4A are the three most common types of MODY, but the occurrence of other rare MODY subtypes in Chinese children is unknown. Therefore, studying the case group of MODY in Chinese children can help deepen understanding of MODY, early identification, and precise treatment....

hrp0097p1-134 | Multisystem Endocrine Disorders | ESPE2023

Molecular and Phenotypic Expansion of Bardet-biedl Syndrome in Chinese Patients

Gao Shiyang , Zhang Qianwen , Feng Biyun , Gu Shili , Yao Ru-en , Yu Tingting , Ding Yu , Wang Xiumin

Background: Bardet Biedl syndrome(BBS) is a type of non-motile ciliopathy primarily characterized by retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies and renal abnormalities. To date, 26 genes have been reported to be associated with BBS: BBS1-BBS21, IFT74, SCLT1, SCAPER and NPHP1. BBS is genetically heterogeneous with significant clinical overlap with other ciliopathies, further c...

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...

hrp0092rfc4.2 | Fat Metabolism and Obesity Session | ESPE2019

Circulating Exosomal miRNAs in Children's Nonalcoholic Steatohepatitis and the Correlation with Serum Transaminase and Uric Acid

Zhou Xuelian , Huang Ke , Ni Yan , Yuan Jinna , Liang Xinyi , Lin Hu , Dong Guanping , Fu Junfen

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) in children increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver (NAFL), once progress to nonalcoholic steatohepatitis (NASH), the risk of liver fibrosis and cirrhosis increase significantly. However, the pathogenesis of NAFLD, especially how NAFL progress to NASH is still unclear. Exosomal miRNAs have attracted att...