hrp0082p3-d3-946 | Puberty and Neuroendocrinology (1) | ESPE2014

Impact of Bisphenol-A on the Puberty of Female Rats

Linqi Chen , Fan Yang , Meifang Jin , Haiying Wu

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD) hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression ...

hrp0092p3-208 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Early Predictors of Serum IGF-1, DHEAS, AMH and BMP-6 in Rapidly Progressive Puberty Girls

Chen LinQi , Zhang Dandan , Wang Xiaoyan , Xie Rongrong , Wu Haiying

Objective: To investigate the early predictors of serum IGF-1, DHEAS, AMH and BMP-6 in rapidly progressive puberty girls.Methods: 750 cases of central precocious puberty(CPP), early puberty(EP) and rapidly progressive puberty(RPP) in Children's hospital of Soochow university were recruited from August 2017 to December 2018. After follow-up six months to one year, 138 girls were divided into CPP(n=32), EP...

hrp0086rfc12.6 | Neuroendocrinology | ESPE2016

Serum Antimüllerian Hormone and Inhibin B as Potential Markers for Progressive Central Precocious Puberty in Girls

Chen Ting , Chen Linqi , Wu Haiying , Xie Rongrong , Chen Xiuli

Background: Anti-Müllerian hormone (AMH) and inhibin B (INHB) are two hormones investigated as markers of ovarian reserve in female. serum AMH and INHB levels change through the progression of puberty, and might be markers for identifying pubertal progression rate in girls.Objective and hypotheses: To invetigate serum AMH and INHB levels as markers of pubertal progression rate in girls with central precocious puberty (CPP).Met...

hrp0082p2-d1-535 | Puberty and Neuroendocrinology | ESPE2014

Correlation Research of Bisphenol A and Premature Thelarche in 6 Months to 2 Years Old Infant Girls

Wu Haiying , Chen Linqi , He Guangzhao , Wang Weipeng

Background: Now in many causes of precocious puberty, thinking of environmental endocrine disruptors (EDCs) is one of the causes. Bisphenol A (BPA), as a kind of environmental endocrine disruptors, can interfere with normal endocrine activities. But up to now, there is few reports of the influence of BPA in premature thelarche (PT) of below 2 years girls.Objective and hypotheses: To investigate the association between BPA and premature thelarche in 6 mon...

hrp0094p1-141 | Sex Endocrinology and Gonads B | ESPE2021

Screening of serum differential proteins in girls with rapidly progressing central precocious puberty with TMT quantitative proteomics

Xie Rongrong , Zhang Dandan , Wu Haiying , Wang Fengyun , Chen Xiuli , Chen Ting , Sun Hui , Wang Xiaoyan , Song Mengjia , Chen Linqi

Objective: To screen and identify serum differentially expressed proteins in girls with rapidly progressing central precocious puberty and healthy girls by proteomics. Methods: 15 idiopathic central precocious puberty girls and 15 healthy children were admitted to the Children’s Hospital of Suzhou University from August 2017 to October 2018.After mixing in the group, the high-abundance protein was removed and quantified ...

hrp0092rfc12.4 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

NIPBL is Required for Postnatal Growth and Neural Development

zou chaochun , wu xiaohui

Cornelia de Lange syndrome (CdLS) is a multisystem organ developmental disorder characterized by growth and cognitive deficits and premature aging, caused by mutations in genes coding for the cohesin complex. CdLS cells presented with gene expression dysregulation, genomic instability, decreased energy production and oxidative stress. Variants in the cohesin loading factor Nipped-B-like (NIPBL) gene can be identified in approximately 70% of cases and the ...

hrp0089p3-p264 | Growth & Syndromes P3 | ESPE2018

Congenital Tufting Enteropathy Caused by Mutation of EPCAM Gene: A Case Report and Review of Literature

Chuanjie Yuan , Jing Wu

Objective: To explore the clinical characteristics of diagnosis and treatment in patients with congenital tufting enteropathy.Method: A rare case of congenital tufting enteropathy was diagnosed at West China Second University Hospital, Sichuan University in July 2016, the clinical data of congenital tufting enteropathy was analyzed retrospectively, and the related literature were reviewed. Original papers on congenital tufting enteropathy published until...

hrp0089p2-p194 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Molecular Defects Identified by Whole Exome Sequencing in a Chinese Boy with Fructose-1,6-Bisphosphatase Deficiency

Huang Zhuo , Wu Jin , Xiang Chengfa

Backgroud: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inherited disorder of gluconeogenesis, which caused by the mutations in the FBP1 gene. FBPase deficiency is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis. If diagnosed early, the prognosis of this disorder is excellent by the prevention of hypoglycemia and avoidance of intake of fructose and sucrose. However, the misdiagnosis of FBPase defi...

hrp0082p1-d2-155 | Growth (1) | ESPE2014

Clinical Characteristics and Imprinting Analysis of Chinese Silver Russell Syndrome

Wu Di , Gong Chunxiu , Zhao Yang

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...

hrp0082p2-d3-401 | Fat Metabolism & Obesity (2) | ESPE2014

Mannose Binding Lectin and Carotid Intima–Media Thickness in Chinese Obese Children

Wu Wei , Cheng Liqing , Fu Junfen

Background: Mannose binding lectin (MBL) is an important innate immune molecule and is previously found to be related to artery damage in some diseases as SLE rheumatoid arthritis and severe atherosclerosis. However, its role in artery change is still contradictory according to different studies. We found the carotid intima–media thickness (CIMT) increased in obese children which indicated an early change of atherosclerosis.Objective and hypotheses:...