hrp0092p2-294 | Thyroid | ESPE2019

A New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA/TRa1

Chen Linqi , Sun Hui , Chen Xiuli , Chen Ting

The action of Thyroid hormone (T3) is mediated by the binding to nuclear receptors (TRa1, TRα1/2), which are ligand dependent transcription factors, encoded by the THRA and THRB genes. THRA germline mutations cause a rare genetic disease called resistance to thyroid hormone α (RTHα) first reported in 2012 . Only 20 missense and frameshift mutations have been reported to date, From this small group of patients, and analysis of animal models, it emerges that the d...

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 ...

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...

hrp0098rfc10.5 | Multisystem Endocrine Disorders | ESPE2024

GAD-65 antibody positive autoimmune encephalitis with type III autoimmune polyendocrine syndrome: a rare pediatric case report

Xie Rongrong , Chen Linqi , Wu Haiying , Zhang Dandan , Chen Xiuli , Wang Fengyun , Sun Hui , Cheng Ting , Wang Manli , Zhang Liya , Tang Jihong

Antibodies to GAD-65 have been associated to type 1 diabetes and different neurological disorders, however these diseases rarely occur concurrently. In this report, we present a rare pediatric case of concurrent GAD-65 antibody positive autoimmune encephalitis and type III autoimmune polyendocrine syndrome (coexisting with autoimmune thyroid disease and type 1 DM). A 7-year-old Chinese female patient presented with a 2-month history of idiopathic seizures. Laboratory tests rev...