hrp0095p2-233 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central precocious puberty in a girl with vasculitis-related moyamoya syndrome

Xie Dandan , Chen Qiuli , Ma Huamei , Jiang Bo , Li Yanhong , Zhang Jun , Guo Song , Zheng Rujiang , Chen Zhixin

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

hrp0092p1-182 | Diabetes and Insulin (1) | ESPE2019

The Influence of Excess Iron on Pancreatic Beta Cells

Zhang Lina , Hou Lele , Liu Zulin , Li Pinggan , Huang Siqi , Meng Zhe , Ou Hui , Jiang Zhuannan , Liang Liyang

Objective: To establish INS-1 cell iron overload model, and study the effect on iron overload, proliferation, insulin secretion, mitochondria defect and oxidative stress change.Methods: INS-1 cells were cultured with different concentrations (0 as control and 5, 10, 20, 40, 80,160,320µmol/L respectively) of ferric ammonium citrate (FAC). Labile iron pool (LIP) were calculated by detecting calcein-AM fluorescence ...

hrp0092p2-81 | Diabetes and Insulin | ESPE2019

A de novo Pathogenic Heterozygous Mutation of the Insulin Receptor gene in a Patient with type A Insulin Resistance Syndrome

Sun Manqing , Wang Wei , Lu Wenli , Zhang Lidan , Dong Zhiya , Xiao Yuan , Ma Xiaoyu , Ni Jihong , Wang Defen

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

hrp0092p3-241 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

46XY, DSD with Hemolytic Uremic Syndrome as the Primary Manifestation——Denys–Drash Syndrome Caused by WT1 Gene Mutation

zhang jun , guo song , chen qiuli , ma huamei , li yanhong , chen hongshan , du minlian , cheng cheng , ye minyi

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

hrp0089p3-p107 | Diabetes &amp; Insulin P3 | ESPE2018

The Value of Continuous Hemodiafiltration in Rescuing Children with Severe Diabetic Ketoacidosis

Chen Lin QI , Zhang Dan Dan , Wu Hai Ying , Chen Ting , Chen Xiu Li , Wang Feng Yun , Xie Rong Rong

Objective: To explore the value of continuous hemodiafiltration in rescuing children with severe diabetic ketoacidosis.Method: Two children with severe diabetic ketoacidosis were studied in regard to clinical manifestation, laboratory examination and treatment and of the relevant literature was reviewed.Result: Case 1 was a girl of 13 years 5 months old, who was diagnosed as ‘Type 1 diabetes mellitus, Diabetic ketoacidosis and...

hrp0089p3-p272 | Multisystem Endocrine Disorders P3 | ESPE2018

Two Cases of Costello Syndrome and Literatures Review

Zhuan-Nan Jiang , Le-le Hou , Zu-lin Liu , Hui Ou , Zhe Meng , Li-na Zhang , Li-yang Liang

Objective: To investigate the clinical features and genetic characteristics of HRAS-associated Costello Syndrome.Method: Characteristics of clinical data and gene mutation of two cases Costello Syndrome in XX hospital were retrospectively analyzed. The related literature was searched by using search terms ‘HRAS’ or ‘Costello Syndrome’.Result: Both patients were presented with mental retardation, growth retardati...

hrp0086rfc11.2 | Thyroid | ESPE2016

The Incidence and Genetic Analysis of Congenital Hypothyroidism in Guangxi, China and the Predictors for Differentiating Permanent and Transient Congenital Hypothyroidism

Fu Chunyun , Chen Shaoke , Zheng Haiyang , Luo Shiyu , Zhang Shujie , Shen Yiping , Gu Xuefan , Fan Xin , Luo Jingsi

Background: The incidence of congnenital hypothyroidism (CH) differs significantly among different ethnicity and regions, and early differentiation of transient CH is important to avoid unnecessary prolonged treatment with L-T4, it is also helpful for predicting prognosis and alleviating families’ psychological burden.Objective and hypotheses: To investigate the incidence of CH based on the newborn screening program in Guangxi Zhuang Autonomous Regi...

hrp0082p2-d2-427 | Growth Hormone (1) | ESPE2014

Effects and Safety of Recombinant Human GH in GH Deficient Children with Rathke Cyst

Liang Liyang , Zhang Lina , Meng Zhe , Ou Hui , He Zhanwen , Hou Lele , Li Dongfang , Li Pinggan , Luo Xiangyang

Objective: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) children with Rathke cyst.Methods: The clinical data of 12 GHD children aged from 5–12 years old, whose radiologic diagnosis showed Rathke cyst during Jan 2010–Dec 2012 in our hospital, were analyzed retrospectively. rhGH was given subcutaneously to each enrolled child with a night dose of 0.1 IU/kg six to seven times a week for 12–30 months. T...

hrp0084p2-455 | Growth | ESPE2015

Effect of Aromatase Inhibitor Treatment During Adolescence on the Final Adult Height in Males with Idiopathic Short Stature

Yan-hong Li , Min-lian Du , Hua-mei Ma , Hong-shan Chen , Qiu-li Chen , Jun Zhang

Background: Aromatase inhibitors (AIS) can block the conversion of androgens to estrogens, thus can be used to delay bone maturation in males, however, the effect on improvement of final adult height (FAH) is still controversial.Objective and hypotheses: A prospective study was performed to evaluate the effect of letrozole used on the FAH in males with idiopathic short stature (ISS).Method: 55 boys with ISS and had entered puberty ...

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 ...