hrp0092p1-4 | Adrenals and HPA Axis | ESPE2019

The Steroidal Milieu in Amniotic Fluid of Mid-Gestation: A Targeted GC-MS Metabolomics Study

Wang Rong , Hartmann Micheala , Tiosano Dov , Wudy Stefan A.

Intact steroid hormone biosynthesis is essential for growth and development of the human fetus and embryo. In the present study, gas chromatography-mass spectrometry was employed to characterize the steroidal milieu in amniotic fluid (n=65; male: female = 35: 30) of mid-gestation (median: 18.8th week, range: 16.0th – 24.6th week) by a comprehensive targeted steroid hormone metabolomics approach. The levels of 52 steroids i...

hrp0092p1-278 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

A Novel MAP3K1 Gene Mutation (c.556A>G) Associated with 46, XY Complete Gonadal Dysgenesis

Zhu Yilin , Chen Hong , He Minfei , Liang Li , Wang Chunlin

Introduction: Complex and ordered intracellular signal pathways play a significant role in sex determination in mammals, mediating the balance of gonadal development. A major pathway involved in the regulation of the male development is mitogen-activated protein kinase (MAPK) signaling pathway. To date, mutations of MAP3K1 gene have been found to account for approximately 15%-20% of 46, XY gonadal dysgenesis (46, XY GD)....

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...

hrp0089p1-p011 | Adrenals and HPA Axis P1 | ESPE2018

Characterizing the Steroidome in Ammniotic Fluid of Mid-gestation by LC-MS/MS

Wang Rong , Tiosano Dov , Hartmann Michaela F , Wudy Stefan A

The amniotic fluid (AF) milieu is complex and essential to fetal well-being. Here we present a new LC-MS/MS method for the targeted metabolomics analysis of 20 unconjugated and conjugated steroids in 65 AF samples during mid-gestation. Sample preparation included protein precipitation, centrifugation, solid phase extraction and derivatization. We measured progesterone (Prog), 17α-hydroxyprogesterone (17OHProg), testosterone (T), estrone (E1), estradiol (E2), estriol (E3),...

hrp0089p1-p078 | Diabetes & Insulin P1 | ESPE2018

Efficacy of Autologous Hematopoietic Stem Cell Transplantation in the Treatment of Childhood Type 1 Diabetesefficacy of Autologous Hematopoietic Stem Cell Transplantation in the Treatment of Childhood Type 1 Diabetes

Pei Zhou , Sun Chengjun , Wang Hongsheng , Zhai Xiaowen , Luo Feihong

Objective: To observe and analyze the efficacy and safety of autologous stem cell transplantation (AHSCT) in children with type 1 diabetes.Methods: Twelve children were enrolled in our study who were newly diagnosed as type 1 diabetes in Children’s Hospital of Fudan University from Sep 2009 to Dec 2011. Changes in the exogenous insulin requirement were observed and HbA1C and C peptide level were measured before and after AHSCT.<p class="abstext"...

hrp0089p3-p308 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Efficacy of Ziyin Xiehuo Granules and Zishen Qinggan Granules in girls with Partial Precocious Puberty: A Multicenter, Randomized, Single-Blinded, Controlled Trial

Sun Wen , Han Xinhui , Yu Jian , Wang Yonghong , Yan Weili

Objective: To evaluate the effect of Ziyin Xiehuo granules (ZYXH) and Zishen Qinggan granules (ZQ7G) on partial precocious puberty (PPP).Methods: The present study was a multicenter, randomized, single-blinded, positive-controlled trial. A total of 143 patients were assigned to either the ZYXH group or the ZQ7G group using a random number table. The ZYXH group received ZYXH three times daily for 6 months, while the ZQ7G group received ZQ7G three times da...

hrp0089lb-p15 | Late Breaking P1 | ESPE2018

A Novel Compound Heterozygous Mutation of the CYP17A1 Gene is Associated with Rhabdomyolysis: Demonstration of Combining 17α-hydroxylase/17,20-Lyase Deficiency

Chen Hong , Wang Chunlin , Liang Li , Yan Qingfeng

Objective: To investigate the clinical and molecular characteristics of a girl with 17α hydroxylase/17,20-lyase deficiency, of which, onset was as rhabdomyolysis and hypokalemia. And then we identified the functional consequences of two novel CYP17A1 mutations.Materials and Methods: A 11 years old girl, 46,XX karyotypes, presented with rhabdomyolysis, hypokalemia and hypertension. She had elevated levels of plasma adrenocorticotropic hormone, serum ...

hrp0086p2-p94 | Adrenal P2 | ESPE2016

11β- Hydroxylase Deficiency due to a Novel Compound Heterozygous Mutation and Literature Review

Wu Wei , Dong Guanping , Li Yun , Wang Jinling

Background: The incidence of 11β-hydroxylase deficiency is quite low in China, less is reported about the gene mutation in Chinese population.Objective and hypotheses: To analyze the clinical features and CYP11B1 gene mutations of a family with 11β-hydroxylase deficiency (11β-OHD) and literature review were also included.Method: Physical examination and laboratory tests were done on a 4 years old girl and gene mutati...

hrp0082p1-d2-117 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Ratio of Triglycerides to High-Density Lipoprotein Cholesterol Compared with Homeostasis Model Assessment Insulin Resistance Indexes in Screening the Metabolic Syndrome in Chinese Obese Children

Liang Jianfeng , Fu Junfen , Wang Jinling , Jiang Youjun , Dong Guanping

Background: IDF-2007 MS definition (MS-IDF2007) for children and adolescents has been challenged frequently in clinical practice and should be improved further. Therefore, it becomes imminent to explore an accessible and effective tool to screen obese children with the metabolic syndrome components.Objective and hypotheses: To investigate the optimal cut-off values and compare the accuracy for the triglycerides and HDL cholesterol ratio and homeostasis m...

hrp0082p2-d1-258 | Adrenals &amp; HP Axis | ESPE2014

ACTH and Cortisol Levels are Associated with Cardiovascular Risk in Pediatric Obesity: a Cross-Sectional Study in China

Liang Jianfeng , Fu Junfen , Wang Jinling , Jiang Youjun , Dong Guanping

Background: The hypothalamic–pituitary–adrenal (HPA) axis, and cortisol in particular, has been reported to be involved in obesity-associated metabolic disturbances in adults and in specific populations of adolescents.Objective and hypotheses: To investigate the associations between serum ACTH and cortisol levels and cardiovascular risk factors in obese children and adolescents.Method: Of 1119 obese children and adolescen...