ESPE Abstracts

Objective: To enhance the understanding of the clinical phenotypes of patients with SOX2 gene mutations.Method: A retrospectively analysis of the clinical manifestations and the laboratory results of a child diagnosed as idiopathic hypogonadotropic hypogonadism(IHH) by whole exome-gene sequencing and a review of relevant literatures.Results: A 12-year-old boy clinically manifested short stature, mental retardation, a histo...

Background: Insulin resistance in obesity and type 2 diabetes is associated with abnormalities in mitochondrial oxidative phosphorylation in skeletal muscle. Whether mitochondrial function changes in hepatocytes with hereditary insulin resistance is not clear. Type A Insulin Resistance Syndrome (TAIRS) is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone ins...

Objective: Thyroxine binding globulin (TBG) is the most important thyroid hormone transporter in humans and is encoded by the SERPINA7 gene located on chromosome Xq22.2. By analyzing the genes of TBG-deficient patients, we aim to find a new molecular basis for the possible etiology of the disease.Design and Methods: 10 groups of subjects were enrolled in the pediatric department of the First Affiliated Hospital of Zhejia...

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...

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)....

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...

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),...

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"...

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...

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 ...