hrp0094p2-414 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A novel mutation of SOX2 gene in an idiopathic hypogonadotropic hypogonadism patient with olfactory bulb agenesis

Tang Yijun , Chen Yao , Feng Biyun , Li Qun , Wang Yirou , Li Xin , Chang Guoying , Li Juan , Ding Yu , Wang Jian , Wang Xiumin

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...

hrp0095p2-254 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Intracranial beta human chorionic gonadotropin(β-hCG)-secreting germ cell tumor in a girl with central precocious puberty

Huang Meng-tian , Zheng Ru-jiang , MA Hua-mei , LI Yan-hong , Jiang Bo , Huang Li-Bin , Guo Song , Zhang Jun , Chen Qiu-Li

Background: Precocious puberty is common in boys occasionally in girls with beta human chorionic gonadotropin (β-hCG)-secreting intracranial tumors, and is reported to be peripheral precocious puberty exclusively.Object: To described a girl with intracranial β-hCG-secreting germ cell tumor(GCT) who presented with central precocious puberty(CPP).Method:<...

hrp0092fc1.1 | Diabetes and Insulin Session 1 | ESPE2019

Insulin Resistance Leads to Mitochondrial Dysfunction in Hepatocyte

Chen Hong , Fang Yanlan , Liang Li , Wang Chunlin

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...

hrp0092rfc5.6 | Thyroid | ESPE2019

Complex Single Nucleotide Polymorphisms in SEPINA 7 Lead to TBG Deficiency

yanlan Fang , Hong Chen , Li Liang , Chunlin Wang

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...

hrp0092p1-61 | Fat, Metabolism and Obesity | ESPE2019

Association Among PGRN, HMGB1, and Obesity Related Markers in Young Rat Model of High Fat Diet-Induced Obesity

Chen Hongshan , Li Dan , Zhang Yuanyuan , Huang Siqi , He Xiaohua

Objective: We aim to investigate the association among progranulin (PGRN), high-mobility group box 1 (HMGB1), and obesity related markers in young rat model of high fat diet-induced obesity.Materials and Methods: 20 Male Sprague-Dawley (SD) rats at the age of 21 days were divided into two groups randomly. The rats were fed with normal diet (NC group) or high-fat diet (OB group). The NC group and OB group were sacrificed ...

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)....

hrp0092p2-222 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Case Report of Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) Caused by Rare AVPR2 Gene Active Mutation

li wenjing , chen jiajia , sun jiapeng , gong chunxiu

Objective: The AVPR2 gene mutation usually cause nephrogenic diabetes insipidus. We report a patient who carried an active gene mutation of AVPR2 presenting persistent hyponatremia, which resembled to the syndrome of inappropriate antidiuretic hormone secretion (SIADH)Method: We describe a patient whose clinical and laboratory evaluation were consistent with hyponatremia, which hardly to be corrected to normal. After the...

hrp0092p2-238 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Risk Factors for Hypogonadism in Patients with β-Thalassemia Major: A Cross-Sectional Study

Jiang Zhuan-nan , Liang Li-yang , Meng Zhe

Objective: To investigate the prevalence of hypogonadism in patients with β-Thalassemia Major (β-TM) and explore the risk factors.Method: 42 β-TM patients (≥= 10 years old) were investigated by questionnaire, physical examination and laboratory examination to evaluate their stages of puberty development and sex hormone level.And then,effects of age, the beginning age of chelation, iron overload, geno...

hrp0092p3-154 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

NSD2 Mutation in a Family with a New Intellectual Disability and Short Stature Syndrome: a 7.5 Years Follow-Up

Hu Xuyun , WU Di , Li Yuchuan , Gong Chunxiu , Shen Yiping

Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patie...

hrp0092p3-195 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Changes of Serum 25OHD Levels in Girls with Different Types of Central Precocious Puberty and Clinical Significance

Xu Liya , Li Pin , Gong Yan , Guo Sheng

Department of Pediatric Endocrinology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, ChinaAbstract Withdrawn...