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...

hrp0092p1-278 | 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)....

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 ...

hrp0092p1-297 | Adrenals and HPA Axis (2) | ESPE2019

A Novel Compound Heterozygous Mutation in the CYP11B2 Gene, Including an Intron 7 Splice Site, is Responsible for Aldosterone Synthase Deficiency Type II

Zhu Jianfang , Chen Hong , Wang Chunlin , Fang Yanlan , Kong Yuanmei , Liang Li

Objective: To investigate the clinical and molecular characteristics of a girl with aldosterone synthase deficiency type II (ASDII). We also identified the consequences of a novel splice site mutation in the CYP11B2 gene.Materials and Methods: A4-month-old girl presented with vomiting, diarrhea, and failure to thrive. Her 17α-OHP, cortisol, renin, and aldosterone were all in the normal range, and the ACTH stimulatio...

hrp0092p3-223 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Indentification of a de Novo Mutation in the SRY Gene in a 46,XY Complete Gonadal Dysgenesis Patient with Gonadal Neoplasia and Review of Tumor Risk in 46,XY DSD Patients

He Minfei , Chen Hong , Zhu Yilin , Fang Yanlan , Zhu Jianfang , Liang Li , Wang Chunling

Objective: To determine the mutation in the SRY gene in a 46,XY complete gonadal dysgenesis patient with bilateral gonadoblastoma and coexisting dysgerminoma. Evaluate the functional consequence of mutated SRY gene in the tumor risk of 46,XY DSD.Methods and Materials: The proband was a 13-year-old girl who was admitted for examination due to undeveloped secondary sexual characteristics. She had no breas...

hrp0089p3-p399 | Diabetes & Insulin P3 | ESPE2018

Family Investigation and Clinical Phenotype Analysis of Type A Insulin Resistance Syndrome

Chen Yonghua , Chen Hong , Fang Yanlan , Wang Chunlin , Zhu Jianfang , Liang Li

Objective To study a large Chinese family with Type A Insulin Resistance Syndrome (TAIRS) and the members’ clinical phenotypes. Explore their genotype-phenotype relationship between environmental factors and hereditary features. Methods 19 members of the family were investigated for their past history, dietary habits and living habits. PCR and Sanger sequencing were applied to detect mutations of the INSR gene among 6 core members from the Pedigree. Besides, fasting blood...

hrp0082p2-d1-568 | Sex Development | ESPE2014

46XY, DSD due to 5α-Reductase Type 2 Deficiency in 19 Chinese Patients

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei , Chen Hong-Shan , Chen Qiu-Li

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

hrp0095p1-178 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Human chorionic gonadotropin (hCG)–secreting hepatoblastoma in an male infant with peripheral precocious puberty and 11-year follow-up

MA Hua-mei , LI Yan-hong , Chen Qiu-li , DU Min-lian

Background: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP),rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

hrp0095p2-23 | Adrenals and HPA Axis | ESPE2022

Primary pigmented nodular adrenocortical disease in a young boy associated with a rare somatic mutation of the PRKACA: case report and literature review

Xu Yu-ying , Li Yan-hong , Chen Qiu-li , Ma Hua-mei , Zhang Jun , Guo Song

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...