hrp0086p1-p910 | Thyroid P1 | ESPE2016

Partial Thyroxine Binding Globulin Deficiency in Test Tube Babies: Cases Report and Literatures Review

Yanlan Fang , Chunlin Wang , Li Liang

Background: Partial thyroxine-binding globulin deficiency (TBG-PD) is an endocrine defect with a prevalence of 1:4 000 in newborns. Due to the presence of a single TBG gene on the X chromosome.Objective and hypotheses: To investigate the clinical characteristics of twins with thyroxine binding globulin deficiency and to find SERPINA7 gene mutations.Method: Data related to clinical characteristics, serum biochemistry, gene mutations...

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...

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)....

hrp0092p3-223 | 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...

hrp0089p1-p237 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Premature Ovarian Insufficiency in Girls Caused by Autosomal Microdeletions: 3 Case Reports

Yuan Ke , He Minfei , Fang Yanlan , Zhu Jianfang , Liang Li , Wang Chunlin

Objectives: Premature ovarian insufficiency (POI) is mostly considered X chromosome abnormalities in child. Few of POI cases are associated with autosomal abnormalities. This study was to identify new genes involved POI in three girls.Methods: Three girls who came to the hospital because of no menstruation were investigated. They were 14, 15, and 14 years old. They did not find any breast tissue in their physical examination. Clinical data, sex hormones,...

hrp0089p3-p359 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Long-Term Follow-up in a Chinese Child with Lipoid Congenital Adrenal Hyperplasiadue to STARmutation

Zhao Xiu , Liu Xia , Wang Li , Pan Lili , Zhang Longjiang , Su Zhe

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe and extremely rare form of congenital adrenal hyperplasia (CAH). The typical features include 46, XY disorder of sex development (DSD), early-onset adrenal crisis and enlarged adrenal with fatty accumulation. We reported a case of congenital lipoid adrenal hyperplasia (CLAH) caused by steroidogenic acute regulatory protein (STAR) gene mutation. The patient had typical early-onset adrenal crisis at the age of 2 mon...

hrp0089p3-p360 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

46,XY Gonadal Dysgenesis Accompanied by Neuropathy Caused by a DHH Mutation

Su Zhe , Pan Lili , Wang Li , Chen Weiyan , Song Jianming , Li Shoulin

Objectives: To summarize the clinical manifestations of a patient of 46,XY partial gonadal dysgenesis (PGD) accompanied by neuropathy. This is the first reported case of DHH mutation from China.Methods: We retrospectively reviewed the case and summarized the clinical history, physical examinations, laboratory and genetics tests, electromyography, ultrasound, surgical exploration and histopathology results.Results: The 14.3-year-old...

hrp0089p3-p107 | Diabetes & 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...