hrp0092p3-141 | GH and IGFs | ESPE2019

Treatment Outcome of Growth Hormone in Turner Syndrome Children

Thao Bui Phuong , Dung Vu Chi , Nhu Hoa Pham Thi , Khanh Nguyen Ngoc , Bich Ngoc Can Thi , Mai Do Thi Thanh , Ha Nguyen Thu

Background: Turner syndrome (TS) patients frequently have short stature. Females adults with TS are usually 20 cm shorter than normal females. Growth hormone (GH) can improve final height in TS patients.Objective: To evaluate GH therapy for children with Turner syndrome in term of efficacy and side effectPatient and Method: This serial cases study was done in TS patients in a perio...

hrp0086p2-p573 | Perinatal Endocrinology P2 | ESPE2016

IPEX Syndrome Caused by A Novel Mutation in Foxp3 Gene: A Case Report

Bich Ngoc Can Thi , Chi Dung Vu , Phuong Thao Bui , Ngoc Khanh Nguyen , Thanh Mai Do Thi , Johnson Matthew , De Franco Elisa , Ellard Sian

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare and life-threatening primary immunodeficiency characterized by widespread autoimmunity. Mutations in the FOXP3 gene have been identified as the cause for IPEX syndrome.Objective and hypotheses: To describe clinical characteristics and genetic finding in the first Vietnamese patient with mutation of FOXP3 gene.Meth...

hrp0082p3-d3-728 | Diabetes (2) | ESPE2014

The Result of Sulphonylureas Treatment in Patients with Neonatal Diabetes Mellitus due to kcnj11/abcc8 Gene Mutations in Vietnam

Bich Ngoc Can Thi , Chi Dung Vu , Phuong Thao Bui , Ngoc Khanh Nguyen , Phu Dat Nguyen , Ellard Sian , Craig Maria , Thi Hoan Nguyen

Background: Neonatal diabetes may be defined as hyperglycemia diagnosed within the first 6 months of life which is permanent neonatal diabetes or transient neonatal diabetes. They can result from some gene mutations such as KCNJ11, ABCC8, INS, GCK, … In there, the most common cause of neonatal diabetes mellitus is associated with activating mutations in the KCNJ11 gene, which encodes Kir6.2-a subunit of the ATP-sensitive potassium channel (KATP) of the β cell and AB...