hrp0092p2-7 | Adrenals and HPA Axis | ESPE2019

Updates on Genotype and Phenotype of Vietnamese Patients with X-Linked Adrenoleukodystrophy

Nguyen Thu Ha , Dung Vu Chi , Nguyen Ngoc Khanh , Thao Bui Phuong , Mai Do Thi Thanh

Background: The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28. This disease is characterized by progressive neurologic dysfunction, and occasionally associated with adrenal insufficiency. The estimated frequency is about 1:42000 in male, whereas the estimated frequency for heterozygous women is 1:14000. There was no correlation between genotype and phenotype of X-ALD patients....

hrp0086rfc1.4 | Adrenals | ESPE2016

Mutations of ABCD1 in 16 Vietnamese Patients with X-linked Adrenoleukodystrophy

Vu Dung , Nguyen Ngoc Khanh , Nguyen Thu Ha , Bui Phuong Thao , Can Thi Bich Ngoc , Nguyen Phu Dat , Shimozawa Nobuyuki

Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.</...

hrp0092p3-21 | Adrenals and HPA Axis | ESPE2019

Pheochromocytoma in Children: A Case Report

Trong Thanh Nguyen , Vu Chi Dung , Phuong Thao Bui , Nguyen Ngoc Khanh , Do Thanh Mai , Thu Ha Nguyen

Pheochromocytoma (PCC) is a rare tumor arising from the adrenal medulla as well as extra-adrenal paraganglion system and secreting catecholamines causing severe hypertension in children. The gold standard for diagnosis is the measurement of free plasma levels of metanephrines while management evaluates the location and size of the tumor and possible metastatic lesions. Preoperative treatment with alpha blockers, beta blockers and tyrosine hydroxylase inhibitors improves safety...

hrp0092p3-260 | Thyroid | ESPE2019

Hashimoto's Thyroiditis in Children: Case Series Report of Three Patients

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

Hashimoto's thyroiditis (HT) is most commonly caused by autoimmune thyroid disease and rarely in children. It is characterized clinically by gradual thyroid failure, with or without goiter formation, due to autoimmune-mediated destruction of the thyroid gland involving apoptosis of thyroid epithelial cells. In fact, thyroid function at presentation may significantly vary in the different pediatric reports, ranging from euthyroidism (52.1%) to overt hypothyroidism (41.4...

hrp0086p2-p570 | Perinatal Endocrinology P2 | ESPE2016

Genotype and Phenotype of 99 Vietnamese Patients with Congenital Hyperinsulinism

Vu Dung , Dang Anh Duong , Bui Phuong Thao , Can Thi Bich Ngoc , Nguyen Ngoc Khanh , Nguyen Phu Dat , Tran Minh Dien , Flanagan Sarah E , Ellard Sian

Background: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of th...

hrp0086p1-p255 | Diabetes P1 | ESPE2016

Transient Neonatal Diabetes Mellitus in Hanoi, Vietnam: Clinical Feature and Outcome

Can Thi Bich Ngoc , Vu Chi Dung , Bui Phuong Thao , Nguyen Ngoc Khanh , Docherty Louise , Edwards Sian , Mackay Deborah , Temple Karen , Ellard Sian

Background: Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1, have also been implicated in TNDM.Objective and hypotheses: To describe clinical features and lab...

hrp0089p3-p269 | Multisystem Endocrine Disorders P3 | ESPE2018

Graves’ Disease in Children with T1DM: A Report of Three Cases

Ngoc Can Thi Bich , Dung Vu Chi , Thao Bui Phuong , Khanh Nguyen Ngoc , Ha Nguyen Thu , Dat Nguyen Phu

Objectives: Type one diabetes mellitus (T1DM) is an autoimmune disorder that is yet the most common type of diabetes in children and adolescents. Therefore, children and adolescents with T1DM are at increased risk for developing other autoimmune diseases including Graves’ disease. Detection of thyroid abnormalities in children is crucial since thyroid dysfunction can affect growth, pubertal maturation, insulin metabolism and gastrointestinal function. Herein, we reported ...

hrp0086p2-p325 | Diabetes P2 | ESPE2016

Diabetic Ketoacidosis and Multiple Organ Failure Syndrome: A Case Study

Thao Phuong Bui , Dung Chi Vu , Khanh Ngoc Nguyen , Ngoc Thi Bich Can

Background: Multiple organ failure syndrome (MOFS) can occur in diabetic ketoacidosis (DKA).Objective and hypotheses: A 6-year old female child had DKA and MOFS.Method: We presented a case study of a child with DKA and MOFS.Results: A 6-year old female child had 1-week history of excessive thirst, polyuria, polydipsia, and weight loss. One day before coming to Vietnam National Hospital of Pediatrics (NHP), sh...

hrp0084p3-690 | Diabetes | ESPE2015

Neonatal Diabetes Mellitus: Clinical Feature and Outcome

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

Background: Neonatal diabetes mellitus (NDM) is a rare (1:300 000–400 000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized on clinical grounds, transient NDM (TNDM) and permanent NDM (PNDM).Objective and hypotheses: To describe clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.<p cl...

hrp0084p3-726 | Diabetes | ESPE2015

Neonatal Diabetes Mellitus due to Insulin Gene Mutation

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

Background: Neonatal diabetes is a rare disorder with an incidence of between 1 in 215 000–500 000 live births with approximately 50% having permanent neonatal diabetes (PNDM). Insulin gene (INS) mutations have recently been described as a cause of PNDM.Objective and hypotheses: To describe clinical features and laboratory manifestations of patient with PNDM due to INS gene mutation and evaluate outcome of management....