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.</...

hrp0092p3-260 | 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...