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Date Published: 30/03/2023
Abstract Views: 234
Views PDF: 118
DOI: https://doi.org/10.51298/vmj.v524i2.4846
Issue
Vol. 524 No. 2 (2023)
Section
Các bài báo
How to Cite
Trần , Đình A. T. ., Vũ , C. D. ., Lương , T. L. A. ., Nguyễn, T. M. N. ., Hoàng, T. L. ., Nguyễn, H. Đức A. ., & Trần , Đức P. (2023). ANALYSIS THE REPEAT CHANGES OF AR GENE IN PATIENTS WITH ANDROGEN INSENSITIVITY SYNDROME. Vietnam Medical Journal, 524(2). https://doi.org/10.51298/vmj.v524i2.4846

ANALYSIS THE REPEAT CHANGES OF AR GENE IN PATIENTS WITH ANDROGEN INSENSITIVITY SYNDROME

Đình Anh Tuấn Trần 1, Chí Dũng Vũ 2, Thị Lan Anh Lương 1, Thị Minh Ngọc Nguyễn3, Thu Lan Hoàng1, Hữu Đức Anh Nguyễn1, Đức Phấn Trần 1,
1 Hanoi medical university hospital
2 Vietnam National Children's Hospital.
3 Hanoi medicla university hospital

Main Article Content

Abstract

Androgen insensitivity syndrome is one of the most common disorders of sexual development. The AR gene test is an accurate method of determining the cause of androgen insensitivity syndrome. Objectives: To present the clinical characteristics, chromosomal formula and sequencing AR gene of patients with antiandrogen syndrome. Methods: We used Sanger sequencing to identify AR gene mutations in 14 patient with androgen insensitivity syndrome. Results: With the application of AR gene sequencing method in androgen insensitive patients, we detected more than times CAG repeats on the AR gene in 5/14 patients with female phenotype, karyotype 46,XY, having SRY gene. , 2 cases have karryotyp 46,XX but have testicular differentiation gene ZFY, 3/14 patients have point mutation in AR gene. This result helps the family to orient the patient's sex and is the basis for prenatal diagnosis in the next birth for the patient's family.

Article Details

Keywords

Androgen Insensitivity Syndrome, AR gene, bisexual.

References

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