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Date Published: 21/07/2021
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DOI: https://doi.org/10.51298/vmj.v501i2.499
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Vol. 501 No. 2 (2021)
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Huy Thịnh, T. ., Chí Dũng, V. ., & Vân Khánh, T. . (2021). MUTATION IDENTIFICATION OF CYP21A2 FOR PATIENTS WITH NON-CLASSICAL FORM OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY. Vietnam Medical Journal, 501(2). https://doi.org/10.51298/vmj.v501i2.499

MUTATION IDENTIFICATION OF CYP21A2 FOR PATIENTS WITH NON-CLASSICAL FORM OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY

Trần Huy Thịnh, Vũ Chí Dũng, Trần Vân Khánh

Main Article Content

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is autosomal recessive disorder caused by mutations in CYP21A2. The clinical severity is classified into classical form including the salt-wasting and the simple virilizing form, and the non-classic (NC) form. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth. Objective: to identify mutations of CYP21A2 in patients with non-classic form of CAH due to 21-OHD. Patiens and Method: the clinical phenotype was described and the mutation analysis of CYP21A2 was performed for four cases with non-classic form of CAH. Results: the mutations of CYP21A2 were identified in all four studied cases. Three of four patients (75%) are males and have genotype of p.V281L/p.L307FfsX6. One case is female and has genotype of p.P30L + p.P459_L464dup/ p.P459_ L464dup. The variant of p.P459_L464dup was not reported in the database of CYP21A2 mutations

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Keywords

CYP21A2 mutations

References

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