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Date Published: 20/07/2021
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DOI: https://doi.org/10.51298/vmj.v501i1.452
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Vol. 501 No. 1 (2021)
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Chí Dũng, V. ., Vân Khánh, T. ., & Huy Thịnh, T. . (2021). ASSESSING GENOTYPE-PHENOTYPE RELATIONSHIP IN CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY. Vietnam Medical Journal, 501(1). https://doi.org/10.51298/vmj.v501i1.452

ASSESSING GENOTYPE-PHENOTYPE RELATIONSHIP IN CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY

Vũ Chí Dũng, Trần Vân Khánh, Trần Huy Thịnh

Main Article Content

Abstract

Congenital adrenal hyperplasia is a disease caused by mutations in the CYP21A2 gene that partially or completely affect 21-hydroxylase enzyme function. Researchs have shown a strong correlation between genotype and phenotype of congenital adrenal hyperplasia patients and have classified CYP21A2 mutations into four groups (NULL, A, B, C) based on the effects of the mutations on 21-hydroxylase function. The study was conducted with the aim of: Evaluating the correlation between genotype and phenotype in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 183 patients were selected for the study; the patients were evaluated for clinical characteristics and genotype-phenotype correlation were assessed. The results showed that the genotype group NULL accounted for 49%, A accounted for 31%, group B 18% and group C 2%. Evaluation of the correlation between genotype and phenotype showed that the positive predictive value of the four mutation groups (NULL, A, B, C) were 99.8%; 96.5%; 90.6% and 100%. Analysis of the level of virilization showed that the NULL group had the highest severity of virilization, in which Prader IV-V accounted for 56.1%, Prader III accounted for 39%. Group A had the highest proportion of Prader III (68.2%). Group B genotypes have Prader I-II accounted for 40% and III accounted for 40%. Group C patients exhibit only grade I Prader.

Article Details

Keywords

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Genotype-Phenotype correlation, 21-Hydroxylase

References

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