21-hydroxylase deficiency carrying I172N and R483 frameshift mutations:a case report and literature review
YONG Zenghua
WANG Xiaoying
YAO Hebin
Abstract：Objective To analyze the genetic characteristic and clinical phenotype of a Chinese patient with 21 hydrosylase deficiency (21-OHD), and to explore the necessity of hormone glucocorticoid therapy .Methods Collect clinical data, extracted peripheral blood DNA , amplified by PCR and DNA sequencing to identify CYP 21A2 gene mutations, and with NCBI website and human cytochrome P 450 ( CYP) CYP21A2 gene mutation associated database comparison , further analysis patients with mutations in the relationship between the characteristics and clinical phenotype .Results The patient presented with a deep voice and masculine genitalia .Gene sequencing results are shown as compound heterozygous mutation , an allele T518A mutation in I172N missense mutation;another allele for the 1451-1452GG→C mutation, resulting in R483 frameshift mutation, which is so far very few reports A rare mutation .This compound heterozygous mutation mainly caused purely mascu-line performance.Conclusion R483 frameshift mutation is a rare mutation in CYP21A2 gene from molecular genetics con-firmed the diagnosis of the patient , but also a good explanation of the clinical phenotype .For female patients of childbearing age are more necessity hormone therapy .
Keywords：21-hydroxylase deficiencyGene mutationsCYP21A2
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 159-161 )