A case of 21-hydroxylase deficiency caused by compound heterozygous mutations in CYP21A2 gene
10.3760/cma.j.cn113903-20231227-00399
- VernacularTitle:CYP21A2基因复合杂合变异导致21-羟化酶缺陷症1例
- Author:
Rong YAN
1
;
Lan HUA
;
Jun ZENG
;
Zhiqiang WU
;
Jianlin CHEN
;
Hualin HUANG
Author Information
1. 中南大学湘雅二医院妇产科生殖医学中心，长沙 410011
- Publication Type:Journal Article
- Keywords:
CYP21A2 gene;
21-hydroxylase deficiency;
Single-molecule real-time
- From:
Chinese Journal of Perinatal Medicine
2024;27(12):1076-1079
- CountryChina
- Language:Chinese
-
Abstract:
A female infant with ambiguous genitalia, identified at 26 days postnatal, was admitted to the Second Xiangya Hospital, Central South University. Genetic testing was performed on the child's pedigree using multiplex ligation-dependent probe amplification, Sanger sequencing, and whole genome sequencing, which revealed a compound heterozygous variation in the CYP21A2 gene. The specific mutation sites were indeterminate, and third-generation gene sequencing technology, single- molecule real-time sequencing, subsequently identified a chimera-8 type variant of CYP21A1P/CYP21A2 fusion gene and a c.332_339del compound heterozygous variation in the infant. The genotype matched the phenotype, leading to a diagnosis of salt-wasting 21-hydroxylase deficiency, a rare genetic disorder. The infant was treated with hydrocortisone and fludrocortisone replacement therapy, which effectively controlled the condition. At 8 months old, the infant underwent surgery to correct the appearance of the external genitalia, with a favorable prognosis.
