Original Article
Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency
Huang Shurong, Su Zhe, Zhang Longjiang, Zhao Xiu, Wen Pengqiang
Published 2020-08-10
Cite as Chin J Med Genet, 2020, 37(8): 815-818. DOI: 10.3760/cma.j.issn.1003-9406.2020.08.003
Abstract
ObjectiveTo summarize the clinical characteristics of two children with nonclassical 21 hydroxylase deficiency (NC-21OHD) due to variants of CYP21A2 gene promoter region.
MethodsClinical characteristics and the results of genetic testing were reviewed.
ResultsThe main clinical manifestations of the two children included precocious puberty with poor bone age/progression control and menstrual disorder with hirsutism. Patient 1 had compound heterozygous variants for -126C>T, -113G>A, -110T>C and p. I173N; her mother was heterozygous for -126C>T, -113G>A and -110T>C, and her father was heterozygous for p. I173N. Patient 2 had compound heterozygous variants for -126C>T, -113G>A and p. I2G, whose mother was heterozygous for -126C>T and -113G>A, and father was heterozygous for p. I2G.
ConclusionDiagnosis of NC-21OHD should be considered for children with hirsutism, menstrual disorder and poor bone age/progression control. The promoter region of CYP21A2 gene should be analyzed when no variant is detected in its coding regions.
Key words:
Congenital adrenal hyperplasia; 21-hydroxylase deficiency; CYP21A2 gene
Contributor Information
Huang Shurong
Department of Endocrinology, Shenzhen Children’s Hospital, Shenzhen, Guangdong 518038, China
Su Zhe
Department of Endocrinology, Shenzhen Children’s Hospital, Shenzhen, Guangdong 518038, China
Zhang Longjiang
Department of Endocrinology, Shenzhen Children’s Hospital, Shenzhen, Guangdong 518038, China
Zhao Xiu
Department of Endocrinology, Shenzhen Children’s Hospital, Shenzhen, Guangdong 518038, China
Wen Pengqiang
Institute of Pediatrics, Shenzhen Children’s Hospital, Shenzhen, Guangdong 518038, China
