Objective: To summarize the clinical characteristics of two children with nonclassical 21 hydroxylase deficiency (NC-21OHD) due to variants of CYP21A2 gene promoter region.
Methods: Clinical characteristics and the results of genetic testing were reviewed.
Results: The 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.
Conclusion: Diagnosis 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.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.08.003 | DOI Listing |
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[Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2020
Department of Endocrinology, Shenzhen Children's Hospital, Shenzhen, Guangdong 518038, China. su
Objective: To summarize the clinical characteristics of two children with nonclassical 21 hydroxylase deficiency (NC-21OHD) due to variants of CYP21A2 gene promoter region.
Methods: Clinical characteristics and the results of genetic testing were reviewed.
Results: The main clinical manifestations of the two children included precocious puberty with poor bone age/progression control and menstrual disorder with hirsutism.
Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.
Clin Endocrinol (Oxf)
February 2009
Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory of Endocrine Tumor, Shanghai Institute of Endocrinology and Metabolism, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Objective: The variations in the transcriptional regulatory regions of CYP21A2 were rarely investigated in patients with 21-hydroxylase deficiency (21-OHD). The present study aims to verify that the variations in the promoter of CYP21A2 relate to the classical form of 21OHD.
Patients And Methods: CYP21A2 was screened for mutations in 20 patients with the simple virilizing form of 21OHD, including the promoter region.
Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
J Clin Endocrinol Metab
October 2007
Unidade de Endocrinologia do Desenvolvimento e Laboratorio de Hormonios e Genetica Molecular, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, SP 05403-900, Brazil.
Context: Most mutations causing 21-hydroxylase deficiency originate from microconversions between CYP21 pseudogenes and active genes. However, around 20% of the alleles in the nonclassical form (NC-21OHD) remain without identified mutations, suggesting the involvement of regulatory regions. The pseudogene promoter is 80% less active than the CYP21A2 due to the presence of -126C>T, -113G>A, -110T>C, and -103A>G mutations.
View Article and Find Full Text PDFSubstitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
Clin Endocrinol (Oxf)
February 2005
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular-LIM/42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
The classical and nonclassical phenotypes of 21-hydroxylase deficiency represent a continuous spectrum of the impairment of 21-hydroxylase activity due to mutations between the CYP21A2 gene. These mutations occur mainly by microconversion in the homologous nonfunctional CYP21A1P gene. The P30L mutation is associated with the nonclassical form, and it reduces the activity to 30-40% of the normal enzyme.
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