Genotype in the diagnosis of 21-hydroxylase deficiency: Who should undergo CYP21A2 analysis?

被引:0
|
作者
P. Cavarzere
M. Vincenzi
F. Teofoli
R. Gaudino
S. Lauriola
E. Maines
M. Camilot
F. Antoniazzi
机构
[1] University of Verona,Pediatric Clinic, Department of Life and Reproduction Sciences
[2] University of Verona,Department of Pediatrics
[3] Policlinico G.B. Rossi,undefined
来源
Journal of Endocrinological Investigation | 2013年 / 36卷
关键词
21-hydroxylase deficiency; 17-hydroxyprogesterone; CYP21A2 gene; CYP21A2 analysis; congenital adrenal hyperplasia;
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学科分类号
摘要
Aims: to confirm the diagnosis of 21-hydroxylase deficiency (21-OHD) by the analysis of CYP21A2 gene in infants with clinical and/or biochemical features of 21-OHD in order to clarify which patients to submit to genetic analysis; to analyze the genotype-phenotype concordance in these infants. Subjects and methods: We studied 25 children with clinical and/or biochemical features of 21-OHD. All of them and their parents were submitted to genetic analysis of CYP21A2. Patients were classified in 3 groups according to mutations’ severity: severe (group A), moderate (group B) or mild (group C). Results: CYP21A2 gene mutations were found in 17 children. Whereas all infants of groups A and B presented a classical form of 21-OHD, children of group C had a non-classical form of 21-OHD. Four infants resulted heterozygotes and 4 children were wild-type. A girl clinically presenting a non-classical form of 21-OHD resulted compound heterozygote with one of the mutations not described in literature (R25W) and whose residual enzymatic activity is not already known. All affected children presented a 17-OHP level after ACTH stimulation greater than 100 nmol/l. We found an optimal concordance between 17-OHP levels after ACTH test and genotype. Conclusions: CYP21A2 analysis permitted to confirm the diagnosis of 21-OHD in 68% of our children. To improve this percentage we suggest to perform the CYP21A2 analysis only when 17-OHP after ACTH test is greater than 100 nmol/l. Moreover, we found an optimal genotype-phenotype concordance in the 21-OHD patients.
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页码:1083 / 1089
页数:6
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