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http://purl.uniprot.org/citations/24081139http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24081139http://www.w3.org/2000/01/rdf-schema#comment"

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 wildtype. 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."xsd:string
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http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/author"Antoniazzi F."xsd:string
http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/author"Camilot M."xsd:string
http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/author"Lauriola S."xsd:string
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http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/author"Vincenzi M."xsd:string
http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/author"Gaudino R."xsd:string
http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/author"Maines E."xsd:string
http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/name"J Endocrinol Invest"xsd:string
http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/pages"1083-1089"xsd:string
http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/title"Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis?"xsd:string
http://purl.uniprot.org/citations/24081139http://purl.uniprot.org/core/volume"36"xsd:string
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