Document Detail

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.
MedLine Citation:
PMID:  20482300     Owner:  NLM     Status:  MEDLINE    
Steroid 21-hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia, an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17-hydroxyprogesterone), which results in excessive androgen production and varied signs of virilisation. CYP21A2 is an active gene and encodes for the steroid 21-hydroxylase enzyme, whereas CYP21A1P is an inactive pseudogene that contains a series of deleterious mutations. The major part of disease-causing mutations in CYP21A2 alleles are CYP21A1P-derived sequence transferred to the active gene by macro or microconversion events. Approximately 5% of all disease-causing CYP21A2 alleles harbour rare mutations that do not originate from the pseudogene. A list of all reported CYP21A2 mutations can be found in the CYP21A2 database created by the Human Cytochrome P450 (CYP) Allele Nomenclature Committee ( Unfortunately, the last update of this database was in 2006. However, over the last 4 years many other novel CYP21A2 mutations have been reported in PubMed. The aim of this review is to provide a focus on the molecular and genetic aspects of the diagnosis of 21-hydroxylase deficiency. In addition, an updated list of the last new CYP21A2 mutations is included.
Paola Concolino; Enrica Mello; Cecilia Zuppi; Ettore Capoluongo
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Clinical chemistry and laboratory medicine : CCLM / FESCC     Volume:  48     ISSN:  1434-6621     ISO Abbreviation:  Clin. Chem. Lab. Med.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-08-04     Completed Date:  2010-11-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9806306     Medline TA:  Clin Chem Lab Med     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1057-62     Citation Subset:  IM    
Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.
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MeSH Terms
Adrenal Hyperplasia, Congenital / diagnosis*,  genetics
Genetic Loci
Pathology, Molecular
Steroid 21-Hydroxylase / genetics*,  metabolism
Reg. No./Substance:
EC protein, human; EC 21-Hydroxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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