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Licensed Unlicensed Requires Authentication Published by De Gruyter May 19, 2010

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations

  • Paola Concolino , Enrica Mello , Cecilia Zuppi and Ettore Capoluongo


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.

Clin Chem Lab Med 2010;48:1057–62.

Corresponding author: Paola Concolino, PhD, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy Phone: +39 0630154250, Fax: +39 0630156706,

Received: 2010-1-4
Accepted: 2010-3-1
Published Online: 2010-05-19
Published in Print: 2010-08-01

©2010 by Walter de Gruyter Berlin New York

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