Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia

• Type: Article in International Scientific Journal
• Date: 2010

Authors

Marques, CJ (Author) Other; Pignatelli, D (Author) Other; Carvalho, B (Author) Other; Barcelo, J (Author) Other; Almeida, AC (Author) Other; Fernandes, S (Author) Other; Witchel, SF (Author) Other; sousa, m (Author) ICBAS; Oliveira, MJ (Author) Other; Freitas, P (Author) Other; Fontoura M (Author) FMUP; Carvalho, Davide (Author) FMUP; barros, a (Author) FMUP; carvalho, f (Author) FMUP

Journal

Title: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Vol. 118

Pages: 505-512

ISSN: 0947-7349

Indexing

ISI Web of Knowledge - 9 Citations

Scopus - 10 Citations

Other information

Authenticus ID: P-003-491

DOI: 10.1055/s-0029-1237363

Abstract (EN): Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common inherited disorder of adrenal hormone biosynthesis due to mutations in the 21-hydroxylase gene, CYP21A2. Genotyping for ten of the most frequent mutations was performed in 84 Portuguese CAH patients: 10 salt-wasters, 6 simple-virilizers and 68 non-classical patients. The patients were diagnosed by a level of 17-hydroxyprogesterone above 10 ng/ml either in basal conditions or after an ACTH 0,25 mg IV Test. A variety of genotyping techniques were used to detect these ten mutations. CYP21A2 mutations were detected in 91.7% (77/84) of the patients. The frequency of alleles carrying two or more CYP21A2 mutations (9.5% - 16/168) is higher than in other populations. The most frequent mutations identified in our population were V281L (41.7%) and deletions/conversions involving the promoter region of the CYP21A2 gene (28.3%). A decreased frequency of IVS2-12C/A > G mutation (5.6%) was the most characteristic feature of our population. This study allow the characterization of the mutational spectrum of CAH patients, mainly non-classical CAH, with 21-hydroxylase deficiency from Portugal showing specific genetic features of this population which reveals differences with worldwide countries.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8