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Titolo:
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specificamplification
Autore:
Theodoropoulou, M; Barta, C; Szoke, M; Guttman, A; Staub, M; Niederland, T; Solyom, J; Fekete, G; Sasvari-Szekely, M;
Indirizzi:
Semmelweis Univ Med, Dept Med Chem Mol Biol & Pathobiochem, H-1444 Budapest, Hungary Semmelweis Univ Med Budapest Hungary H-1444 em, H-1444 Budapest, Hungary
Titolo Testata:
FETAL DIAGNOSIS AND THERAPY
fascicolo: 4, volume: 16, anno: 2001,
pagine: 237 - 240
SICI:
1015-3837(200107/08)16:4<237:PDOS2D>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL ADRENAL-HYPERPLASIA; POLYMERASE-CHAIN-REACTION; GEL-ELECTROPHORESIS; GENETIC DIAGNOSIS; MUTATIONS; DISEASE;
Keywords:
PCR; genotyping; allele-specific amplification; CYP21 gene; prenatal diagnosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Barta, C Semmelweis Univ Med, Dept Med Chem Mol Biol & Pathobiochem, POB 260, H-1444 Budapest, Hungary Semmelweis Univ Med POB 260 Budapest Hungary H-1444 est, Hungary
Citazione:
M. Theodoropoulou et al., "Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specificamplification", FETAL DIAGN, 16(4), 2001, pp. 237-240

Abstract

Objective: Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency (21-OHD) is the most common cause of ambiguous genitalia in females at birth. Here, we report the first prenatal diagnosis of 21-OHD by DNA analysis in Hungary. Methods: Allele-specific amplification (ASA) of the DNAobtained by chorionic villus sampling was performed, Results: The fetus had a homozygous nonsense mutation (Gln318Stop), suggesting a salt-wasting phenotype, Dexamethasone treatment of the mother was started on the 8th gestational week and, as the fetus was an affected female, it was continued until term. The newborn had normal external genitalia at birth, and severe salt-wasting crisis and postnatal virilization was prevented by mineralo- and glucocorticoid replacement therapy. Conclusion: 21-OHD was genotyped by ASA,and virilization of the fetus was prevented by antenatal dexamethasone therapy. Copyright (C) 2001 S. Karger AG,Basel.

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Documento generato il 04/04/20 alle ore 15:06:26