Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification

Marily Theodoropoulou, C. Barta, Melinda Szoke, A. Guttman, M. Staub, Tamás Niederland, J. Sólyom, G. Fekete, M. Sasvári

Research output: Contribution to journalArticle

3 Citations (Scopus)

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 DNA obtained 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.

Original languageEnglish
Pages (from-to)237-240
Number of pages4
JournalFetal Diagnosis and Therapy
Volume16
Issue number4
DOIs
Publication statusPublished - 2001

Fingerprint

Steroid 21-Hydroxylase
Prenatal Diagnosis
Virilism
Fetus
Alleles
Dexamethasone
Salts
Parturition
Chorionic Villi Sampling
Disorders of Sex Development
Mineralocorticoids
Genitalia
Hungary
Nonsense Codon
DNA
Glucocorticoids
Phenotype
Therapeutics
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Keywords

  • Allele-specific amplification
  • CYP21 gene
  • Genotyping
  • PCR
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Pediatrics, Perinatology, and Child Health

Cite this

Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification. / Theodoropoulou, Marily; Barta, C.; Szoke, Melinda; Guttman, A.; Staub, M.; Niederland, Tamás; Sólyom, J.; Fekete, G.; Sasvári, M.

In: Fetal Diagnosis and Therapy, Vol. 16, No. 4, 2001, p. 237-240.

Research output: Contribution to journalArticle

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AU - Barta, C.

AU - Szoke, Melinda

AU - Guttman, A.

AU - Staub, M.

AU - Niederland, Tamás

AU - Sólyom, J.

AU - Fekete, G.

AU - Sasvári, M.

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N2 - 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 DNA obtained 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.

AB - 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 DNA obtained 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.

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