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Article

Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.

Clinical endocrinology - 1 Apr 1993

Rumsby G, Honour J W, Rodeck C

Abstract excerpt

OBJECTIVE: Our aim was to develop a rapid and accurate method for the prenatal diagnosis of congenital adrenal hyperplasia using the polymerase chain reaction to detect mutations in the steroid 21-hydroxylase gene. These procedures will help to minimize exposure to dexamethasone treatment of either affected males or unaffected females. DESIGN AND PATIENTS: Chorionic villus biopsy samples were obtained between 10...

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PMID: 8319374
DOI: 10.1111/j.1365-2265.1993.tb00524.x

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