An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.

doi:10.1515/jpem.1998.11.5.581

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Article

An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Wedell A

Abstract excerpt

An update on the molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is given. In Sweden, direct mutation detection has been used for genetic diagnosis of this disease since 1990. Around 400 affected 21-hydroxylase genes have been analyzed so far. Mutations that...

Topics

Adrenal Hyperplasia, Congenital
Adrenalectomy
DNA Mutational Analysis
Female
Genotype
Humans
Mutation
Pregnancy
Prenatal Diagnosis
Steroid 21-Hydroxylase
Sweden

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