[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].

Article

[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].

Acta medica portuguesa - 1 Jan 2000

Mendes Catarina, Vaz Matos Inês, Ribeiro Luís, Oliveira Maria João, Cardoso Helena, Borges Teresa

Abstract excerpt

INTRODUCTION: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is one of the most frequent inborn conditions. It is caused by distinct mutations in the CYP21A2 gene and in the majority of cases the disease's severity correlates with CYP21A2 allelic variation Our aim was to describe...

Topics

Adrenal Hyperplasia, Congenital
Female
Genotype
Humans
Infant, Newborn
Male
Mutation
Phenotype
Portugal
Retrospective Studies
Steroid 21-Hydroxylase

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