Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.

Article

Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.

American journal of medical genetics - 16 Nov 1998

Nordenskjöld A, Magnus O, Aagenaes O, Knudtzon J

Abstract excerpt

The molecular basis of a patient with 5alpha-reductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identity early in life. The diagnosis was set at the...

Topics

Adolescent
Alanine
Cholestenone 5 alpha-Reductase
Disorders of Sex Development
Female
Genotype
Humans
Male
Mutation
Oxidoreductases
Phenotype
Threonine

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