Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.

doi:10.1210/jcem.83.9.5125

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Article

Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.

The Journal of clinical endocrinology and metabolism - 1 Sept 1998

Nordenskjöld A, Ivarsson S A

Abstract excerpt

The molecular background of 5 alpha-reductase type 2 deficiency was investigated in a Swedish family with no known consanguinity and in which the affected males were fertile. The three male siblings were born with ambiguous external genitalia, and the diagnosis of 5 alpha-reductase deficiency was...

Topics

3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Adolescent
Base Sequence
Child
Exons
Fertility
Heterozygote
Humans
Male
Mutation
Phenotype
Sequence Analysis, DNA
Sweden

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