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    Am J Med Genet. 1998 Nov 16;80(3):269-72.

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

    Nordenskjöld A, Magnus O, Aagenaes O, Knudtzon J.

    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.

    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 age of 13 years when the virilization process began. Hypospadias repair was performed and he changed to a male gender. DNA sequence analysis disclosed a homozygous mutation in exon 4 of the 5alpha-reductase type 2 gene, alanine 228 for threonine. The heterozygous parents are first cousins of Pakistani origin.

    PMID: 9843052 [PubMed - indexed for MEDLINE]

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