title: Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.
abstract: 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.
authors.affiliation: Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Nordenskjöld
authors.forename: O
authors.initials: O
authors.lastname: Magnus
authors.forename: O
authors.initials: O
authors.lastname: Aagenaes
authors.forename: J
authors.initials: J
authors.lastname: Knudtzon
mesh_terms: D000293:Adolescent; D000409:Alanine / Q000235:genetics*; D042944:Cholestenone 5 alpha-Reductase; D012734:Disorders of Sex Development / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D010641:Phenotype; D013912:Threonine / Q000235:genetics*
chemical_list: D013912:Threonine; D010088:Oxidoreductases; D042944:Cholestenone 5 alpha-Reductase; D000409:Alanine