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

✍ Scribed by Nordenskj�ld, Agneta; Magnus, �ystein; Aagen�s, �ystein; Knudtzon, J�rgen

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 22 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981116)80:3<269::aid-ajmg18>3.0.co;2-t

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✦ Synopsis

The molecular basis of a patient with 5␣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 5␣-reductase type 2 gene, alanine 228 for threonine. The heterozygous parents are first cousins of Pakistani origin.

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