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

The molecular basis of a patient with 5α‐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...

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Bibliographic Details
Published in:American journal of medical genetics 1998-11, Vol.80 (3), p.269-272
Main Authors: Nordenskjöld, Agneta, Magnus, Øystein, Aagenæs, Øystein, Knudtzon, Jörgen
Format: Article
Language:English
Subjects:
5α-reductase type 2 gene
Biological and medical sciences
Gynecology. Andrology. Obstetrics
Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance
male pseudohermaphroditism
Medical sciences
mutation
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Summary:The molecular basis of a patient with 5α‐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 5α‐reductase type 2 gene, alanine 228 for threonine. The heterozygous parents are first cousins of Pakistani origin. Am. J. Med. Genet. 80:269–272, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19981116)80:3<269::AID-AJMG18>3.0.CO;2-T