Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2)

The enzyme steroid 5 alpha-reductase, via NADPH, catalyses the conversion of testosterone to dihydrotestosterone, which is required for the embryonic differentiation of the external male genitalia and the prostate. An impairment of this reaction causes a form of male pseudohermaphroditism in which g...

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Bibliographic Details
Published in:Molecular pathology 1997-02, Vol.50 (1), p.51-52
Main Authors: Anwar, R, Gilbey, S G, New, J P, Markham, A F
Format: Article
Language:English
Subjects:
3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics
Adult
Biological and medical sciences
Disorders of Sex Development - enzymology
Disorders of Sex Development - genetics
Gynecology. Andrology. Obstetrics
Humans
Male
Male genital diseases
Medical sciences
Non tumoral diseases
Point Mutation
Polymerase Chain Reaction
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Summary:The enzyme steroid 5 alpha-reductase, via NADPH, catalyses the conversion of testosterone to dihydrotestosterone, which is required for the embryonic differentiation of the external male genitalia and the prostate. An impairment of this reaction causes a form of male pseudohermaphroditism in which genetic males differentiate predominantly as phenotypic females. Molecular analysis of the 5 alpha-reductase type 2 gene in a patient with confirmed biochemical 5 alpha-reductase deficiency has resulted in the identification of a novel mutation, GAA to AAA, at codon 200. This mutation produces an amino acid change from glutamic acid to lysine, and may affect the ability of the enzyme to bind its co-factor.
ISSN:1366-8714
1472-4154
DOI:10.1136/mp.50.1.51