Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).
AUTOR(ES)
Anwar, R.
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=379579Documentos Relacionados
- Molecular genetics of steroid 5 alpha-reductase 2 deficiency.
- LY191704: a selective, nonsteroidal inhibitor of human steroid 5 alpha-reductase type 1.
- Cell-type-specific expression of rat steroid 5 alpha-reductase isozymes.
- High dose androgen therapy in male pseudohermaphroditism due to 5 alpha-reductase deficiency and disorders of the androgen receptor.
- Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression.