Enzyme Research
Data on enzyme research discussed by F. Baldinotti and colleagues
Published in Women's Health Weekly, April 3rd, 2008
"Steroid 5 alpha-reductase (5 alpha R) deficiency (OMIM number #264600) is a rare 46,XY disorder of sex differentiation caused by mutations in the 5aR type 2 gene (SRD5A2) resulting in dihydrotestosterone deficiency during fetal development. We report on the analysis of the SRD5A2 gene in 6 unrelated 46,XY Italian patients with external genitalia morphology ranging from predominantly female to nearly completely male," scientists in Pisa, Italy report.
"Three subjects were seen and assessed at birth, 1 patient was referred to us before puberty, and 2 at postpubertal age. Six different causative mutations (5 missense and 1 nonsense) and a rare polymorphism were...
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