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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

The 17 beta-hydroxysteroid dehydrogenase (HSD) type 3 isozyme catalyzes the conversion of androstenedione to testosterone in the testis. Deleterious mutations in the HSD17B3 gene cause undermasculinization in genetic males attributable to impaired testosterone biosynthesis. Hence, a hallmark of this autosomal recessive disorder is a decreased plasma testosterone-to-androstenedione ratio. Here, a novel C268Y substitution mutation in exon 10 of the HSD17B3 gene, in a subject with 17 beta-HSD 3 deficiency, is reported. Reconstitution experiments with recombinant protein reveal that substitution of tyrosine for cysteine at position 268 of 17 beta-HSD type 3 abrogates the enzymatic activity. This finding brings to 20 the number of mutations in the HSD17B3 gene that cause male undermasculinization.[1]


  1. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Lindqvist, A., Hughes, I.A., Andersson, S. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
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