Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
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Lindqvist A, Hughes IA, Andersson S
Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
J Clin Endocrinol Metab. 2001 Feb;86(2):921-3.
- PubMed ID
- 11158067 [ View in PubMed]
- Abstract
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.