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Substitution Mutation C268Y Causes 17ß-Hydroxysteroid Dehydrogenase 3 Deficiency¹

The Departments of Obstetrics-Gynecology and Biochemistry (A.L., S.A.), University of Texas Southwestern Medical Center, Dallas, Texas 75390-9032; and Department of Pediatrics (I.A.H.), University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom

Address all correspondence and requests for reprints to: Stefan Andersson, Ph.D., Department of Obstetrics-Gynecology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390-9032. E-mail: stefan.andersson{at}utsouthwestern.edu

Abstract

The 17ß-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 17ß-HSD 3 deficiency, is reported. Reconstitution experiments with recombinant protein reveal that substitution of tyrosine for cysteine at position 268 of 17ß-HSD type 3 abrogates the enzymatic activity. This finding brings to 20 the number of mutations in the HSD17B3 gene that cause male undermasculinization.

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