17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]

Overview

17 beta hydroxysteroid dehydrogenase deficiency is inherited in an autosomal recessive pattern.

Molecular genetic studies

• 17 beta hydroxysteroid dehydrogenase deficiency is inherited in an autosomal recessive pattern.
• A molecular basis of this condition has been shown to be the result of any of twenty mutations in the HSD17B3 gene, a gene that is expressed predominately in the testes.