17-beta-hydroxysteroid dehydrogenase deficiency overview

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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]

Synonyms and keywords: 17-beta hydroxysteroid dehydrogenase III deficiency, 17-ketosteroid reductase deficiency of testis, 17-KSR deficiency, Neutral 17-beta-hydroxysteroid oxidoreductase deficiency, Male Pseudohermaphroditism with gynecomastia, Testosterone 17-beta-dehydrogenase deficiency

Overview

17-beta-hydroxysteroid dehydrogenase deficiency is a rare autososmal recessive developmental disorder that affects male sexual development. The synthesis of testestrone is impaired and the levels in the serum is low which disrupts the formation of external male genitalia before birth. The affected individual is genetically male with XY chromosomes with phenotype female or ambigiounal external genitalia. They are raised as girls.