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46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

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Disease Overview

Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.

Synonyms

  • 17 Beta HSD3 deficiency
  • 17 alpha KSR deficiency
  • 17 alpha ketosteroid reductase deficiency of testis
  • 17 beta HSD3 deficiency
  • 17 beta hydroxysteroid dehydrogenase III deficiency
  • 17-BETA hydroxysteroid dehydrogenase III deficiency
  • 17-Beta hydroxysteroid dehydrogenase 3 deficiency
  • 17-KSR deficiency
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • 17-ketoreductase deficiency
  • 17-ketosteroid reductase deficiency of testis
  • 17-ketosteroidreductase deficiency
  • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • Male pseudoherma-phroditism with gynecomastia
  • Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • neutral 17 beta hydroxysteroid oxidoreductase deficiency
  • neutral 17-Beta-hydroxysteroid oxidoreductase deficiency
  • polycystic ovarian disease due to 17-ketosteroid reductase deficiency
  • polycystic ovary syndrome due to 17-ketosteroid reductase deficiency
  • pseudohermaphroditism, Male, with gynecomastia17 Beta HSD3 deficiency
  • 17 alpha KSR deficiency
  • 17 alpha ketosteroid reductase deficiency of testis
  • 17 beta HSD3 deficiency
  • 17 beta hydroxysteroid dehydrogenase III deficiency
  • 17-BETA hydroxysteroid dehydrogenase III deficiency
  • 17-Beta hydroxysteroid dehydrogenase 3 deficiency
  • 17-KSR deficiency
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • 17-ketoreductase deficiency
  • 17-ketosteroid reductase deficiency of testis
  • 17-ketosteroidreductase deficiency
  • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • Male pseudoherma-phroditism with gynecomastia
  • Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • neutral 17 beta hydroxysteroid oxidoreductase deficiency
  • neutral 17-Beta-hydroxysteroid oxidoreductase deficiency
  • polycystic ovarian disease due to 17-ketosteroid reductase deficiency
  • polycystic ovary syndrome due to 17-ketosteroid reductase deficiency
  • pseudohermaphroditism, Male, with gynecomastia
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