17-beta-hydroxysteroid dehydrogenase deficiency differential diagnosis

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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 should be differentiated from other diseases that cause ambiguous genitalia

Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases

  • 17 beta hydroxysteroid dehydrogenase deficiency should be differentiated from other diseases that cause ambiguous genitalia.[1][2]
Disease name Steroid status Important clinical findings
Increased Decreased
Classic type of 21-hydroxylase deficiency
11-β hydroxylase deficiency
17-α hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Gestational hyperandrogenism

References

  1. Folsom LJ, Hjaige M, Liu J, Eugster EA, Auchus RJ (2019). "Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency". Mol Cell Endocrinol. 489: 3–8. doi:10.1016/j.mce.2018.11.014. PMC 6511466 Check |pmc= value (help). PMID 30508571.
  2. White PC (1994). "Genetic diseases of steroid metabolism". Vitam Horm. 49: 131–95. doi:10.1016/s0083-6729(08)61147-4. PMID 7810070.

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