17-beta-hydroxysteroid dehydrogenase deficiency surgical therapy

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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

If the diagnosis of 17 beta hydroxysteroid dehydrogenase deficiency is made at birth, gender assignment should be discussed, depending on the expected result of virilization genioplasty.

Medical therapy

  • If the diagnosis of 17 beta hydroxysteroid dehydrogenase deficiency is made at birth, gender assignment should be discused. Patients with this disorder usually develop male gender identity and many patients who are raised as girls often change to male gender identity after puberty onset. This requires appropriate follow up for gender assignment and consideration as the potential of fertility in such patients is unknown.[1][2]
  • Patients with 17 beta hydroxysteroid dehydrogenase deficiency have moderate risk of germ cell tumor development and close monitoring is required.[2]
  • Gender identity starts to develop around age 3 but it is not clear when it can be reliably assessed.

References

  1. Cohen-Kettenis PT (2005). "Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency". Arch Sex Behav. 34 (4): 399–410. doi:10.1007/s10508-005-4339-4. PMID 16010463.
  2. 2.0 2.1 Melnik B, Hollmann J, Hofmann U, Yuh MS, Plewig G (1990). "Lipid composition of outer stratum corneum and nails in atopic and control subjects". Arch Dermatol Res. 282 (8): 549–51. doi:10.1007/BF00371952. PMID 2082839.

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