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

Surgical therapy is guided by the risk of germ cell tumor development and to allow for proper gender assignment.

Surgical therapy

• Patients with 17-beta hydroxysteroid dehydrogenase deficiency have moderate risk of germ cell tumor.
• These patients must be monitored closely, as the development of germ cell tumor requires the removal of the gonads.
• Surgery can also be used to treat anatomic changes due to the hormonal disorder. Patients with this disease may present with ambiguous or female genitalia, despite most of them developing male gender identity.
• Some studies have suggested that early surgical treatment may improve outcomes. Feminising genitoplasty usually requires less surgery interventions than masculinizing genitoplasty. Outcomes vary greatly in both cases. Many patients may present with risk of neoplasia associated with the neovagina, while regarding the masculinizing genitoplasty's results are heavily associated with the amount of erectile tissue and degree of hypospadias.