17-beta-hydroxysteroid dehydrogenase deficiency medical 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 discussed, depending on the expected result of virilization genioplasty. Affected individuals who raised as male may virilize on their own or with the help of testosterone treatment.
• In female patients who underwent gonadectomy, appropriate intervention with estrogen therapy should be introduced at the time of puberty to induce secondary sexual characteristics.
• Patients with 17 beta hydroxysteroid dehydrogenase deficiency have moderate risk of germ cell tumor development and close monitoring is required.
• Gender identity starts to develop around age 3 but it is not clear when it can be reliably assessed. The patient and family will require psychological counseling to accept the diagnosis and the infertility that follows it.