17-beta-hydroxysteroid dehydrogenase deficiency medical therapy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]

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.

• 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.
• 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.^[1]

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