Testosterone and the child (0-12 years) with Klinefelter syndrome (47XXY): a review

Abstract

Aim: To review the evidence base for providing testosterone therapy in the infant and prepubertal child with Klinefelter syndrome (KS).

Methods: Major databases were searched to identify articles that addressed the role of testosterone in the development of the male foetus with and without KS and that characterized testicular function in infants with KS.

Results: Infants with KS have been shown to have an increased frequency of clinical features consistent with deficient testosterone production. However, there are conflicting results regarding whether testosterone levels are low or normal. No direct data address the outcome of therapy in the prepubertal child.

Conclusion: There is an absence of data that directly address the risks and benefits of testosterone therapy in prepubertal children with KS outside of the entity of microphallus. At this time, there is no other documented benefit for testosterone therapy in these children.