Aim: The aim of this investigation was to ascertain whether an early course of androgen treatment (three injections testosterone enanthate, 25 mg) could have a positive impact on any domains of neurodevelopmental function in boys with 49,XXXXY.

Methods: A total of 22 boys with a karyotype of 49,XXXXY participated in a multidisciplinary assessment of neurocognition, speech and language, paediatric neurology and endocrinology evaluations. One group had received early androgen and another group did not receive any hormonal treatment prior to the evaluation. The mean age of treatment for Group 1 was 12 months with the mean age of first evaluation 74 months. The mean age of first evaluation for Group 2 was 87 months. Statistical analysis was completed to determine whether there was a positive treatment effect from androgen therapy.

Results: There was a significant positive treatment effect in speech and language domain, gestural communication and vocabulary development. No treatment effect was seen on nonverbal capacities.

Conclusion: Our findings revealed improved function in several areas of development which had been severely delayed in boys with 49,XXXXY. Continued research is underway to expand our understanding of the relationship of androgen, brain function and behavioural outcome in boys with 49,XXXXY.

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