Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age.

The effects of early androgen treatment on neurodevelopmental performance in pre-pubertal boys with 47,XXY have not been well investigated. The influence of hormones on brain development in humans suggests that a positive effect on neurodevelopmental outcome in young boys with XXY may be plausible with hormone replacement therapy. The aim of the study was to investigate retrospectively if an early course of androgen treatment (three injections of testosterone enanthate, 25 mg, each) had an impact on specific domains of neurodevelopmental function in boys with 47,XXY at 36 and 72 months of age. One hundred one boys with a karyotype of 47,XXY had neurodevelopmental assessments. The retrospective chart review resulted in one group (n = 34) who had received androgen treatment during infancy and the second group was untreated (N = 67). Statistical analysis was completed to determine if there was a positive effect from treatment observed at 36 and at 72 months on multiple domains of development. There were significant differences in multiple cognitive domains in the group who received androgen treatment, including multiple measures of language, intellectual, and neuromotor skills. Improved function was observed in neurodevelopmental outcome in boys with 47,XXY at 36 and 72 months who had been treated with a short course of androgen treatment in infancy. Continued research is underway to expand our understanding of the relationship of androgen, brain function, and neurobehavioral and neurodevelopmental outcome in boys with 47,XXY.

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome.

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.