Conflict of interest: none.
Version of Record online: 23 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 3, pages 501–508, March 2013
How to Cite
Samango-Sprouse, C. A., Sadeghin, T., Mitchell, F. L., Dixon, T., Stapleton, E., Kingery, M. and Gropman, A. L. (2013), Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age. Am. J. Med. Genet., 161: 501–508. doi: 10.1002/ajmg.a.35769
How to Cite this Article:Samango-Sprouse CA, Sadeghin T, Mitchell FL, Dixon T, Stapleton E, Kingery M, Gropman AL. 2013. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age. Am J Med Genet Part A 161A: 501–508.
- Issue online: 21 FEB 2013
- Version of Record online: 23 JAN 2013
- Manuscript Accepted: 15 OCT 2012
- Manuscript Received: 3 AUG 2012
- sex chromosome disorders;
- chromosomal variations;
- Klinefelter syndrome (KS)
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. © 2013 Wiley Periodicals, Inc.