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Klinefelter syndrome presenting as behavioral problems in a young adult

Abstract

Background An 18-year-old Somali man presented to a primary care clinic to investigate a potential pathophysiological reason for behavioral problems at school that had arisen in the past 1–2 years. A previous physical examination at school revealed the patient to have small, firm testicles which prompted further testing.

Investigation Thyroid function and levels of prolactin, total testosterone, follicle-stimulating hormone and luteinizing hormone were determined. Testes were measured. Chromosome analysis testing was performed to determine the patient's karyotype.

Diagnosis Klinefelter syndrome with a 47,XXY karyotype.

Management Testosterone replacement therapy was recommended, but the patient declined treatment.

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Acknowledgements

The authors would like to thank the GIM RISE group at Harborview Medical Center. Written consent for publication was obtained from the patient. C. P. Vega, University of California, Irvine, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the MedscapeCME-accredited continuing medical education activity associated with this article.

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All authors researched the data for the article, provided a substantial contribution to discussions of the content, contributed equally to writing the article and reviewed and/or edited the manuscript before submission.

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Correspondence to Alexandra M. Molnar.

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The authors declare no competing financial interests.

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Molnar, A., Terasaki, G. & Amory, J. Klinefelter syndrome presenting as behavioral problems in a young adult. Nat Rev Endocrinol 6, 707–712 (2010). https://doi.org/10.1038/nrendo.2010.186

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