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Unsuspected Klinefelter syndrome diagnosed during oncologic evaluation: a case series
Margaret M Eberl1, Maria R Baer, Martin C Mahoney
1Division of Cancer Prevention & Population Sciences, Roswell Park Cancer Institute, Buffalo, NY 14263, USA. margaret.eberl@roswellpark.org
Abstract:
Klinefelter syndrome is an underdiagnosed chromosomal disorder that has significant implications for health and for medical management. This report presents 5 adult male patients diagnosed with previously unsuspected Klinefelter syndrome as a result of cytogenetic testing for suspected hematologic malignancies. This case series highlights the importance of maintaining a comprehensive and holistic approach to medical care. The medical, genetic, and psychosocial implications of the Klinefelter diagnosis are discussed.