title: Unsuspected Klinefelter syndrome diagnosed during oncologic evaluation: a case series.
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.
authors.affiliation: Division of Cancer Prevention & Population Sciences, Roswell Park Cancer Institute, Buffalo, NY 14263, USA. margaret.eberl@roswellpark.org
authors.forename: Margaret M
authors.initials: MM
authors.lastname: Eberl
authors.forename: Maria R
authors.initials: MR
authors.lastname: Baer
authors.forename: Martin C
authors.initials: MC
authors.lastname: Mahoney
authors.forename: Sheila N J
authors.initials: SN
authors.lastname: Sait
authors.forename: Annemarie W
authors.initials: AW
authors.lastname: Block
authors.forename: Carolyn D
authors.initials: CD
authors.lastname: Farrell
mesh_terms: D001707:Biopsy, Needle; D001853:Bone Marrow / Q000473:pathology; D020732:Cytogenetic Analysis / Q000379:methods; D003937:Diagnosis, Differential; D019337:Hematologic Neoplasms / Q000175:diagnosis; D006801:Humans; D007621:Karyotyping / Q000379:methods; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008297:Male; D008495:Medical Oncology / Q000379:methods; D008875:Middle Aged; D011320:Primary Health Care / Q000379:methods