Unsuspected Klinefelter Syndrome Diagnosed during Oncologic Evaluation: A Case Series

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Figure 1.
Centromere-specific enumeration probes (CEP X SpectrumOrange/CEP Y SpectrumGreen, Vysis, Inc., Downers Grove, IL) hybridized to interphase nucleus from PHA-stimulated peripheral blood sample demonstrating XXY karyotype.

Table 1.

Clinical Highlights of Patients with Previously Unrecognized KS Diagnosed during Cytogenetic Testing

Patient	Age at Presentation (years)	Karyotype	Initial Diagnosis	Final Diagnosis	Physical Findings Relevant to KS	Marital Status, Children	Other
1	56	47,XXY	Thrombo-cytopenia	ITP^*	Tall with long legs	Married, two adopted children	Alcoholism, drug addiction, depression, NIDDM
2	56	47,XXY	AML	AML	Gynecomastia, atrophic testes, female pattern of hair distribution	Never married, no children	Major depression, alcoholism, mild retardation, NIDDM, venous thromboembolism
3	48	47,XXY	NHL	NHL, diffuse large cell	Small, atrophic testes; tall, long arms; no gynecomastia; normal beard, body hair, & apparent build (yet pt indicated increased central fat, even as child)	Widower; wife had history of 1 miscarriage	Chronic back pain, infertility, depression, multiple dental caries
4	67	47,XXY	CLL	CLL	Gynecomastia	Married, 1 stepson	Back pain, 8th grade education, NIDDM, dementia
5	56	47,XXY	CML	CML	None noted	Married, “3 healthy sons”	No mention of KS in patient’s records; only in cytogenetic report

* ITP, idiopathic thrombocytopenic purpura; NIDDM, non-insulin-dependent diabetes mellitus; AML, acute myeloid leukemia; NHL, non-Hodgkin lymphoma; CLL, chronic lymphocytic leukemia; CML, chronic myelogenous leukemia.

Table 2.

Issues of Medical Management and Surveillance among Patients with KS

Medical Issue	Management Strategy
Hypogonadism	Discuss risks and benefits of testosterone supplementation
Osteopenia/osteoporosis	Bone mineral density testing
Gynecomastia/breast cancer risk	Consider breast self-examination instruction
Diabetes mellitus	Counseling for nutrition, exercise
Learning disabilities	Formal testing
Psychiatric/psychological conditions	Evaluation and treatment
Dental caries	Routine dental care