Two Patients of Acute Leukemia With Underlying Klinefelter Syndrome (47,XXY): A Case Report with a Review of Literature

Abstract Klinefelter syndrome (KS), a common sex chromosome aneuploidy in men (47,XXY), is primarily known for causing infertility and endocrine issues but is also increasingly linked to a higher risk of hematologic malignancies. This abstract presents two cases of young men with KS who developed acute leukemia. Two young men with KS were diagnosed with acute leukemia: one with acute myeloid leukemia (AML-M4) and the other with B-cell acute lymphoblastic leukemia (B-ALL). Their cases highlight a notable association between KS and the development of these blood cancers. Cytogenetic analysis showed the constitutional 47,XXY karyotype in both patients, in addition to distinct, acquired chromosomal abnormalities within their leukemic cells. This suggests that the genetic instability inherent to KS may be a predisposing factor for these cancers. The KS-associated 47,XXY karyotype acts as a predisposing factor for leukemia, with the acquired chromosomal aberrations in the leukemic cells demonstrating a link between the congenital aneuploidy and genomic instability.