Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndrome in a Child With Klinefelter Syndrome.

Abstract

Klinefelter syndrome is characterized by gynecomastia, hypogonadism, small testes, elevated levels of follicle-stimulating hormone and an extra X chromosome (ie, 47,XXY).1 These patients tend to have an increased risk of developing male breast cancer and mediastinal germ cell tumors.2,3 Hematologic malignancies including acute or chronic leukemia are also observed in these patients,4 but only a few case reports with Klinefelter syndrome who developed myelodysplastic syndrome (MDS) were published.4–7