Erythropoietin‐resistant anaemia in a predialysis patient with Klinefelter syndrome

Abstract

A diabetic predialysis patient who had significantly reduced sensitivity to erythropoietin therapy was admitted to Tsukuba University Hospital. Many factors that might have been the cause of the erythropoietin resistance were examined, and a diagnosis of refractory anaemia was made based on a bone marrow aspiration biopsy. A cytogenetic abnormality (47, XXY) was also detected in the bone marrow biopsy specimen, and hence the patient was also diagnosed with Klinefelter syndrome. It was suspected that the sex chromosome abnormality influenced glucose intolerance, renal insufficiency, and erythropoietin resistance due to myelodysplastic changes in the bone marrow.

A case of Klinefelter syndrome with aplastic anemia

“…These include stimulation of erythropoietin release, increasing bone marrow activity and iron incorporation into the red cells. Shimizu et al [4] have reported a Klinefelter syndrome patient with anemia due to erythropoietin resistance. Furthermore, deficiency of androgens can cause abnormal activation of T cell.…”