Case Study: Hematologic malignancy in a patient with Klinefelter’s Syndrome: An Uncommon Association


A 30-year-old male who had diabetes for a year and a half attended my clinic and had other co-morbid conditions like hypertension, hypothyroid and hypogonadism. Clinically, his appearance fits in to Klinefelter’s syndrome (KS) as he had gynecomastia, scant pubic hair and small testes. Six months back, on one occasion, he had high blood pressure and raised creatinine, and he was diagnosed with acute renal failure. Later, he had a nose bleed for which he underwent a battery of tests consisting of complete blood count, bleeding time, clotting time, bone marrow aspiration and bone marrow biopsy. In the intervening period, he was given a trial of B12 injection in terms of megaloblastic anemia. But there was no improvement, so investigation was reviewed and treatment was planned, which proved he had myelodysplastic syndrome because of the drastic falling of Hb thrombocytopenia.

Literature on Klinefelter’s and myelodysplastic syndrome was reviewed. There was a constant association of DM and other malignancies like Hodgkin and non-Hodgkin disease, and myeloproliferative disorder. Diabetes is associated with certain cancers like pancreatic and endometrial cancer. Even the therapy for diabetes is associated with certain cancers, e.g., Glargine with pancreatic cancer, and Pioglitazone with bladder cancer.

Only Metformin and insulin analogues are exceptions. Insulin resistance and thyroid deficiency has fallen on the hemopoietic system, resulting in myelodysplastic syndrome, as per the general understanding.


This case is important because of the serious problem of symptoms in a young 30-year-old male who already had diabetes. Incidentally, he was screened and found to have a complex of Klinefelter’s syndrome with hypertension, diabetes and hypothyroidism as co-morbidities.

With thorough investigation in a private multi-specialty hospital, he was found to have a serious problem of myelodysplastic syndrome, which is a malignant hematological condition. This combination of so many co-morbid conditions make a 30-year-old male’s life miserable, while his quality of life can be kept in a reasonable and sound way by the team work of hematologist, oncologist, diabetologist, and lastly, a primary care physician who makes a vital contribution in maintaining the disease.

Case Presentation

A short-statured man, with the main complaint of fatigue on examination, was found to have an absence of pubic hair, auxiliary hair and small testes which gives an idea of hypogonadism. His CVS and RS were not contributory. P-A Examination also did not give any clues, except DM, hypertension and hypothyroidism. Having diabetes for 1 year and 6 months, hypertension and hypothyroidism, his main purpose to visit my clinic was to control of blood sugar and to have free communication to clear certain disease-related doubts.

Medical history: Does not have any relevant and significant history, except that he does not have children.

Social: He is non-alcoholic, a non-smoker and is an agriculture worker residing at a rural setup.

Family: Both parents are diabetic and they are under my care. There is no past history of infective disease, jaundice, malaria, etc. He consulted with medical conditions: hypertension and hypothyroidism.

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