Case report of a patient with Klinefelter syndrome treated with testosterone injections presenting with thrombotic thrombocytopenic purpura

Shira R Saul, Michael Jaker


Thrombotic thrombocytopenic purpura (TTP) has been described as a pentad of thrombocytopenia, microangiopathic hemolytic anemia (MAHA), fluctuating neurologic signs, renal impairment and fever. Guidelines for treating patients with Klinefelter syndrome (KS), the most common chromosome aneuploidy, include testosterone replacement. We present the first case of adult with KS who presented with TTP after treatment with intramuscular testosterone injection. Whetheror not the presentation is an association or coincidence is unknown, though in this report, we summarize the current understanding of testosterone supplementation in patients with KS. Original articles, case reports and reviews were obtained using a MEDLINE search between 1948 and 2013. Retrospective studies have concluded that in patients with KS there was an increased incidence of hematologic malignances with erythrocytosis being the only consistently documented hematologic abnormality associated with testosterone supplementation. A randomized, placebo-controlled study is needed to access the long-term effects of testosterone treatment in patients with KS.

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Case Reports in Internal Medicine

ISSN 2332-7243(Print)  ISSN 2332-7251(Online)

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