A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma

Journal of Andrology, 04/23/2012

A 31 years old Caucasian male was referred for panhypopituitarism resulting from an operated craniopharyngioma. The patient had been previously submitted to kidney transplantation for end–stage–renal–disease due to X–linked Alport syndrome (ATS). Subsequent Quantitative–Fluorescent–Polymerase–Chain–Reaction–analysis indicated a 47,XXY–karyotype, consistent with Klinefelter syndrome (KS). This is the first description of the co–occurrence of KS, ATS and craniopharyngioma.

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