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

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). The relevance of this unique case stems from several issues: i) KS was an unexpected finding due to a previous diagnosis of hypogonadotropic hypogonadism resulting from craniopharyngioma; ii) the discovery of a de novo p.G406S substitution causing ATS; iii) the multifactor origin of severe sexual dysfunction. This is the first description of the co-occurrence of KS, ATS and craniopharyngioma.