A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma

J Androl. 2012 Nov-Dec;33(6):1155-9. doi: 10.2164/jandrol.111.016204. Epub 2012 Apr 19.


A 31-year-old Caucasian male was referred for panhypopituitarism resulting from a surgically removed craniopharyngioma. The patient had been previously submitted to kidney transplantation for end-stage renal disease from 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: 1) KS was an unexpected finding because of a previous diagnosis of hypogonadotropic hypogonadism resulting from craniopharyngioma; 2) the discovery of a de novo p.G406S substitution causing ATS; and 3) the multifactor origin of severe sexual dysfunction. This is the first description of the co-occurrence of KS, ATS, and craniopharyngioma.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Collagen Type IV / genetics
  • Craniopharyngioma / complications*
  • Craniopharyngioma / surgery
  • Humans
  • Hypogonadism / complications
  • Hypopituitarism / etiology*
  • Klinefelter Syndrome / complications*
  • Klinefelter Syndrome / diagnosis
  • Male
  • Nephritis, Hereditary / complications*
  • Nephritis, Hereditary / genetics
  • Young Adult


  • COL4A5 protein, human
  • Collagen Type IV