A unique patient presenting with case report concomitant klinefelter syndrome, alport syndrome, and craniopharyngioma

Mario Rotondi, Chiara Fallerini, Barbara Pirali, Ilaria Longo, Daniela Pasquali, Teresa Rampino, Luca Chiovato, Francesca Mari, Alessandra Renieri

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1155-1159
Number of pages5
JournalJournal of Andrology
Volume33
Issue number6
DOIs
Publication statusPublished - 2012

ASJC Scopus subject areas

  • Urology
  • Reproductive Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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