title: A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma.
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.
authors.affiliation: Unit of Internal Medicine and Endocrinology, Fondazione Salvatore Maugeri IRCCS, University of Pavia, Pavia, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Rotondi
authors.forename: Chiara
authors.initials: C
authors.lastname: Fallerini
authors.forename: Barbara
authors.initials: B
authors.lastname: Pirali
authors.forename: Ilaria
authors.initials: I
authors.lastname: Longo
authors.forename: Daniela
authors.initials: D
authors.lastname: Pasquali
authors.forename: Teresa
authors.initials: T
authors.lastname: Rampino
authors.forename: Luca
authors.initials: L
authors.lastname: Chiovato
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
mesh_terms: D000328:Adult; D024141:Collagen Type IV / Q000235:genetics; D003397:Craniopharyngioma / Q000150:complications* / Q000601:surgery; D006801:Humans; D007006:Hypogonadism / Q000150:complications; D007018:Hypopituitarism / Q000209:etiology*; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications* / Q000235:genetics; D055815:Young Adult
chemical_list: C478159:COL4A5 protein, human; D024141:Collagen Type IV