title: Association between Klinefelter syndrome and focal nodular hyperplasia.
abstract: Focal nodular hyperplasia is a benign lesion of the liver, predominantly affecting women. Its etiology is unknown. Elevated levels of estrogens have been invoked to play a role in the disease. Klinefelter syndrome is the most common sex chromosome disorder, characterized by 47, XXY karyotype, resulting in male hypogonadism and sex hormone imbalance. We present a case of a 25-year-old man affected by Klinefelter syndrome, admitted to our hospital for aspecific dyspeptic symptoms. During admission he underwent: blood test for the liver function and sexual hormonal status, ultrasonography, echo color power Doppler and computerized tomography scan of the liver, and liver biopsy. A hypergonadotropic hypogonadism was present. Imaging of the liver showed an hepatic lesion that liver biopsy confirmed to be a focal nodular hyperplasia. Although the association could be casual, the sex hormone imbalance present in Klinefelter syndrome may suggest a role in the development of this benign liver lesion.
authors.affiliation: Internal Medicine Department, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Santarelli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Gabrielli
authors.forename: Ruggero
authors.initials: R
authors.lastname: Orefice
authors.forename: Enrico C
authors.initials: EC
authors.lastname: Nista
authors.forename: Michele
authors.initials: M
authors.lastname: Serricchio
authors.forename: Manuela
authors.initials: M
authors.lastname: Nestola
authors.forename: GianLudovico
authors.initials: G
authors.lastname: Rapaccini
authors.forename: Maria
authors.initials: M
authors.lastname: De Ninno
authors.forename: Paolo
authors.initials: P
authors.lastname: Pola
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gasbarrini
authors.forename: Antonio
authors.initials: A
authors.lastname: Gasbarrini
mesh_terms: D000328:Adult; D020518:Focal Nodular Hyperplasia / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications*; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D014057:Tomography, X-Ray Computed; D018615:Ultrasonography, Doppler, Color