Association between Klinefelter syndrome and focal nodular hyperplasia

Antonio Gasbarrini, Ruggero Orefice, Enrico Celestino Nista, Michele Lorenzo Serricchio, Manuela Nestola, Gian Ludovico Rapaccini, Maria De Ninno, Paolo Pola, Giovanni Battista Gasbarrini, L Santarelli, M Gabrielli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

2 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)189-191
Numero di pagine3
RivistaJournal of Clinical Gastroenterology
Stato di pubblicazionePubblicato - 2003


  • focal nodular hyperplasia
  • klinefelter


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