Association between Klinefelter syndrome and focal nodular hyperplasia

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

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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