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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.
AuthorsLuca Santarelli, Maurizio Gabrielli, Ruggero Orefice, Enrico C Nista, Michele Serricchio, Manuela Nestola, GianLudovico Rapaccini, Maria De Ninno, Paolo Pola, Giovanni Gasbarrini, Antonio Gasbarrini
JournalJournal of clinical gastroenterology (J Clin Gastroenterol) Vol. 37 Issue 2 Pg. 189-91 (Aug 2003) ISSN: 0192-0790 [Print] United States
PMID12869895 (Publication Type: Case Reports, Journal Article)
Topics
  • Adult
  • Focal Nodular Hyperplasia (complications, diagnosis, pathology)
  • Humans
  • Klinefelter Syndrome (complications)
  • Liver (diagnostic imaging, pathology)
  • Male
  • Tomography, X-Ray Computed
  • Ultrasonography, Doppler, Color

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