Association between Klinefelter syndrome and focal nodular hyperplasia
| Autor: | Giovanni Gasbarrini, Antonio Gasbarrini, M. Nestola, Ruggero Orefice, Maurizio Gabrielli, Luca Santarelli, Paolo Pola, Enrico Celestino Nista, Gian Ludovico Rapaccini, Michele Serricchio, Maria De Ninno |
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| Rok vydání: | 2003 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Aneuploidy Sex hormone-binding globulin Hypergonadotropic hypogonadism Klinefelter Syndrome medicine Humans Ultrasonography Doppler Color medicine.diagnostic_test biology business.industry Settore MED/09 - MEDICINA INTERNA Gastroenterology Focal nodular hyperplasia klinefelter medicine.disease Liver Focal Nodular Hyperplasia Liver biopsy Etiology biology.protein Liver function Klinefelter syndrome business Tomography X-Ray Computed |
| Zdroj: | Journal of clinical gastroenterology. 37(2) |
| ISSN: | 0192-0790 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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