The Yale journal of biology and medicine 2012-06-01

Endocrine symptoms as the initial manifestation of Wilson's disease.

Robert Krysiak, Gabriela Handzlik-Orlik, Boguslaw Okopien

文献索引：Yale J. Biol. Med. 85(2) , 249-54, (2012)

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摘要

Wilson's disease is a rare genetic disorder of copper metabolism. The difference in copper tissue accumulation is responsible for the various clinical manifestations of this disorder. If left untreated, Wilson's disease progresses to hepatic failure, severe neurological disability, and even death. Due to the complex clinical picture of Wilson's disease, its diagnosis relies on a high index of suspicion. In our paper, we present endocrine symptoms suggesting the presence of insulinoma and hyperprolactinemia as the initial clinical manifestation of Wilson's disease in a young female. Zinc acetate treatment resulted in the disappearance of hypoglycemia, galactorrhea, and menstrual abnormalities.