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  • Title: Hypophyseal gonadotropin insufficiency in a young woman with idiopathic hemochromatosis.
    Author: Resnitzky P, Zuckerman H, Harpaz S.
    Journal: Isr J Med Sci; 1981 May; 17(5):359-66. PubMed ID: 7263194.
    Abstract:
    A 24-year-old women suffering from primary sterility was diagnosed in 1971 as having idiopathic hemochromatosis (IH). The diagnosis was made on the basis of high serum iron and high transferrin saturation, ferrokinetic studies, including iron absorption, liver biopsy showing heavy deposits of iron in the parenchymatous cells, and a family history. Except for slight elevations in the serum transaminases, there were no clinical or laboratory findings of liver pancreatic, myocardial, or dermal involvement by hemochromatosis. Endocrine evaluation revealed gonadotropin insufficiency as the cause of sterility. The patient was treated with periodic phlebotomies for seven years, and the mount of iron withdrawn during that time was calculated to be approximately 27 g. A repeat liver biopsy showed complete disappearance of the iron excess of the fibrotic changes that had been present in 1971. Repeated relevant clinical and laboratory studies did not reveal any pathological findings consistent with hemochromatosis. A complete endocrine evaluation, including stimulatory tests (luteinizing hormone releasing hormone, thyrotropin-releasing hormone, insulin, and metyrapone), disclosed only findings consistent with hypophyseal gonadotropin insufficiency, and these were attributed to iron deposition. It can be assumed that the prolonged treatment with phlebotomies prevented the development of liver, pancreatic, myocardial, or other clinical endocrine disease, but had no effect on the already damaged pituitary. The patient's clinical course followed the pattern recently described in other young patients with IH.
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