[Endocrine consequences of hemochromatosis].
The two most frequent endocrine complications of hemochromatosis are diabetes mellitus and hypogonadotrophic hypogonadism. Other endocrine disorders related to this disease are very rare and are described especially in the most severe and earliest posttransfusion iron overloads. Endocrine complications are evidence of advanced hemochromatosis, often already associated with cirrhosis. Given the low frequency of HFE mutations in type 2 diabetes, routine genetic testing in this population does not seem reasonable. Testing for iron overload is recommended in subjects with atypical type 2 diabetes (for example, patients who are not overweight) and in cases of hypogonadism, characteristic pigmentation, or cirrhosis. Phlebotomy plays an important role in the management of endocrine complications of hemochromatosis, especially when diagnosis is early. In all cases of hypogonadotrophic hypogonadism, primary hemochromatosis must be considered.
Young
Jacques
J
Service d'endocrinologie et des maladies de la reproduction, CHU de Bicêtre, Université Paris Sud 11, Le Kremlin-Bicêtre. Jacques.young@bct.aphp.fr
D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000209:etiology; D003937:Diagnosis, Differential; D004700:Endocrine System Diseases / Q000453:epidemiology / Q000209:etiology*; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D008103:Liver Cirrhosis / Q000453:epidemiology / Q000209:etiology; D008565:Membrane Proteins / Q000235:genetics; D017354:Point Mutation / Q000235:genetics
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins