Young Jacques
Service d'endocrinologie et des maladies de la reproduction, CHU de Bicêtre, Université Paris Sud 11, Le Kremlin-Bicêtre.
Presse Med. 2007 Sep;36(9 Pt 2):1319-25. doi: 10.1016/j.lpm.2007.01.041. Epub 2007 May 23.
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.
血色素沉着症最常见的两种内分泌并发症是糖尿病和低促性腺激素性性腺功能减退。与该疾病相关的其他内分泌疾病非常罕见，尤其在最严重和最早出现的输血后铁过载中有所描述。内分泌并发症是晚期血色素沉着症的证据，通常已伴有肝硬化。鉴于2型糖尿病中HFE突变的频率较低，对该人群进行常规基因检测似乎不合理。对于非典型2型糖尿病患者（例如不超重的患者）以及性腺功能减退、特征性色素沉着或肝硬化的病例，建议进行铁过载检测。放血疗法在血色素沉着症内分泌并发症的管理中起着重要作用，尤其是在早期诊断时。在所有低促性腺激素性性腺功能减退的病例中，都必须考虑原发性血色素沉着症。
