Okano J, Yanase T, Takayanagi R, Mimura K, Nawata H
Third Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka.
Nihon Naibunpi Gakkai Zasshi. 1994 Jan 20;70(1):57-64. doi: 10.1507/endocrine1927.70.1_57.
A 37-yr-old woman was admitted to our hospital for evaluation of diabetes mellitus, liver cirrhosis and primary amenorrhea. Serological and hematological examinations revealed that she suffered from hemochromatosis secondary to congenital dyserythropoietic anemia (CDA), characterized by ineffective hematopoiesis and erythropoietic dysplasia. Iron deposition was suggested by MRI on the pancreas, liver and pituitary gland. Endocrinological examinations demonstrated that she had isolated gonadotropin deficiency and ovarian failure, resulting in hypogonadotropic hypogonadism. In addition, despite normal responses of serum cortisol and plasma aldosterone to ACTH and furosemide-standing tests, respectively, serum dehydroepiandrosterone (DHEA) responded poorly to ACTH test, suggesting selective damage of zona reticularis in adrenocortical steroidogenesis in association with hemochromatosis.
一名37岁女性因糖尿病、肝硬化和原发性闭经入院接受评估。血清学和血液学检查显示，她患有先天性红细胞生成异常性贫血（CDA）继发的血色素沉着症，其特征为无效造血和红细胞生成异常。MRI显示胰腺、肝脏和垂体有铁沉积。内分泌检查表明她存在孤立性促性腺激素缺乏和卵巢功能衰竭，导致低促性腺激素性性腺功能减退。此外，尽管血清皮质醇和血浆醛固酮分别对促肾上腺皮质激素（ACTH）和速尿立位试验反应正常，但血清脱氢表雄酮（DHEA）对ACTH试验反应不佳，提示血色素沉着症相关的肾上腺皮质类固醇生成中网状带存在选择性损伤。
