Sone Masakatsu, Shibata Hirotaka, Homma Keiko, Tamura Naohisa, Akahira Jun-Ichi, Hamada Satoshi, Yahata Mitsuhiko, Fukui Nobuyuki, Itoh Hiroshi, Sasano Hironobu, Nakao Kazuwa
Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Kyoto, 606-8507, Japan.
Endocrine. 2009 Feb;35(1):25-33. doi: 10.1007/s12020-008-9123-5. Epub 2008 Nov 5.
We report a case of hypertension, hypokalemia, and amenorrhea accompanying an adrenocortical carcinoma. A 27-year-old woman was admitted to our hospital because of a left adrenal incidentaloma. She presented with hypertension, hypokalemia, and amenorrhea; her plasma renin activity was low, but her plasma aldosterone concentration was normal, as were cortisol and androgens. By contrast, her serum concentrations of deoxycorticosterone (DOC), 18-hydroxydeoxycorticosterone, and progesterone were high, and her urinary steroid profile showed elevated secretion of 17-deoxysteroids and 11-deoxysteroids (progesterone, DOC, 11-dehydrocorticosterone, and 11-deoxycortisol), and 3beta-hydroxy 5-en steroids (pregnenolone, 17-hydroxypregnenolone, and DHEA). Decreased ratios of metabolites of (1) 17-OHpregnenolone to pregnenolone and 17-OHprogesterone to progesterone, (2) corticosterone to DOC and cortisol to 11-deoxycortisol, and (3) progesterone to pregnenolone, 17-OHprogesterone to 17-OHpregnenolone and androstenedione to DHEA suggested the impairment of 17alpha-hydroxylase, 11beta-hydroxylase, and 3beta-HSD activities, respectively. After the tumor was removed, levels of all adrenal steroids were normalized. Based on the Weiss criteria, the tumor was diagnosed as an adrenocortical carcinoma, and immunohistochemical analysis of steroidogenic enzymes revealed disorganized steroidogenesis in the tumor tissue. With adrenocortical carcinomas, heterogeneity of individual steroid producing enzymes within tumor cells can lead to hypersecretion of various steroid intermediates, even when steroid end products are within the normal range.
我们报告一例肾上腺皮质癌伴高血压、低钾血症和闭经的病例。一名27岁女性因左肾上腺意外瘤入住我院。她表现为高血压、低钾血症和闭经；血浆肾素活性低，但血浆醛固酮浓度正常，皮质醇和雄激素也正常。相比之下，她的脱氧皮质酮（DOC）、18-羟脱氧皮质酮和孕酮的血清浓度较高，尿类固醇谱显示17-脱氧类固醇和11-脱氧类固醇（孕酮、DOC、11-脱氢皮质酮和11-脱氧皮质醇）以及3β-羟基5-烯类固醇（孕烯醇酮、17-羟孕烯醇酮和脱氢表雄酮）分泌增加。（1）17-羟孕烯醇酮与孕烯醇酮以及17-羟孕酮与孕酮的代谢物比率降低，（2）皮质酮与DOC以及皮质醇与11-脱氧皮质醇的比率降低，（3）孕酮与孕烯醇酮、17-羟孕酮与17-羟孕烯醇酮以及雄烯二酮与脱氢表雄酮的比率降低，分别提示17α-羟化酶、11β-羟化酶和3β-羟类固醇脱氢酶（3β-HSD）活性受损。肿瘤切除后，所有肾上腺类固醇水平恢复正常。根据Weiss标准，该肿瘤被诊断为肾上腺皮质癌，对类固醇生成酶的免疫组织化学分析显示肿瘤组织中类固醇生成紊乱。对于肾上腺皮质癌，肿瘤细胞内各个类固醇生成酶的异质性可导致各种类固醇中间体分泌过多，即使类固醇终产物在正常范围内。
