Comite F, Schiebinger R J, Albertson B D, Cassorla F G, Vander Ven K, Cullen T F, Loriaux D L, Cutler G B
J Clin Endocrinol Metab. 1984 Mar;58(3):435-40. doi: 10.1210/jcem-58-3-435.
We report a 2 10/12-yr-old girl with precocious pseudopuberty due to a feminizing adrenal carcinoma without Cushing's syndrome. The patient had marked elevation of plasma concentrations of the delta 5 adrenal steroids dehydroepiandosterone and dehydroepiandrosterone sulfate and increased levels of androstenedione, estrone, estradiol, and testosterone. Adrenal microsomal 3 beta-hydroxysteroid dehydrogenase-isomerase 17-hydroxylase, 17,20-desmolase, and 21-hydroxylase activities in the tumor and adjacent normal adrenal gland were measured. The tumor had approximately normal levels of 17-hydroxylase and 17,20-desmolase activity, with low levels of 21-hydroxylase and 3 beta-hydroxysteroid dehydrogenase-isomerase activities. This combination of enzyme activity may explain the absence of Cushing's syndrome and the high levels of delta 5 adrenal steroids. This patient demonstrates that adrenal neoplasms arising in girls may mimic isosexual true precocious puberty and should be included in the differential diagnosis of precocious puberty.
我们报告了一名2又10/12岁的女孩,因患无库欣综合征的女性化肾上腺皮质癌而出现性早熟假性青春期。该患者血浆中δ5肾上腺类固醇脱氢表雄酮和硫酸脱氢表雄酮的浓度显著升高,雄烯二酮、雌酮、雌二醇和睾酮水平也升高。测定了肿瘤及相邻正常肾上腺组织中的肾上腺微粒体3β-羟类固醇脱氢酶-异构酶、17-羟化酶、17,20-裂解酶和21-羟化酶活性。肿瘤的17-羟化酶和17,20-裂解酶活性水平大致正常,而21-羟化酶和3β-羟类固醇脱氢酶-异构酶活性水平较低。这种酶活性的组合可能解释了库欣综合征的缺失以及δ5肾上腺类固醇的高水平。该患者表明,女孩中出现的肾上腺肿瘤可能模拟同性真性性早熟,应纳入性早熟的鉴别诊断。