Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.
Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.
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DOI：
10.1056/nejm200011093431903
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发表时间：
2000-11-09
影响因子：
158.5
通讯作者：
Bornstein, SR
中科院分区：
文献类型：
--
作者：
Merke, DP;Chrousos, GP;Bornstein, SR
背景：糖皮质激素对肾上腺髓质的正常发育和功能是必不可少的。先天性肾上腺皮质增生症患者的肾上腺髓质结构和功能是否正常尚不清楚。我们测定了38例因21-羟化酶缺乏引起的先天性肾上腺皮质增生症患儿的血浆和尿中儿茶酚胺及血浆变肾上腺素（25名盐耗型儿童和13名单纯男性化型儿童），39名年龄匹配的正常受试者，双侧肾上腺切除术20例。对3例21-羟化酶缺乏症患者行双侧肾上腺切除术后的肾上腺标本和8例尸检标本进行组织学检查。结果：先天性肾上腺增生症患者血浆肾上腺素、间质肾上腺素浓度和尿肾上腺素排泄量较正常人低40 ~ 80%（P < 0.01），尿肾上腺素排泄量较正常人低40 ~ 80%（P < 0.01）。
Background: Glucocorticoids are essential for the normal development and functioning of the adrenal medulla. Whether adrenomedullary structure and function are normal in patients with congenital adrenal hyperplasia is not known.Methods: We measured plasma and urinary catecholamines and plasma metanephrines in 38 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (25 children with the salt-wasting form and 13 with the simple virilizing form), 39 age-matched normal subjects, and 20 patients who had undergone bilateral adrenalectomy. Adrenal specimens obtained from three other patients with 21-hydroxylase deficiency who had undergone bilateral adrenalectomy and specimens obtained at autopsy from eight other patients were examined histologically.Results: Plasma epinephrine and metanephrine concentrations and urinary epinephrine excretion were 40 to 80 percent lower in the patients with congenital adrenal hyperplasia than in the normal subjects (P