经典型21-羟化酶缺乏症患者的肾上腺髓质发育不全及功能减退

Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.

作者信息

Merke D P, Chrousos G P, Eisenhofer G, Weise M, Keil M F, Rogol A D, Van Wyk J J, Bornstein S R

机构信息

Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892-1932, USA.

出版信息

N Engl J Med. 2000 Nov 9;343(19):1362-8. doi: 10.1056/NEJM200011093431903.

DOI:10.1056/NEJM200011093431903

PMID:11070100

Abstract

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<0.05), and the values were lowest in the patients with the most severe deficits in cortisol production. Urinary epinephrine excretion and plasma epinephrine concentrations were at or below the limit of detection of the assay in 8 (21 percent) of the patients with congenital adrenal hyperplasia and in 19 (95 percent) of the patients who had undergone adrenalectomy. In the group of patients with congenital adrenal hyperplasia, plasma epinephrine and metanephrine concentrations and urinary epinephrine excretion were approximately 50 percent lower in those who had been hospitalized for adrenal crises than in those who had not. In three patients with congenital adrenal hyperplasia who had undergone bilateral adrenalectomy, the formation of the adrenal medulla was incomplete, and electron-microscopical studies revealed a depletion of secretory vesicles in chromaffin cells.

CONCLUSIONS

Congenital adrenal hyperplasia compromises both the development and the functioning of the adrenomedullary system.

摘要

背景

糖皮质激素对于肾上腺髓质的正常发育和功能至关重要。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。

方法

我们测量了38例因21-羟化酶缺乏导致先天性肾上腺皮质增生症的儿童（25例失盐型和13例单纯男性化型）、39例年龄匹配的正常受试者以及20例接受双侧肾上腺切除术的患者的血浆和尿儿茶酚胺以及血浆甲氧基肾上腺素。对另外3例接受双侧肾上腺切除术的21-羟化酶缺乏患者的肾上腺标本以及另外8例尸检患者的标本进行了组织学检查。

结果

先天性肾上腺皮质增生症患者的血浆肾上腺素和甲氧基肾上腺素浓度以及尿肾上腺素排泄量比正常受试者低40%至80%（P<0.05），在皮质醇分泌严重不足的患者中这些值最低。8例（21%）先天性肾上腺皮质增生症患者以及19例（95%）接受肾上腺切除术的患者的尿肾上腺素排泄量和血浆肾上腺素浓度处于或低于检测方法的检测限。在先天性肾上腺皮质增生症患者组中，因肾上腺危象住院的患者的血浆肾上腺素和甲氧基肾上腺素浓度以及尿肾上腺素排泄量比未住院的患者低约50%。在3例接受双侧肾上腺切除术的先天性肾上腺皮质增生症患者中，肾上腺髓质的形成不完整，电子显微镜研究显示嗜铬细胞中的分泌囊泡减少。