Decreased Adrenomedullary Function in Infants With Classical Congenital Adrenal Hyperplasia
Decreased Adrenomedullary Function in Infants With Classical Congenital Adrenal Hyperplasia
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DOI：
10.1210/jc.2014-1274
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发表时间：
2014-08-01
影响因子：
5.8
通讯作者：
Geffner, Mitchell E.
中科院分区：
文献类型：
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作者：
Kim, Mimi S.;Ryabets-Lienhard, Anna;Geffner, Mitchell E.
背景：由21-羟基酶缺乏引起的典型先天性肾上腺增生症(CAH)可导致危及生命的肾上腺危象和严重的低血糖，特别是在非常年幼的儿童。对4岁或4岁以上的CAH患者的研究发现，与对照组相比，肾上腺髓质的形态和功能异常，肾上腺素和葡萄糖水平降低。目的：本研究的目的是通过比较CAH婴儿和对照组的儿茶酚胺水平来研究CAH婴儿的肾上腺髓质功能。设计/背景：这是一项在儿科三级护理中心进行的前瞻性横断面研究。主要观察指标：血浆肾上腺素和去甲肾上腺素水平由HPLC测定。结果：CAH婴儿(n=9，年龄9.6±11.4d)肾上腺素水平显著低于对照组[n=12，9.6±11.4d]年龄7.2+/-3.2 d：中位数84[(25；第75位)51；87]分别为114.5(86；175.8)pg/mL(P=0.02)]。CAH患者的去甲肾上腺素/肾上腺素比率也显著高于对照组(P=0.01)。对照组婴儿存在原发性甲状腺功能减退，但治疗前后的分析未发现儿茶酚胺水平的混杂影响。结论：本研究首次证实21-羟基酶缺乏所致的经典型CAH患儿血浆肾上腺素水平显著低于对照组，提示肾上腺髓质功能受损可能发生在胎儿发育过程中，并从出生起就存在。有必要对CAH患者从婴儿期到儿童早期的肾上腺髓质功能进行纵向研究。
Context: Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can cause life-threatening adrenal crises as well as severe hypoglycemia, especially in very young children. Studies of CAH patients 4 years old or older have found abnormal morphology and function of the adrenal medulla and lower levels of epinephrine and glucose in response to stress than in controls. However, it is unknown whether such adrenomedullary abnormalities develop in utero and/or exist during the clinically high-risk period of infancy and early childhood.Objective: The objective of the study was to characterize adrenomedullary function in infants with CAH by comparing their catecholamine levels with controls.Design/Settings: This was a prospective cross-sectional study in a pediatric tertiary care center.Main Outcome Measures: Plasma epinephrine and norepinephrine levels were measured by HPLC.Results: Infants with CAH (n = 9, aged 9.6 +/- 11.4 d) had significantly lower epinephrine levels than controls [n = 12, aged 7.2 +/- 3.2 d: median 84 [(25th; 75th) 51; 87] vs 114.5 (86; 175.8) pg/mL, respectively (P = .02)]. Norepinephrine to epinephrine ratios were also significantly higher in CAH patients than controls (P = .01). The control infants had primary hypothyroidism, but pre-and posttreatment analyses revealed no confounding effects on catecholamine levels.Conclusions: This study demonstrates for the first time that infants with classical CAH due to 21-hydroxylase deficiency have significantly lower plasma epinephrine levels than controls, indicating that impaired adrenomedullary function may occur during fetal development and be present from birth. A longitudinal study of adrenomedullary function in CAH patients from infancy through early childhood is warranted.