Weise Martina, Mehlinger Sarah L, Drinkard Bart, Rawson Erin, Charmandari Evangelia, Hiroi Mayumi, Eisenhofer Graeme, Yanovski Jack A, Chrousos George P, Merke Deborah P
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
J Clin Endocrinol Metab. 2004 Feb;89(2):591-7. doi: 10.1210/jc.2003-030634.
Classic congenital hyperplasia (CAH) is characterized by impaired adrenocortical function with a decrease in cortisol and aldosterone secretion and an increase in androgen secretion. Adrenomedullary function is also compromised due to developmental defects in the formation of the adrenal medulla, leading to decreased production of epinephrine. To examine the response to a natural stressful stimulus in patients with classic CAH, we studied hormonal, metabolic, and cardiorespiratory parameters in response to a standardized high-intensity exercise protocol in nine adolescent patients with CAH and nine healthy controls matched for gender, age, and percent body fat. The same relative workload was applied, based on individual maximal aerobic capacity, and all patients received their usual glucocorticoid and mineralocorticoid replacement. When compared with their normal counterparts, patients with CAH had significantly lower epinephrine levels both at baseline and at peak exercise (P < 0.01), whereas norepinephrine levels did not differ. Blood glucose concentrations were similar at baseline, but the normal exercise-induced rise observed in the healthy controls was significantly blunted in the CAH patients (P < 0.01). Peak heart rate was also lower in CAH patients than healthy controls (P < 0.05). As expected, the normal exercise-induced increase in cortisol was not observed in patients with CAH. No significant differences were found in serum levels of insulin, glucagon, GH, lactate and free fatty acids, blood pressure, or ability to sustain exercise between the two groups. Patients with CAH replaced with glucocorticoids have decreased adrenomedullary reserve and impaired exercise-induced changes in glucose but normal short-term high-intensity exercise performance. Whether the combination of epinephrine and cortisol deficiency poses a risk for hypoglycemia and/or decreased endurance during long-term physical stress has to be determined.
经典型先天性肾上腺皮质增生症（CAH）的特征是肾上腺皮质功能受损，皮质醇和醛固酮分泌减少，雄激素分泌增加。由于肾上腺髓质形成过程中的发育缺陷，肾上腺髓质功能也受到损害，导致肾上腺素分泌减少。为了研究经典型CAH患者对自然应激刺激的反应，我们在9例CAH青少年患者和9例性别、年龄及体脂百分比匹配的健康对照者中，研究了对标准化高强度运动方案的激素、代谢和心肺参数反应。基于个体最大有氧能力施加相同的相对工作量，所有患者均接受常规的糖皮质激素和盐皮质激素替代治疗。与正常对照者相比，CAH患者在基线和运动峰值时的肾上腺素水平均显著降低（P<0.01），而去甲肾上腺素水平无差异。两组在基线时血糖浓度相似，但健康对照者中观察到的正常运动诱导的血糖升高在CAH患者中明显减弱（P<0.01）。CAH患者的运动峰值心率也低于健康对照者（P<0.05）。正如预期的那样，CAH患者未观察到正常运动诱导的皮质醇增加。两组之间在胰岛素、胰高血糖素、生长激素、乳酸和游离脂肪酸的血清水平、血压或维持运动能力方面未发现显著差异。接受糖皮质激素替代治疗的CAH患者肾上腺髓质储备减少，运动诱导的血糖变化受损，但短期高强度运动表现正常。肾上腺素和皮质醇缺乏的联合作用是否会在长期身体应激期间导致低血糖和/或耐力下降，还有待确定。
