New M I, Stoner E, DiMartino-Nardi J
Clin Exp Hypertens A. 1986;8(4-5):751-72. doi: 10.3109/10641968609046592.
Cortisol 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) deficiency was observed in four patients with apparent mineralocorticoid excess. The 11 beta-HSD deficiency was demonstrated by a markedly decreased urinary tetrahydrocortisone/tetrahydrocortisol (THE/THF) ratio (less than 1 in normal children) during infusion of ACTH and administration of hydrocortisone. We propose that in these patients the 11 beta-HSD deficiency impairs the metabolism of cortisol to cortisone, resulting in a prolonged cortisol half-life, suppression of ACTH, and normal serum cortisol. The 11 beta-HSD deficiency protects the patient from adrenal insufficiency despite the low cortisol secretion; the prolonged half-life of cortisol may contribute to the hypertension and hyporeninemia observed in this disorder. Continuous intravenous hydrocortisone administration resulted in increased blood pressure and decreased serum potassium. Addition of spironolactone during continued administration of 20 mg per day of hydrocortisone resulted in a decrease in blood pressure and a rise in serum potassium. These studies suggest that an abnormality in cortisol action or metabolism results in cortisol behaving as a potent mineralocorticoid. These findings may account for this syndrome of apparent mineralocorticoid excess.
在4例明显盐皮质激素过多的患者中观察到皮质醇11β-羟类固醇脱氢酶（11β-HSD）缺乏。在输注促肾上腺皮质激素（ACTH）和给予氢化可的松期间，尿四氢皮质醇/四氢皮质酮（THE/THF）比值显著降低（正常儿童该比值大于1），证实存在11β-HSD缺乏。我们认为，在这些患者中，11β-HSD缺乏损害了皮质醇向可的松的代谢，导致皮质醇半衰期延长、ACTH受抑制以及血清皮质醇正常。尽管皮质醇分泌量低，但11β-HSD缺乏可保护患者不发生肾上腺功能不全；皮质醇半衰期延长可能是该疾病中观察到的高血压和低肾素血症的原因。持续静脉输注氢化可的松导致血压升高和血清钾降低。在每天持续给予20mg氢化可的松的过程中加用螺内酯，导致血压降低和血清钾升高。这些研究提示，皮质醇作用或代谢异常导致皮质醇表现为强效盐皮质激素。这些发现可能解释了明显盐皮质激素过多综合征。
