Robert J Weber, Christopher Kawaja, Robert Wallerstein, Sandeep M Kunwar, Chienying Liu
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引用次数: 0
摘要
我们介绍了一名经手术确诊为 CD 的患者,尽管皮质醇明显升高,但患者并没有完全的库欣样表型。排除了导致促肾上腺皮质激素和皮质醇升高的非病因,也排除了糖皮质激素受体基因的致病变异。对尿液代谢物、皮质醇半衰期和可的松与皮质醇转换比率的进一步研究显示,11β-羟类固醇脱氢酶 1 型(11β-HSD1)活性受损。在过去的二十年中,仅有两例关于 11β-HSD1 活性受损导致缺乏典型库欣样特征的报道。我们患者的表现和之前的报告都表明,11β-HSD1 在调节细胞内皮质醇浓度方面起着关键作用,因此可以保护外周组织免受过量皮质醇的影响。当患者出现皮质醇明显升高但无典型库欣样特征时,应在鉴别诊断中考虑 11β-HSD1 功能受损。
Impaired 11β-HSD1 Activity in a Male Patient With Cushing Disease Resulting in Lack of the Full Cushingoid Phenotype.
We present a patient who had surgically confirmed CD but without the full cushingoid phenotype despite markedly elevated cortisol. Nonpathologic causes of elevated ACTH and cortisol were eliminated as were pathogenic variants in the glucocorticoid receptor gene. Further studies of urine metabolites, cortisol half-life, and the ratios of cortisone to cortisol conversion revealed impaired 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) activity. There have only been 2 prior reports of impaired 11β-HSD1 resulting in lack of classic cushingoid features in the past 2 decades. Our patient's presentation and previous reports demonstrate the key role of 11β-HSD1 in modulating intracellular cortisol concentration, therefore shielding the peripheral tissues from the effects of excess cortisol. When patients present with markedly elevated cortisol but without classic cushingoid features, impaired 11β-HSD1 should be considered in the differential diagnosis.