Connell A M, Kabadi U M
Division of Endocrinology and Metabolism, Department of Internal Medicine, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.
Endocr Pract. 2000 Sep-Oct;6(5):375-8. doi: 10.4158/EP.6.5.375.
To highlight the vague symptoms of isolated adrenocorticotropic hormone (ACTH) deficiency and suggest helpful diagnostic tests and appropriate management.
We present a detailed case report, including clinical and laboratory findings, and discuss the diagnostic approach to this rare disorder of isolated ACTH deficiency.
A 74-year-old woman had persistent severe nausea and other vague symptoms. Elaborate testing during a period of several weeks failed to determine the cause. Ultimately, isolated ACTH deficiency was diagnosed after documentation of subnormal random serum cortisol and ACTH levels as well as urinary free cortisol concentrations. Moreover, the nausea and other symptoms abated after administration of glucocorticoid. The patient was then maintained on orally administered dexamethasone, 0.5 mg twice daily, for 4 to 6 weeks, at which time the diagnosis was confirmed by a subnormal cortisol response on cosyntropin stimulation testing and an unmeasurable ACTH level after overnight oral administration of metyrapone. Although the cause of this patient's isolated ACTH deficiency remained undetermined, it was thought to be autoimmune in nature because of the presence of Graves' disease.
This report emphasizes the need for recognition of symptoms, appropriate testing to confirm the diagnosis, and prompt treatment with glucocorticoids in patients with isolated ACTH deficiency.
强调孤立性促肾上腺皮质激素（ACTH）缺乏的模糊症状，并提出有用的诊断测试及适当的治疗方法。
我们呈现一份详细的病例报告，包括临床和实验室检查结果，并讨论针对这种罕见的孤立性ACTH缺乏症的诊断方法。
一名74岁女性持续出现严重恶心及其他模糊症状。在数周内进行了详尽检查，但未能确定病因。最终，在记录到随机血清皮质醇和ACTH水平低于正常以及尿游离皮质醇浓度后，诊断为孤立性ACTH缺乏。此外，给予糖皮质激素后恶心及其他症状减轻。随后患者口服地塞米松，每日两次，每次0.5毫克，持续4至6周，此时通过促肾上腺皮质激素刺激试验中皮质醇反应低于正常以及隔夜口服甲吡酮后ACTH水平无法测得，确诊了该疾病。尽管该患者孤立性ACTH缺乏的病因仍未明确，但由于存在格雷夫斯病，推测其本质为自身免疫性。
本报告强调对于孤立性ACTH缺乏症患者，需认识其症状、进行适当检查以确诊，并及时给予糖皮质激素治疗。
