How early can one diagnose Cushing’s disease? An early diagnosis in a case of prepubertal Cushing’s disease
How early can one diagnose Cushing’s disease? An early diagnosis in a case of prepubertal Cushing’s disease
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多久可以诊断出库欣病？ 青春期前库欣病的早期诊断
DOI：
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发表时间：
2014
期刊：
影响因子：
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通讯作者：
R. Pfäffle
中科院分区：
文献类型：
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作者：
Julia Hoppmann;I. Wagner;Gudrun Junghans;S. Wudy;M. Buchfelder;F. Hirsch;L. Ritter;W. Kiess;R. Pfäffle
摘要背景：库欣病在儿童中非常罕见，并且诊断常常延迟数年。目的：我们报告一例青春期前库欣病病史仅 9 个月的病例。这个病例说明了在疾病早期诊断儿童的困难。病例介绍：一名 8 岁青春期前男孩出现体重快速增加，并伴有生长速度下降和多毛症。甲状腺功能检查和生长因子水平正常，因此排除甲状腺功能减退和生长激素缺乏症。库欣综合征通过 24 小时尿游离皮质醇水平升高、昼间皮质醇水平升高以及低剂量地塞米松抑制试验中缺乏皮质醇抑制来证实。进一步调查皮质醇增多症来源的测试显示以下结果： 早晨基础促肾上腺皮质激素 (ACTH) 正常。高剂量地塞米松抑制试验导致皮质醇水平下降 51%。在促肾上腺皮质激素释放激素（CRH）测试中，ACTH 和皮质醇仅增加了 28%。反复的磁共振成像（MRI）最终发现垂体前叶存在微腺瘤，从而确立了库欣病的诊断。确诊后，患者接受了经蝶手术。组织学分析证实为分泌 ACTH 的垂体腺瘤。结论：该病例说明了儿童库欣病的临床、生化和放射学诊断的困难。早期诊断仍然是一个挑战，因为测试结果通常与标准诊断标准不符。
Abstract Background: Cushing’s disease is very rare in children, and the diagnosis is frequently delayed by several years. Objective: We report a case of prepubertal Cushing’s disease with a medical history of only 9 months. This case illustrates the difficulties involved in diagnosing children at the early stage of the disease. Case presentation: An 8-year-old prepubertal boy presented with rapid weight gain accompanied by a decreasing growth velocity and hirsutism. Thyroid function tests and growth factor levels were normal, thus excluding hypothyroidism and growth hormone deficiency. Cushing’s syndrome was confirmed by elevated 24-h urinary free cortisol levels, increased diurnal cortisol levels, and a lack of cortisol suppression in the low-dose dexamethasone suppression test. Further tests to investigate the source of the hypercortisolism showed the following results: Basal morning adrenocorticotropic hormone (ACTH) was normal. The high-dose dexamethasone suppression test led to a 51% decrease in cortisol level. In the corticotropin-releasing hormone (CRH) test, ACTH and cortisol increased only by 28%. Repeated magnetic resonance imaging (MRI) finally revealed a microadenoma in the anterior pituitary, thus establishng the diagnosis of Cushing’s disease. Upon diagnosis, the patient underwent transsphenoidal surgery. Histological analysis confirmed an ACTH-secreting pituitary adenoma. Conclusion: This case illustrates the difficulties associated with the clinical, biochemical, and radiological diagnoses of Cushing’s disease in children. Early diagnosis remains a challenge because test results often do not match standard diagnostic criteria.