Hoppmann Julia, Wagner Isabel V, Junghans Gudrun, Wudy Stefan A, Buchfelder Michael, Hirsch Franz W, Ritter Lutz, Kiess Wieland, Pfäffle Roland
J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1043-7. doi: 10.1515/jpem-2014-0230.
Cushing's disease is very rare in children, and the diagnosis is frequently delayed by several years.
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.
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.
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.
库欣病在儿童中非常罕见，诊断常常延误数年。
我们报告一例青春期前库欣病病例，其病史仅9个月。该病例说明了在疾病早期诊断儿童库欣病所涉及的困难。
一名8岁青春期前男孩出现体重快速增加，同时生长速度减慢和多毛症。甲状腺功能测试和生长因子水平正常，从而排除了甲状腺功能减退和生长激素缺乏症。24小时尿游离皮质醇水平升高、昼夜皮质醇水平增加以及低剂量地塞米松抑制试验中皮质醇无抑制，证实了库欣综合征。进一步检查高皮质醇血症的来源，结果如下：基础晨促肾上腺皮质激素（ACTH）正常。高剂量地塞米松抑制试验使皮质醇水平下降了51%。在促肾上腺皮质激素释放激素（CRH）试验中，ACTH和皮质醇仅增加了28%。反复的磁共振成像（MRI）最终在前垂体发现了一个微腺瘤，从而确立了库欣病的诊断。确诊后，患者接受了经蝶窦手术。组织学分析证实为分泌ACTH的垂体腺瘤。
该病例说明了儿童库欣病在临床、生化和放射学诊断方面的困难。早期诊断仍然是一项挑战，因为检测结果往往不符合标准诊断标准。
