Robyn J A, Koch C A, Montalto J, Yong A, Warne G L, Batch J A
Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
J Paediatr Child Health. 1997 Dec;33(6):522-7. doi: 10.1111/j.1440-1754.1997.tb01663.x.
To review the diagnosis, management and outcome of Cushing's syndrome in children and adolescents.
We conducted a retrospective review of nine cases treated between 1976 and 1996 at the Royal Children's Hospital, Melbourne, Australia.
Six children with Cushing's disease and three with primary adrenal disease were identified. Mean age at diagnosis in the Cushing's disease patients was 11.3 years and in the children with primary adrenal disease 9.5 years. The most common presenting symptoms were weight gain and delayed growth. Two children had the unusual presenting symptoms of an eating disorder and hemihypertrophy, respectively. Laboratory diagnosis of Cushing's syndrome was established by demonstration of elevated urine free cortisol, loss of normal diurnal variation of serum cortisol, and loss of suppressibility of cortisol secretion by low dose dexamethasone. Investigations used to determine the aetiology of hypercortisolism included serum adrenocorticotropic hormone (ACTH) levels, high dose dexamethasone suppression tests, imaging studies, and inferior petrosal sinus sampling. Four patients with Cushing's disease had successful transphenoidal adenomectomies. Two patients with bilateral primary pigmented nodular adrenocortical dysplasia underwent bilateral adrenalectomies. One child with an adrenal adenoma was treated by left adrenalectomy.
Cushing's syndrome in children and adolescents remains a diagnostic challenge. Successful treatment often requires the use of multiple tests to achieve the correct diagnosis, appropriate surgery and a good long-term outcome.
回顾儿童及青少年库欣综合征的诊断、治疗及预后情况。
我们对1976年至1996年期间在澳大利亚墨尔本皇家儿童医院接受治疗的9例患者进行了回顾性研究。
确诊6例库欣病患儿和3例原发性肾上腺疾病患儿。库欣病患者的平均诊断年龄为11.3岁，原发性肾上腺疾病患儿为9.5岁。最常见的症状是体重增加和生长发育迟缓。两名患儿分别出现了饮食失调和半身肥大等不寻常的症状。通过检测尿游离皮质醇升高、血清皮质醇正常昼夜节律消失以及小剂量地塞米松抑制试验中皮质醇分泌抑制作用丧失来确立库欣综合征的实验室诊断。用于确定高皮质醇血症病因的检查包括血清促肾上腺皮质激素（ACTH）水平、大剂量地塞米松抑制试验、影像学检查以及岩下窦采血。4例库欣病患者经蝶窦腺瘤切除术成功。2例双侧原发性色素沉着性结节性肾上腺皮质增生患者接受了双侧肾上腺切除术。1例肾上腺腺瘤患儿接受了左肾上腺切除术。
儿童及青少年库欣综合征仍然是一个诊断难题。成功的治疗通常需要采用多种检查以实现正确诊断、进行恰当的手术并获得良好的长期预后。
