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与肾上腺肿瘤相关的库欣综合征。

Cushing syndrome associated with an adrenal tumour.

作者信息

Vieira Helena, Brain Caroline

机构信息

Paediatric Department, Hospital de São Francisco Xavier, Lisbon, Portugal.

出版信息

BMJ Case Rep. 2012 Aug 27;2012:bcr2012006685. doi: 10.1136/bcr-2012-006685.

Abstract

Cushing syndrome (CS) in children is a rare disorder that is most frequently caused by an adrenal tumour or a pituitary corticotrophin-secreting adenoma. The management is challenging and requires an individualised approach and multidisciplinary care. We present the case of a 23-month-old female child with a history of excessive weight gain, growth failure, hirsutism, acne and behavioural difficulties. Investigations revealed elevated serum midnight cortisol and 24 h urinary free cortisol. Overnight dexamethasone suppression testing showed no suppression of cortisol levels. Abdominal imaging revealed a right-sided suprarenal mass. She underwent right adrenalectomy and the histology showed an adrenal cortical carcinoma. There was clinical improvement with catch-up growth and weight normalisation. Despite being rare in clinical practice, in a child with weight gain, hirsuitism and growth failure the diagnosis must be considered. The overall prognosis of CS in childhood is good, but challenges remain to ensure normal growth and body composition.

摘要

儿童库欣综合征(CS)是一种罕见疾病,最常见的病因是肾上腺肿瘤或垂体促肾上腺皮质激素分泌腺瘤。其治疗具有挑战性,需要个体化方法和多学科护理。我们报告一例23个月大女童,有体重过度增加、生长发育迟缓、多毛、痤疮及行为困难病史。检查发现午夜血清皮质醇和24小时尿游离皮质醇升高。过夜地塞米松抑制试验显示皮质醇水平未被抑制。腹部影像学检查发现右侧肾上腺肿块。她接受了右侧肾上腺切除术,组织学检查显示为肾上腺皮质癌。患儿出现追赶生长,体重恢复正常,临床症状改善。尽管在临床实践中罕见,但对于有体重增加、多毛和生长发育迟缓的儿童,必须考虑该诊断。儿童CS的总体预后良好,但在确保正常生长和身体组成方面仍存在挑战。

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Childhood Cushing disease: a challenge in diagnosis and management.儿童库欣病:诊断和治疗的挑战。
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Work-up and management of paediatric Cushing's syndrome.儿童库欣综合征的检查与管理
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Outcome of adrenocortical tumors in children.儿童肾上腺皮质肿瘤的转归
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