Clinical Endocrinology Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892-4320, USA.
J Clin Endocrinol Metab. 2010 Apr;95(4):1508-15. doi: 10.1210/jc.2009-2321. Epub 2010 Feb 15.
Cushing syndrome (CS) is a rare but potentially fatal feature of McCune-Albright syndrome (MAS). Optimal management, prognostic features, and long-term follow-up of this disorder have not been described.
The study was conducted at an academic tertiary care center.
A total of 112 patients participating in a natural history study at the National Institutes of Health (NIH) were evaluated, and 21 published cases were reviewed.
Subjects received observation, medical management, or bilateral adrenalectomy.
We measured prevalence, prognostic factors, and natural history.
The prevalence of CS among NIH patients was 7.1%. The median age at diagnosis was 3 months. Clinical features included "Cushingoid facies" (66.7%), failure to thrive (60.0%), low birth weight (50.0%), liver disease (36.7%), and heart disease (26.7%). Six patients (20.0%) died, four after adrenalectomy. Death was more likely in patients with comorbid heart disease (odds ratio, 13.3; P < 0.05). Of 23 survivors, 13 underwent adrenalectomy, and 10 exhibited spontaneous resolution. Two patients with spontaneous resolution who were tested later in life (3 and 15 yr after resolution) continued to have low-level, autonomous adrenal function with biochemical adrenal insufficiency. Compared to MAS patients without CS, patients with CS were more likely to have a cognitive/developmental disorder (44.4 vs. 4.8%; P < 0.001; odds ratio, 8.8).
Comorbid heart and liver disease were poor prognostic markers and may indicate the need for prompt adrenalectomy. The high incidence of cognitive disorders indicates a need for close developmental follow-up and parental counseling. Patients with spontaneous resolution of CS may develop adrenal insufficiency, and they require long-term monitoring.
库欣综合征（CS）是 McCune-Albright 综合征（MAS）的罕见但潜在致命特征。尚未描述该疾病的最佳治疗方法、预后特征和长期随访。
该研究在学术性三级保健中心进行。
共有 112 名参与美国国立卫生研究院（NIH）自然史研究的患者接受了评估，并回顾了 21 例已发表的病例。
患者接受观察、药物治疗或双侧肾上腺切除术。
我们测量了患病率、预后因素和自然病史。
NIH 患者 CS 的患病率为 7.1%。诊断时的中位年龄为 3 个月。临床特征包括“库欣样面容”（66.7%）、生长不良（60.0%）、低出生体重（50.0%）、肝脏疾病（36.7%）和心脏疾病（26.7%）。6 名患者（20.0%）死亡，其中 4 名在肾上腺切除术后死亡。合并心脏疾病的患者死亡风险更高（比值比，13.3；P < 0.05）。23 名幸存者中，13 名接受了肾上腺切除术，10 名自发缓解。2 名自发缓解的患者在以后的生活中（缓解后 3 年和 15 年）接受了测试，他们仍然存在低水平的自主肾上腺功能和生化性肾上腺功能不全。与无 CS 的 MAS 患者相比，CS 患者更可能患有认知/发育障碍（44.4%对 4.8%；P < 0.001；比值比，8.8）。
合并的心脏和肝脏疾病是不良预后标志物，可能表明需要及时进行肾上腺切除术。认知障碍的高发生率表明需要密切的发育随访和家长咨询。CS 自发缓解的患者可能发生肾上腺功能不全，需要长期监测。
