不同定位方法在异位ACTH综合征诊断中的应用

目的研究不同定位方法在异位促肾上腺皮质激素（ACTH）综合征诊断中的应用。方法回顾性分析我院2000-2010年确诊的20例异位ACTH综合征患者的临床资料。结果⑴8例行BIPSS,7例IPS/P〈2、1例IPS/P〉2,假阳性率为12.5%;⑵15例通过胸片、胸腹部CT等常规检查发现原发病灶;⑶8例根据不同部位外周静脉血ACTH水平帮助定位,阳性率低。结论双侧岩下窦静脉取血（BIPSS）IPS/P〉2不能完全除外异位ACTH综合征;胸片、胸腹部CT能发现大多数原发病灶;外周静脉分段取血测定ACTH水平对定位诊断帮助不大,应综合各项检查手段的优势以提高异位ACTH综合征定位诊断的阳性率。     

岩下窦静脉取血诊断疑难库欣综合征准确率高

健康报载：北京协和医院采用双侧岩下窦静脉取血（IPSS）技术,诊断疑难促肾上腺皮质激素（ACTH）依赖性库欣综合征,使其阳性检出率大幅提升,敏感性和特异性分别达到93％和100％。专家认为,该项技术为疑难库欣综合征患者最终选择正确的治疗方案提供了可靠依据。     

18F-脱氧葡萄糖正电子发射计算机断层显像在库欣病诊断和术前定位中的价值

目的 评价18F-脱氧葡萄糖(<'18>FDG)正电子发射计算机断层显像 (PET)/CT在库欣病定性和定位诊断中的价值.方法 12 例经口鼻蝶窦垂体腺瘤切除后病理证实为库欣病患者,术前行<'18> FDG PET/CT躯干和脑显像,同期行鞍区核磁共振成像 (MRI)和奥曲肽全身显像,6例行岩下窦静脉取血 (IPSS).结果 12 例PET/CT 躯干显像均未见异常,脑显像对垂体病变诊断的阳性率为91.6%(11/12),MRI对垂体病变诊断的阳性率为66.7%(8/12),6例IPSS 中5例定位为垂体,定侧准确率为50%(3/6).结论 <'18>FDG PET/CT躯干显像可协助除外异位促肾上腺皮质激素综合征,而脑显像对库欣病定位的准确率明显高于MRI,尤其对MRI检查阴性和IPSS无法定位患者的术前诊断有重要意义.     

探讨外周DDAVP刺激试验联合HDDST在库欣病与异位ACTH综合征鉴别诊断中的价值

背景 促肾上腺皮质激素(adrenocorticotropic hormone,ACTH)依赖性库欣综合征的常见病因为库欣病(Cushing's disease,CD)和异位ACTH综合征(ectopic ACTH syndrome,EAS),岩下窦静脉分段采血(bilateral inferior petrosal sinus sampling,BIPSS)是鉴别两者的金标准,但因其有创性和技术要求高难以临床广泛开展,而大剂量地塞米松抑制试验(high-dose dexamethasone suppression test,HDDST)及外周血1-去氨基-8-D-精氨酸血管加压素(desmopressin,DDAVP)刺激试验操作较为简单,可广泛开展.目的 探讨外周血DDAVP刺激试验联合HDDST鉴别诊断库欣病和异位ACTH综合征的价值.方法 回顾性分析2016年1月-2019年12月在解放军总医院第一医学中心内分泌科经术后病理、临床指标、BIPSS确诊的ACTH依赖性库欣综合征病例的临床资料,分析患者血ACTH-皮质醇节律、24 h尿游离皮质醇(24 h urinary free cortisol,24 h UFC)、外周DDAVP刺激试验后血ACTH及血皮质醇变化和HDDST后血、尿皮质醇变化,探讨外周DDAVP刺激试验和(或)经典HDDST不同切点鉴别诊断CD与EAS的敏感度和特异性.结果 119例ACTH依赖性库欣综合征患者中,CD 105例,男性10例,女性95例,平均年龄(38.20±12.52)岁;EAS 14例,男性8例,女性6例,平均年龄(44.86±17.17)岁.以外周DDAVP刺激试验后血ACTH升高幅度≥35％为切点,鉴别诊断CD与EAS的敏感度和特异性分别为97.9％和55.6％;以经典HDDST血和尿皮质醇抑制率均度≥50％为切点,鉴别CD与EAS的敏感度和特异性分别为62.0％和90.0％;联合外周DDAVP刺激试验血ACTH升高≥35％和HDDST试验血皮质醇(或尿游离皮质醇)抑制率≥50％为切点,鉴别ACTH依赖性库欣综合征的敏感度和特异性分别为73.3％和87.5％.结论 以外周DDAVP刺激试验作为ACTH依赖性库欣综合征的定位试验,敏感度较高,但特异性较低;以HDDST作为ACTH依赖性库欣综合征的定位试验,敏感度较低,但特异性较高;两个试验联合诊断,可提高鉴别库欣病和异位ACTH综合征的诊断效能.     

静脉导管取血皮质醇测定用于Cushing综合征的定位诊断

借鉴原发性醛固酮增多症的定位诊断方法,对12例Cushing综合征患者应用静脉导管分段取血测定皮质醇浓度,以双侧肾静脉皮质醇浓度差及左肾上腺静脉与下腔静脉皮质醇浓度比值为指标进行定位诊断,其中11例得到了手术及病理证实。结果表明,静脉导管分段取血测定皮质醇浓度,对Cushing综合征的定位诊断符合率高于CT扫描及B超检查。     

库欣综合征3种不同类型病例诊治思考

目的 总结不同类型库欣综合征的临床特点,以供临床医生借鉴.方法 分析3例库欣综合征患者(其中库欣病1例,异位ACTH综合征1例,肾上腺腺瘤1例)的临床特征、实验室及影像学检查特点.结果 3例患者均存在血皮质醇节律消失和尿游离皮质醇升高.库欣病和异位ACTH综合征患者血ACTH水平升高, 影像学检查分别发现垂体微腺瘤和左下肺占位病变(术后病理为类癌);肾上腺腺瘤患者血ACTH水平降低;大剂量地塞米松抑制试验在库欣病患者可抑制,在异位ACTH综合征和肾上腺腺瘤患者不被抑制.结论 不同类型库欣综合征有其不同临床特点,对此种疾病有充分的了解,可以帮助及早诊断和治疗.     

儿童和青春期垂体促肾上腺皮质激素微腺瘤的诊断和治疗

目的 探讨儿童和青春期垂体促肾上腺皮质激素(ACTH)微腺瘤的诊断和治疗方法.方法 回顾性分析10例儿童和青春期垂体ACTH微腺瘤患者的病例资料,根据临床症状、生物化学检查和影像学检查结果进行诊断,其中5例行双侧岩下静脉窦采血(BIPSS).所有患者均在显微镜下行经蝶垂体腺瘤切除术;术后肿瘤标本行免疫组织化学检查.结果 术后免疫组织化学检查示ACTH阳性8例,阴性2例.随访12-63个月,治愈7例(70%),缓解1例(10%),复发2例(20%).结论 BIPSS有助于儿童和青春期垂体ACTH微腺瘤的诊断和肿瘤定位;经蝶垂体腺瘤切除术是儿童和青春期垂体ACTH微腺瘤的首选治疗方法.     

库欣综合征中2 mg地塞米松抑制试验两种诊断标准的准确性研究

目的 评价2 mg地塞米松抑制试验(DST)以血清皮质醇水平或抑制率为切点诊断库欣综合征的准确性.方法 收集经手术后病理学检查明确病因的163例库欣综合征患者的临床资料.回顾并记录患者基础8:00血清皮质醇水平及2 mg DST后血清皮质醇绝对值,计算抑制率.分别以血清皮质醇绝对值和抑制率作为2 mg DST对库欣综合征的诊断切点,分析两者与患者术后病理学诊断的符合率,评价诊断的准确性.结果 经术后病理学检查证实,163例库欣综合征患者中库欣病94例,肾上腺皮质瘤63例,异位促肾上腺皮质激素(ACTH)综合征6例.以2 mg DST后血清皮质醇>5μg/dL为切点,诊断库欣病88例,肾上腺皮质瘤63例,异位ACTH综合征6例,与病理学诊断的符合率为96.3%;以2 mg DST后抑制率<50%为切点,诊断库欣病68例,肾上腺皮质瘤63例,异位ACTH综合征6例,与病理学诊断的符合率为84.0%.结论 与2 mg DST后抑制率<50%相比,以血清皮质醇>5 μg/dL为切点诊断库欣综合征的准确性更高.     

胃肠胰腺神经内分泌肿瘤诊断与治疗进展

异位ACTH综合征是Cushing综合征的一种特殊类型，是由于垂体以外的肿痛组织分泌过量有生物活性的促肾上腺皮质激素（ACTH），刺激肾上腺皮质增生，产生过量皮质类固醇引起的临床综合征，约占Cushing综合征总数的5％～10％。国外文献报道最多见病因为肺部或支气管肿瘤，约占50％。国内报道的异位ACTH综合征则由胸腺类癌、支气管类癌等所致者较多。目前，异位ACTH综合征的肿瘤定位非常困难，使得临床诊断和治疗不能有效实施．     

库欣综合征23例临床分析

目的 探讨库欣综合征的临床特点.方法 回顾性分析23例库欣综合征患者的临床资料.结果 23例患者中男6例,女17例;≤40岁20例(87％).疾病分类为促肾上腺皮质素(ACTH)依赖性库欣综合征8例,其中库欣病(ACTH依赖性肾上腺皮质增生)7例,异位ACTH综合征1例;非ACTH依赖性库欣综合征15例,其中腺瘤10例,腺癌3例,非ACTH依赖性大结节性肾上腺皮质增生(AIMAH)2例.均行手术治疗,7例库欣病患者除1例术后30个月复发外,余6例术后临床症状缓解;10例腺瘤患者术后痊愈,3例腺癌患者术后血钾恢复正常,血压、血皮质醇有所下降.1例异位ACTH综合征患者及2例AIMAH患者各项指标恢复正常.结论 不同类型的库欣综合征患者主要临床表现及生化指标有差异,大部分通过手术治疗可以缓解症状.     

Value of computed tomography of the abdomen and chest in investigation of Cushing's syndrome

Computed tomography (CT) scans were performed on 37 patients with biochemically proved Cushing's syndrome to evaluate the role of CT in the investigation of this condition. CT rapidly and correctly identified all 15 adrenocortical tumours, distinguishing five carcinomas from the 10 adenomas. In ACTH-dependent Cushing's syndrome appreciable bilateral adrenal enlargement was common in patients with an ectopic source (6 of 10 cases), while those with a pituitary source usually had normal sized adrenals (9 of 10). Two patients with a history of over seven years had bilateral adrenal nodules. CT was more accurate in locating a primary ectopic source of ACTH (5 of 12 cases) than any other technique and was particularly valuable in detecting small (less than 1.5 cm) peripheral lung carcinoid tumours which may be undetectable by conventional x-ray techniques. Its speed, accuracy, and simplicity make CT the technique of choice both to show the adrenal anatomy and to locate a suspected ectopic ACTH-secreting tumour in patients with proved Cushing's syndrome.     

Ectopic ACTH-secreting syndrome: a single center experience report with a high prevalence of occult tumor

BACKGROUND: Differentiation between the two forms of ACTH-dependent Cushing's syndrome is a challenging task. Although the majority of these cases will be diagnosed as Cushing's disease secondary to an ACTH-secreting pituitary adenoma, 10-15% result from the ectopic ACTH secretion syndrome (EAS), which is usually due to neuroendocrine tumors. In the present study we report our experience with EAS in eight patients evaluated and treated during the past 10 years. METHODS: Our experience in the evaluation and management of EAS was retrospectively reviewed. The latter included a standard biochemical assessment (urinary free cortisol, low- and high-dose dexamethasone suppression tests), petrosal sinus sampling when indicated and imaging techniques such as pituitary MRI, total body CT and somatostatin receptor scintigraphy. RESULTS: The ectopic nature of the ACTH hypersecretion was confirmed with inferior petrosal sinus samplings in all cases. CT scanning localized a putative tumor in 6/8 patients, whereas octreotide scintigraphy was positive in only five. In all cases, the source was traced to the lungs. However, upon performing thoracotomy, a documented ACTH-secreting bronchial carcinoid tumor was found in only four patients. Thus, 4/8 patients with EAS remained "occult." All of these patients underwent adrenalectomy for hypercortisolism control. CONCLUSIONS: EAS is a rare cause of ACTH-dependent Cushing's syndrome. Truly "occult" tumors were frequent and these patients need to be under close surveillance for the detection of neuroendocrine tumors.     

Petrosal sinus sampling in the diagnosis of Cushing's syndrome: preliminary experience in University of Malaya Medical Centre

Differentiating between Cushing's disease of pituitary origin and ectopic ACTH syndrome of extra-pituitary origin remains a major challenge to the clinician because of limitations in the diagnostic accuracy of the high-dose dexamethasone suppression test. Routine use of inferior petrosal sinus sampling (IPSS) is therefore advocated by some authors for these patients. We present our preliminary experience of IPSS in 7 consecutive patients with Cushing's disease and discuss how the results impacted on the patients' management.     

外周去氨加压素兴奋试验与大剂量地塞米松抑制试验在库欣病中的诊断价值研究

背景　库欣综合征（CS）临床表现复杂,在CS的病因诊断中,库欣病（CD）和异位促肾上腺皮质激素（ACTH）综合征（EAS）难以鉴别诊断。而双侧岩下窦静脉采血（BIPSS）目前是鉴别诊断CD和EAS的金标准,但其在大多数医院无法开展。目前临床通常用大剂量地塞米松抑制试验（HDDST）诊断CD,但其灵敏度较低;有研究证明去氨加压素（DDAVP）具有促肾上腺皮质激素释放激素（CRH）样作用,其可促进垂体ACTH肿瘤分泌ACTH。目的　探究外周DDAVP兴奋试验与HDDST在CD中的诊断价值。方法　回顾性选取2015-01-01至2018-08-30于中国人民解放军总医院明确诊断为ACTH依赖性CS的患者72例为研究对象。收集患者一般资料及外周DDAVP兴奋试验、HDDST结果。计算DDAVP兴奋试验、HDDST诊断CD的灵敏度、特异度。结果　72例ACTH依赖性CS患者中,CD 64例,EAS 8例。有63例ACTH依赖性CS患者进行了外周DDAVP兴奋试验（其中CD 55例,EAS 8例）,其余9例予以剔除;外周DDAVP兴奋试验阳性51例,阴性12例;外周DDAVP兴奋试验诊断CD的灵敏度为92.7%,特异度为100.0%。72例ACTH依赖性CS患者中,HDDST阳性43例,阴性29例;HDDST诊断CD的灵敏度为67.2%,特异度为100.0%。同时行外周DDAVP兴奋试验与HDDST的63例患者中,外周DDAVP兴奋试验与HDDST同时阳性38例（均为CD患者）,外周DDAVP兴奋试验与HDDST同时阴性9例（8例为EAS患者）,外周DDAVP兴奋试验阳性、HDDST阴性16例,外周DDAVP兴奋试验阴性、HDDST阳性0例。同时行外周DDAVP兴奋试验与HDDST的55例CD患者中,外周DDAVP兴奋试验与HDDST同时阳性38例,外周DDAVP兴奋试验与HDDST同时阴性1例,外周DDAVP兴奋试验阳性、HDDST阴性16例,外周DDAVP兴奋试验阴性、HDDST阳性0例。结论　外周DDAVP兴奋试验对CD有较高的诊断价值,临床中疑似CD患者HDDST为阴性时,进一步行外周DDAVP兴奋试验可明显降低漏诊率。     

Severe hypertension secondary to renal artery stenosis and Cushing's syndrome

We present an unusual patient who simultaneously had severe renal artery stenosis RAS and Cushing's syndrome. The case highlights the difficulty of reaching a specific diagnosis of Cushing's syndrome and the possible interaction between Cushing's syndrome and some other concurrent illnesses that this patient had. A 37-year old man presented with severe hypertension HTN and uncontrolled diabetes mellitus DM without clear physical signs of Cushing's syndrome. He was found to have severe osteoporosis, proximal myopathy, several cutaneous warts, tinea versicolor, and chronic viral hepatitis. Captopril-stimulated renal scan and renal artery angiogram revealed severe RAS. Partial balloon dilatation of RAS led to improvement in HTN. Unexpectedly, urine free cortisol 24 hour was found extremely high. Serum adrenocorticotropic hormone ACTH was also elevated and high dose dexamethasone suppression tests were inconclusive. Several imaging studies failed to localize the source of ACTH. Despite normal MRI of the pituitary gland, bilateral inferior petrosal sinus sampling IPSS localized the source of ACTH secretion to the right side of the pituitary gland and right anterior hemihypophysectomy resulted in cure of Cushing's disease, HTN, DM, and tinea versicolor with significant improvement in cutaneous warts, osteoporosis, and chronic hepatitis. In conclusion, RAS and Cushing's syndrome may occur together. Significant hypercortisolemia can occur without clear signs of Cushing's syndrome. Controlling hypercortisolemia is of paramount importance when treating chronic infections in patients with Cushing's syndrome.     

Experience with selective venous sampling in diagnosis of ACTH-dependent Cushing's syndrome

Twenty-three patients with adrenocorticotrophic hormone-(ACTH)-dependent Cushing's syndrome were subjected to selective venous catheterisation and sampling for ACTH on a total of 26 occasions. Out of 10 patients with pituitary-dependent disease, nine had raised ACTH concentrations in one or both high internal jugular vein samples. Eight patients had 11 proved sites of ectopic hormone production: of these, six were correctly identified by the sampling technique, and in four of them this was the only accurate method of localisation. The results of one catheterisation were misleading, and on 10 occasions they were inconclusive; five patients remained undiagnosed by any method. Overall, 15 of the 26 catheterisations provided diagnostically valuable information. Selective venous catheterisation and sampling for ACTH is effective in confirming a pituitary source of the hormone and may be valuable in locating the source of ectopic ACTH production in some cases.     

MJA Practice Essentials--Endocrinology. 9: Pituitary disease in adults

Pituitary adenomas are found in 10%-25% of unselected autopsy series and are evident in about 10% of asymptomatic individuals by magnetic resonance imaging. Diagnosis of pituitary disorders is often delayed by lack of awareness and the subtlety of symptoms and signs. Hypopituitarism is suspected when peripheral hormone concentrations are low without an elevation in the corresponding pituitary tropic hormone(s). Severe adult-onset growth-hormone deficiency results in reduced muscle mass, increased fat mass and diminished quality of life, which are reversed by growth hormone replacement therapy. While trans-sphenoidal surgery remains first-line treatment for acromegaly, drug treatment has an important role in controlling residual growth-hormone excess and, in some circumstances, as first-line treatment. Dopamine-agonist therapy (cabergoline or bromocriptine) is the treatment of choice for micro- and macroprolactinomas. In patients with suggestive clinical features, elevated 24-hour urine free cortisol level is usually sufficient to diagnose endogenous Cushing's syndrome; careful additional investigation is needed to determine whether the cause is Cushing's disease (pituitary adenoma secreting adrenocorticotropic hormone [ACTH]), ectopic ACTH secretion or adrenal disease. Heightened awareness is needed to detect the sometimes subtle symptoms and signs of pituitary disease     

Six year remission of ACTH-dependent Cushing's syndrome using bromocriptine

A patient with ACTH-dependent Cushing's syndrome remained in clinical and biochemical remission six years after pituitary irradiation and while on bromocriptine therapy. When bromocriptine was discontinued urinary free cortisol values became elevated, and were not suppressed by dexamethasone. After reintroduction of the drug, remission was again obtained. It is concluded that bromocriptine is responsible for continuing longterm remission in this case. The possible use of bromocriptine as an adjunctive therapy in ACTH-dependent Cushing's syndrome is discussed.     

库欣综合征中2mg地塞米松抑制试验两种诊断标准的准确性研究

目的评价2mg地塞米松抑制试验（DST）以血清皮质醇水平或抑制率为切点诊断库欣综合征的准确性。方法收集经手术后病理学检查明确病因的163例库欣综合征患者的临床资料。回顾并记录患者基础8：00血清皮质醇水平及2mgDST后血清皮质醇绝对值,计算抑制率。分别以血清皮质醇绝对值和抑制率作为2mgDST对库欣综合征的诊断切点,分析两者与患者术后病理学诊断的符合率,评价诊断的准确性。结果经术后病理学检查证实,163例库欣综合征患者中库欣病94例,肾上腺皮质瘤63例,异位促肾上腺皮质激素（ACTH）综合征6例。以2mgDST后血清皮质醇〉5μg/dL为切点,诊断库欣病88例,肾上腺皮质瘤63例,异位ACTH综合征6例,与病理学诊断的符合率为96.3%;以2mgDST后抑制率〈50%为切点,诊断库欣病68例,肾上腺皮质瘤63例,异位ACTH综合征6例,与病理学诊断的符合率为84.0%。结论与2mgDST后抑制率〈50%相比,以血清皮质醇〉5μg/dL为切点诊断库欣综合征的准确性更高。