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.     

Adrenocortical Hyperfunction Associated with Bronchogenic Carcinoma: Report of Five Cases

Five patients with bronchogenic carcinoma associated with adrenocortical hyperfunction are described. The clinical features, laboratory studies and autopsy findings are discussed and compared with previously reported cases. Four patients presented most of the typical features of this disorder as previously described, whereas the fifth was atypical in some respects. Typical features included: acute onset of adrenocortical hyperfunction in a middle-aged male, rapid downhill course, slight or absent physical signs of Cushing's syndrome, frequently impaired glucose tolerance, markedly elevated plasma and urinary 17-hydroxycorticosteroids not suppressed by exogenous steroids, absent diurnal variation of plasma corticoids, hypokalemic alkalosis with normal aldosterone excretion, and tumour histology of the oat cell variety. The adrenal glands of two patients were of normal or slightly increased weight, and mean 17-ketosteroid excretion values were normal in three; this contrasts with the marked increase in adrenal weight and 17-ketosteroid excretion in most reported cases.     

Primary therapy for Cushing's disease with metyrapone

A 13-year-old boy was diagnosed as suffering from pituitary-dependent Cushing's syndrome. He was treated with 2.0 g of metyrapone daily as the sole treatment for four years. All clinical and biochemical stigmata of Cushing's disease disappeared within a few months. The patient grew 23.0 cm in four years and regained normal health. No significant side effects of metyrapone were noticed. Administering the medication at 2 PM and 8 PM allowed higher cortisol levels in the morning and noon hours than in the evening and night, approximating the normal diurnal variation in cortisol production. We conclude that metyrapone may be considered the sole treatment in patients with Cushing's disease.     

尿游离皮质醇测定在皮质醇症诊断中的价值和意义

本文报告皮质醇症16例,单纯性肥胖70例,主要研究尿游离皮质醇(UFC)在皮质醇症中的珍断价值,结果表明(1)UFC在皮质醇症中的诊断符合率为100％,没有假阴性。(2)UFC水平呈大幅度升高,在诊断上具有特征性.(3)过夜小抑试阴性不能排除皮质醇症,若UFC多次明显升高,结合临床可作进一步的病因学检查。因此UFC测定是皮盾醇症中一项敏感而可靠的诊断试验。     

A clinico-pathological study of Cushing's syndrome at the University Hospital of the West Indies and a review of the literature

Cushing's syndrome is an uncommon but important disease. Twenty-one confirmed cases of spontaneous Cushing's syndrome were documented at the University Hospital of the West Indies over a 21-year period. They were predominantly young females (F:M ratio of 17:4; mean age 25 years and 3 months). The commonest presenting symptoms were amenorrhoea (41%) and obesity (19%). Common clinical features were cushingnoid features (95%), hypertension (76%) and hirsutism (82%). Twenty-nine per cent had frank hyperglycaemia. Cushing's syndrome was due to Cushing's disease in 10 cases, adrenal adenoma in 3 and adrenal carcinoma in 2 cases. In 4 cases with presumed adrenal hyperplasia, the histology was either unavailable or was not consistent with the diagnosis. Two cases appear now to have had the ectopic ACTH Syndrome. Adrenalectomy was the commonest treatment offered. There were no intra-operative or post-operative deaths but recurrence was common after subtotal adrenalectomy in Cushing's disease. Twenty-seven per cent of the patients developed Nelson's syndrome, which was fatal in 50%. Long-term hormone replacement therapy was unnecessary after surgery for adrenal adenomas. Treatment of Cushing's syndrome was well tolerated by the patients.     

Five cases of cyclical Cushing's syndrome

Reported cases of cyclical Cushing's syndrome are rare. Of 14 successive patients with Cushing's syndrome nine collected sequential urine samples for the estimation of cortisol:creatinine ratio. Five had cyclical Cushing's syndrome while two had considerable variation in urinary cortisol excretion without a cyclical pattern being established. Two of the five patients with a cyclical syndrome had paradoxical responses to dexamethasone. In only one patient with a cyclical pattern did the cortisol:creatinine ratio fall after treatment with bromocriptine or cyproheptadine, or both. The high incidence of the cyclical form of Cushing's syndrome has important clinical implications. A high index of suspicion of the syndrome is required in patients with symptoms or signs of Cushing's syndrome but with normal cortisol values, in patients with fluctuating cortisol values, and in patients with anomalous responses to dexamethasone. Because of possible variations in steroidogenesis the results of drug studies in Cushing's syndrome must be interpreted cautiously.     

亚临床及肾上腺腺瘤型库欣患者的糖代谢紊乱

目的评价亚临床和肾上腺腺瘤型库欣患者糖代谢紊乱状况。方法对32例亚临床库欣(组1)、33例典型的肾上腺腺瘤型库欣(组2)及40例无功能瘤患者(组3)分别行口服糖耐量试验(OGTT),计算胰岛素敏感指数(ISI)、HOMA指数(HOMA-IR)、葡萄糖及胰岛素曲线下面积(AUCg,AUCi);同时检测各组患者血和尿皮质醇、血促肾上腺皮质激素(ACTH)及血钾等指标。以58名健康体检者作为对照组(组4)。结果组1、组2、组3和组4糖代谢紊乱的患病率分别为46.9%、48.5%、27.5%和22.4%;组2患者糖代谢相关指标,如空腹及糖负荷2 h后血糖(FBG及2 h PBG)、空腹及糖负荷2 h后血胰岛素(FIN及2 hPIN)及根据OGTT结果计算的AUCg、AUCi及HOMA-IR均高于其他组,而ISI则低于其他组别;剔除性别、年龄、腰围等相关因素的影响,多元回归分析结果显示,FBG、2 h PBG、AUCi与血、尿皮质醇水平呈正相关。组1患者皮质醇分泌仅为轻度升高,尚不足以引起库欣综合征典型的临床表现,但糖代谢紊乱和糖尿病的患病率亦升高(15.6%),其FBG、2 h PBG及AUCi等与血、尿皮质醇水平亦相关。结论亚临床及肾上腺腺瘤型库欣患者糖代谢紊乱的患病率明显升高,可能与皮质醇的高分泌状态有关。目的评价亚临床和肾上腺腺瘤型库欣患者糖代谢紊乱状况。方法对32例亚临床库欣(组1)、33例典型的肾上腺腺瘤型库欣(组2)及40例无功能瘤患者(组3)分别行口服糖耐量试验(OGTT),计算胰岛素敏感指数(ISI)、HOMA指数(HOMA-IR)、葡萄糖及胰岛素曲线下面积(AUCg,AUCi);同时检测各组患者血和尿皮质醇、血促肾上腺皮质激素(ACTH)及血钾等指标。以58名健康体检者作为对照组(组4)。结果组1、组2、组3和组4糖代谢紊乱的患病率分别为46.9%、48.5%、27.5%和22.4%;组2患者糖代谢相关指标,如空腹及糖负荷2 h后血糖(FBG及2 h PBG)、空腹及糖负荷2 h后血胰岛素(FIN及2 hPIN)及根据OGTT结果计算的AUCg、AUCi及HOMA-IR均高于其他组,而ISI则低于其他组别;剔除性别、年龄、腰围等相关因素的影响,多元回归分析结果显示,FBG、2 h PBG、AUCi与血、尿皮质醇水平呈正相关。组1患者皮质醇分泌仅为轻度升高,尚不足以引起库欣综合征典型的临床表现,但糖代谢紊乱和糖尿病的患病率亦升高(15.6%),其FBG、2 h PBG及AUCi等与血、尿皮质醇水平亦相关。结论亚临床及肾上腺腺瘤型库欣患者糖代谢紊乱的患病率明显升高,可能与皮质醇的高分泌状态有关。     

青少年库欣综合征患者的生长发育观察

目的 分析并探讨青少年库欣综合征(CS)患者的生长发育特点.方法 回顾性分析19例青少年CS患者(年龄小于18岁)的临床特点.将患者按照来诊时身高在同年龄同性别正常青少年中的百分位数分为身材矮小组(第3百分位数以下,n=12)和非矮小组(第3百分位数以上,n=7),分析病程、发病年龄和24h尿游离皮质醇的组间差异.结果患者年龄中位数为13岁,病程中位数为0.9年.所有患者均有典型CS临床表现.12例患者(63.2%)来诊时身材矮小.身材矮小组患者的病程明显长于非矮小组[(2.7±1.7)年比(0.8±0.6)年,P=0.013],但两组间发病年龄(P＝0.530)和24h尿游离皮质醇水平(P＝0.919)差异无统计学意义.结论 青少年CS患者较普遍存在身材矮小的情况,身高延迟程度可能与CS病程长短有关.     

Adrenal insufficiency after operative removal of apparently nonfunctioning adrenal adenomas

We describe a woman who developed adrenal insufficiency after removal of an apparently nonfunctional adrenal adenoma. She displayed no stigmata of Cushing's syndrome and had normal plasma and urinary cortisol levels. A second patient without clinical findings of Cushing's syndrome also had normal basal steroid levels. This patient displayed partial suppressibility with dexamethasone, had low-normal levels of serum corticotropin, and excreted a low concentration of urinary 17-ketosteroids. She also developed mild adrenal insufficiency after the operation. We believe the adrenal adenomas in these patients secreted enough cortisol to suppress the contralateral adrenal gland but not enough hormone to elevate basal steroid levels. Therefore, we suggest that all patients with adrenal masses be studied with the overnight dexamethasone suppression test rather than basal steroid hormone measurements to detect low levels of autonomous cortisol secretion. In addition, patients with adrenal masses that are not removed surgically should have serial adrenal function tests performed.     

Hypoalbuminaemic hyponatraemia: a new syndrome?

Six patients with severe hyponatraemia had neurological features of hyponatraemia and pronounced hypoalbuminaemia. All had biochemical features typical of the syndrome of inappropriate secretion of antidiuretic hormone with low serum osmolality and an inappropriately high urinary osmolality. All were given infusions of whole plasma or albumin solution, or both, to restore their plasma albumin concentrations to normal, which led to a dramatic increase in plasma sodium concentrations and serum osmolality, with a concomitant fall in urinary osmolality in all patients. Neurological features were reversed in four patients. It is suggested that severe hypoalbuminaemia is an important cause of appreciable hyponatraemia; infusions of plasma and albumin in such patients may reverse the biochemical and clinical features and should form the basis of management.     

马兜铃酸肾病合并范可尼综合征患者临床特点分析

目的 探讨马兜铃酸肾病(aritolochic acid nephropathy,AAN)合并范可尼综合征(Fanconi Syndmme,FS)患者的临床表现和生化特点.方法 回顾性分析1998年11月至2010年9月我院肾内科诊断AAN合并FS患者38例,观察患者临床表现、实验室检查指标和疗效.结果 38例患者中...     

Cushing's syndrome--transitory immune deficiency state?

A 28 year old female patient with Cushing's syndrome due to an adrenal adenoma also suffered from recurrent urinary infections (proteus), tonsillitis (streptococcus), permanent candidiasis and perimandibular abscess (Staphylococcus pyogenes). Suppression of cellular and humoral immunity was confirmed by in vitro tests. After successful right adrenalectomy the clinical signs of Cushing's syndrome disappeared and no evidence of either bacterial or fungal infection were noted one year postoperatively. Immunological tests showed the restitution of both cellular and humoral immunity. The course of the disease in the patient supports the idea that Cushing's syndrome might be considered as a transitory immune deficiency state.     

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.     

柯兴氏综合症致骨质疏松症28例临床分析

目的探讨柯兴氏综合症患者的首发症状,分析皮质醇增多所致骨质疏松的临床特点,提高对骨痛、骨折为首发表现的柯兴氏综合症的认识,减少误诊率.方法收集近10 a来收治的柯兴氏综合症患者28例,总结其首发症状以及主要临床特点;对28例患者的腰椎、股骨颈进行X线测定,用双能X线吸收仪进行骨密度检测,分析不同类型的柯兴氏综合症所致骨质疏松的临床特点.结果 （1）无论哪种类型的柯兴氏综合症,高血压是最常见的首发症状,占32.1%（9/28）,骨折、骨痛占25%（7/28）;（2）28例患者行X线检查,其中10例骨质疏松,6例肾上腺腺瘤,3例椎体或髋部骨折;对7例有骨折或骨痛症状的患者行骨密度检查提示骨质疏松.结论柯兴氏综合症所致骨质疏松症与病因相关,肾上腺肿瘤引起的肾上腺依赖性柯兴氏综合症较垂体分泌ACTH肿瘤引起的柯兴病更易引起的骨质疏松.     

Wilson's disease with hepatic presentation in childhood

Diagnosis of Wilson's disease with hepatic presentation in childhood using clinical and common laboratory parameters is still challenging and is often missed or delayed. The aim of the study was to document the clinical and laboratory parameters of hepatic presentation of Wilson's disease in children. The study was conducted at a tertiary-care hospital in a developing country. Clinical and common laboratory parameters were recorded in 32 Wilson's disease children with hepatic presentation. The diagnosis was based on positive family history, Kayser-Fleischer ring, low serum ceruloplasmin level, elevated basal urinary copper excretion and favorable response to therapy with D-penicillamine. Mean age+/-SD at presentation was 9+/-2.97 years and 21 (65.6%) were boys. Chronic liver disease (21; 65.6%) followed by fulminant hepatic failure 1(6; 18.8%) were the commonest presentation. In the whole group, Kayser-Fleischer ring was found in 21 (65.6%), low serum ceruloplasmin in 16 (50%) and elevated basal urinary copper excretion in all 32 (100%) children. Diagnosis of Wilson's disease was made at presentation on the basis of i) Kayser-Fleischer ring, low serum ceruloplasmin, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 11 (34.4%), ii) Kayser-Fleischer ring, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 10 (31.2%), iii) elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 6 (18.8%) and iv) low ceruloplasmin, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 5 (15.6%) children. Wilson's disease can not be excluded in children presenting with hepatic involvement using the commonly practiced clinical and laboratory parameters. A combination of various clinical and laboratory parameters were used for the diagnosis of Wilson's disease in the studied children with hepatic presentation.     

动态磁共振对库欣病的诊断价值(附32例报告)

目的探讨动态磁共振(MRI)对库欣病的诊断意义.方法回顾性分析经临床和实验室检查诊断为库欣病者32例,均行蝶鞍区普通平扫和增强后动态MRI检查.结果动态MRI诊断垂体腺瘤29例.32例均行经蝶窦显微外科手术.术后病理报告垂体腺瘤29例,垂体细胞增生2例,病理阴性1例.术后随访3～15个月,皮质醇下降至正常者28例.结论动态MRI能更清晰地显示蝶鞍内垂体微小腺瘤,可提高垂体微腺瘤的诊断率.     

Clinical presentation of acute chest syndrome in sickle cell disease

In this study the records of 45 patients with sickle cell disease involved in 63 presentations of acute chest syndrome at the Princess Margaret Hospital in Nassau, the Bahamas, between 1997 and 2001 were examined. Patients were divided into three groups on the basis of age (<13 years, 13-18 years, >/=19 years) with a view to assessing clinical presentation. The incidence of symptoms, physical signs, and laboratory findings were enumerated and significant differences between age groups determined. The data were analysed using analysis of variance, t test, and chi(2) test and compared with existing knowledge on the subject. This study proposed to evaluate the clinical presentation of acute chest syndrome with emphasis on historical and physical findings, and to encourage the physician to maintain a high index of suspicion for the condition in susceptible patients. It was found that presentation varied significantly with age groups, children presenting most classically with fever and cough and adults, with chest pain. The 13-18 age group emerged as the group which presented most frequently with the typical symptoms of chest infection, thus potentially making diagnosis easier. Of note, the most frequent finding was a normal examination, while the second commonest physical finding was crepitations on auscultation of the chest.     

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.     

费尔蒂综合征的临床分析(附五例报告)

目的 总结费尔蒂综合征(FS)的临床特点.方法 回顾性分析我院收治的5例FS综合征患者的临床资料,并进行文献复习.结果 ①临床特点:5例均有类风湿性关节炎病史、脾大、贫血;4例发热或反复感染,2例轻度肝大;1例继发性干燥综合征,体重下降4例;②实验室检查:5例均有血细胞降低、血沉增快、免疫球蛋白增高、手足骨质破坏;类风湿因子高滴度阳性、抗核抗体阳性及低补体血症各4例.③5例均用激素和免疫抑制剂联合治疗,2例行脾切除.结论 FS是类风湿关节炎的特殊类型,具有独特的临床表现,激素和免疫抑制剂可治疗本病,必要时予以脾切除.