Ectopic adrenocorticotropic hormone syndrome originating from retroperitoneal paraganglioma: one case report and literature review / 中国医师杂志

Objective:To present the clinical characteristics and treatment on patients with ectopic adrenocorticotropic hormone(ACTH) syndrome (EAS) caused by the retroperitoneal paraganglioma.Methods:The clinical data of a case of EAS caused by retroperitoneal paraganglioma were analyzed retrospectively, and the related literature at home and abroad was reviewed.Results:The 53-year-old female patient was admitted to endocrinology department due to a fifteen-year history of hypertension, accompanied by fatigue for three months, headache and dizziness for one month. The laboratory data demonstrated severe hypokalemia, high level of serum and urinary cortisol, while the ACTH level remained unsuppressed. The 24 h urinary vanillyl mandelic acid (VMA) and serum free methoxyepinephrine (MNs) level were elevated. The abdominal computed tomographic scan suggested a retroperitoneal mass next to the abdominal aorta. After the retroperitoneal tumor resection was performed, immunohistochemical staining of the tumor revealed Syn (+ ), CgA (+ ), ACTH (focal + ). By the retrospective analysis of 22 similar cases from 16 papers and the case summarized above, we found that most patients with EAS caused by the paraganglioma could demonstrate the typical clinical features of Cushing′s syndrome, while lack of the manifestation of paraganglioma. Therefore, preoperative preparations for paraganglioma were usually neglected.Conclusions:Ectopic ACTH syndrome (EAS) originating from paraganglioma is very rare. To improve the diagnosis rate, examination for catecholamine, MNs and 24 h urinary VMA before surgery in patients with EAS is suggested. Considering surgical resection as the optimal treatment, comprehensive preoperative preparations for both paraganglioma and Cushing′s syndrome are significant. A genetic test for pheochromocytoma/ paraganglioma and lifelong postoperative follow-up are also recommend.

A case of ectopic adrenocorticotropic hormone syndrome caused by paraganglioma mimic dermatomyositis / 中华风湿病学杂志

Objective@#To improve the recognition of ectopic adrenocorticotropic hormone syndrome.@*Methods@#The diagnosis and treatment of a 43 years old female patient with multiorgan involvement mimic dermatomyositis was analyzed and discussed.@*Results@#The patient presented with fatigue, edema, skin pigmentation, neuropsychiatric abnormalities, hypertension, hypokalemia, hyperglycemia and other systemic involvement, was finally diagnosed with ectopic adrenocorticotropic hormone syndrome caused by paraganglioma of the anterior mediastinum. After surgical removal of the tumor, her clinical symptoms immediately relieved, meanwhile related hormone levels returned to normal.@*Conclusion@#Although paraganglioma-induced ectopic adrenocorticotropic hormone syndrome is rare in clinical practice, more attention should be paid to this specific situation.

A case of ectopic adrenocor ticotropic hormone syndrome caused by paraganglioma mimic dermatomyositis / 中华风湿病学杂志

Objective To improve the recognition of ectopic adrenocorticotropic hormone syndrome.Methods The diagnosis and treatment of a 43 years old female patient with multiorgan involvement mimic dermatomyositis was analyzed and discussed.Results The patient presented with fatigue,edema,skin pigmentation,neuropsychiatric abnormalities,hypertension,hypokalemia,hyperglycemia and other systemic involvement,was finally diagnosed with ectopic adrenocorticotropic hormone syndrome caused by paragang-lioma of the anterior mediastinum.After surgical removal of the tumor,her clinical symptoms immediately relieved,meanwhile related hormone levels returned to normal.Conclusion Although paraganglioma-induced ectopic adrenocorticotropic hormone syndrome is rare in clinical practice,more attention should be paid to this specific situation.

Síndrome de Cushing ectópico: revisión de la literatura / Ectopic Cushing Syndrome: A literature review

El síndrome de Cushing es una enfermedad muy rara pero asociada a una morbimortalidad significativa. Se clasifica como dependiente de la hormona adrenocorticotrópica (ACTH: tumores hipofisiarios y ectópicos) o independiente de ACTH (lesiones de origen adrenal). En la mayoría de los casos, las lesiones responsables del síndrome corresponden a tumores hipofisiarios, seguida de lesiones adrenales y por último de tumores ectópicos (5-15% de todos los casos). En este artículo se hará una revisión de los aspectos epidemiológicos, clínicos, diagnósticos y terapéuticos más importantes de los tumores ectópicos causantes del síndrome de Cushing.

Cushing's syndrome is a very rare disease associated with significant morbidity and mortality. It is classified as adrenocorticotropic hormone (ACTH) dependent (Pituitary and ectopic tumors) or ACTH independent (lesions of adrenal origin). In most cases, pituitary tumors are responsible for the Cushing's syndrome, followed by adrenal lesions and finally by ectopic tumors (5-15% of all cases). This article describes the most important epidemiological, clinical, diagnostic and therapeutic aspects of ectopic tumors causing Cushing's syndrome.

The value of X-ray guided desmopressin stimulated bilateral inferior petrosal sinus sampling in diagnosing the recurrence of ACTH dependent Cushing disease or ineffectiveness of surgery or radiotherapy / 中华放射学杂志

Objective To investigate the value of X-ray guided desmopressin (DDAVP) stimulated bilateral inferior petrosal sinus sampling (IPSS) in diagnosing the recurrence of ACTH dependent Cushing disease or ineffectiveness after surgery or radiotherapy. Methods Retrospective analyses of patients with recurrent ACTH dependent Cushing disease (31 cases) or ineffective (3 cases) treatment after surgery or radiotherapy from January 2013 to October 2014 in our hospital was conducted. Bilateral inferior petrosal sinus angiography showed the same side of the cavernous sinus to prove successful intubation. The cases with discontinuous of the inferior petrosal sinus and cavernous sinus were excluded by this study. Finally, there were 34 cases of the patients in this study. Diagnosis was based on the ratio of ACTH level in IPS to peripheral vein after desmopressin test.The gradient≥2 at baseline or gradient≥3 after desmopressin test suggested the sources were in the pituitary. Diagnosis was confirmed by gold standard to investigate the value of X-ray guided desmopressin (DDAVP) stimulated bilateral IPSS. Results The IPS gradient≥2 at baseline or gradient≥3 after desmopressin test suggested the sources were in the pituitary in 30 patients. A total of 22 (22/30) patients underwent surgery with a final diagnosis of ACTH adenoma. The symptoms were obviously relieved in 8 (8/30) cases after sellar area gamma knife treatment and lesions were confirmed in the pituitary. IPS gradient<2 at baseline or gradient<3 after desmopressin test was found in 4 cases. One case (1/4) was found to have for ACTH adenoma after pituitary surgery. The other 3 cases (3/4) were confirmed to have lung carcinoid and clinical symptom alleviated after surgery. The sensitivity of desmopressin stimulated IPSS was 96.8%, the specificity was 100%, and the accuracy was 97.1%. Conclusion Desmopressin stimulated IPSS is an effective diagnostic procedure in diagnosing ACTH dependent Cushing disease recurrence or ineffectiveness after surgery or radiotherapy.

Ectopic ACTH syndrome caused by pulmonary carcinoid tumor mimicking long-standing sclerosing hemangioma

No abstract available.

A Case of Ectopic Adrenocorticotropic Hormone Syndrome in Small Cell Lung Cancer.

Small cell lung cancer (SCLC), which originated from neuroendocrine tissue, can develop into paraneoplastic endocrine syndromes, such as Cushing syndrome, because of an inappropriate secretion of ectopic adrenocorticotropic hormone (ACTH). This paraneoplastic syndrome is known to be a poor prognostic factor in SCLC. The reason for poor survival may be because of a higher risk of infection associated with hypercortisolemia. Therefore, early detection and appropriate treatment for this syndrome is necessary. But the diagnosis is challenging and the source of ACTH production can be difficult to identify. We report a 69-year-old male patient who had severe hypokalemia, metabolic alkalosis, and hypertension as manifestations of an ACTH-secreting small cell carcinoma of the lung. He was treated with ketoconazole and spironolactone to control the ACTH dependent Cushing syndrome. He survived for 15 months after chemotherapy, which is unusual considering the poor outcome of the ectopic ATH syndrome associated with SCLC.

A Case of Ectopic Adrenocorticotropic Hormone Syndrome in Small Cell Lung Cancer / 결핵및호흡기질환

Small cell lung cancer (SCLC), which originated from neuroendocrine tissue, can develop into paraneoplastic endocrine syndromes, such as Cushing syndrome, because of an inappropriate secretion of ectopic adrenocorticotropic hormone (ACTH). This paraneoplastic syndrome is known to be a poor prognostic factor in SCLC. The reason for poor survival may be because of a higher risk of infection associated with hypercortisolemia. Therefore, early detection and appropriate treatment for this syndrome is necessary. But the diagnosis is challenging and the source of ACTH production can be difficult to identify. We report a 69-year-old male patient who had severe hypokalemia, metabolic alkalosis, and hypertension as manifestations of an ACTH-secreting small cell carcinoma of the lung. He was treated with ketoconazole and spironolactone to control the ACTH dependent Cushing syndrome. He survived for 15 months after chemotherapy, which is unusual considering the poor outcome of the ectopic ATH syndrome associated with SCLC.

Medullary thyroid carcinoma with ectopic adrenocorticotropic hormone syndrome.

Ectopic adrenocorticotropic hormone (ACTH) syndrome is caused most frequently by a bronchial carcinoid tumor or by small cell lung cancer. Medullary thyroid carcinoma (MTC) is a rare etiology of ectopic ACTH syndrome. We describe a case of Cushing syndrome due to ectopic ACTH production from MTC in a 48-year-old male. He was diagnosed with MTC 14 years ago and underwent total thyroidectomy, cervical lymph node dissection and a series of metastasectomies. MTC was confirmed by the pathological examination of the thyroid and metastatic mediastinal lymph node tissues. Two years after his last surgery, he developed Cushingoid features, such as moon face and central obesity, accompanied by uncontrolled hypertension and new-onset diabetes. The laboratory results were compatible with ectopic ACTH syndrome. A bilateral adrenalectomy improved the clinical and laboratory findings that were associated with Cushing syndrome. This is the first confirmed case of ectopic ACTH syndrome caused by MTC in Korea.

Medullary Thyroid Carcinoma with Ectopic Adrenocorticotropic Hormone Syndrome

Ectopic adrenocorticotropic hormone (ACTH) syndrome is caused most frequently by a bronchial carcinoid tumor or by small cell lung cancer. Medullary thyroid carcinoma (MTC) is a rare etiology of ectopic ACTH syndrome. We describe a case of Cushing syndrome due to ectopic ACTH production from MTC in a 48-year-old male. He was diagnosed with MTC 14 years ago and underwent total thyroidectomy, cervical lymph node dissection and a series of metastasectomies. MTC was confirmed by the pathological examination of the thyroid and metastatic mediastinal lymph node tissues. Two years after his last surgery, he developed Cushingoid features, such as moon face and central obesity, accompanied by uncontrolled hypertension and new-onset diabetes. The laboratory results were compatible with ectopic ACTH syndrome. A bilateral adrenalectomy improved the clinical and laboratory findings that were associated with Cushing syndrome. This is the first confirmed case of ectopic ACTH syndrome caused by MTC in Korea.

Approach to the patients with ectopic ACTH syndrome / 中华内分泌代谢杂志

Clinical features of 2 cases of ectopic ACTH syndrome with manifestation of severe hypercortisonism are described with the aim of exploring effective therapies.

Approach to the patient with ectopic ACTH syndrome caused by adrenal pheochromocytoma : diagnosis and treatment / 中华内分泌代谢杂志

Ectopic ACTH syndrome caused by adrenal pheochromocytoma is very rare.A case was herewith reported and the domestic and foreign literatures were reviewed.The correct diagnosis of the syndrome depends on clinical,biochemical,hormonal,radiographic,pathological investigations,as well as tumor immunohistochemistry for final comprehensive judgments.

The clinical features of ectopic ACTH syndrome: a report of 16 cases / 中华内科杂志

Objectives To improve the diagnostic and therapeutic ability of ectopic ACTH syndrome by analysing its clinical features.Methods Sixteen cases of ectopic ACTH syndrome diagnosed in Chinese PLA General Hospital from 2000 to 2009 were analyzed retrospectively.Results ( 1 ) The main causes of ectopic ACTH syndrome were lung tumor and thymic carcinoid;(2) Abnormal glucose metabolism, hypertension, hypokalemia and edema of both lower limbs were the most common clinical symptoms;(3) Laboratory examination showed a significant increase of serum cortisol, adrenocorticotropic hormone(ACTH) and 24 h urinary free cortisol (24hUFC) together with severe hypokalemia and alkalosis;(4) High dose dexamethasone suppressing test, corticotrophin-releasing hormone(CRH) stimulating test and petrosal sinus sampling were the most meaningful diagnostic methods;(5) Most of the primary lesions might be detected with chest film and CT;(6) Resection of the primary lesion was the treatment of first choice.Conclusion The diagnosis of ectopic ACTH syndrome is very hard.Resection of the primary lesion is the best treatment.

Analysis of glucose dysbolism in patients with ectopic ACTH syndrome / 中华内分泌代谢杂志

The characteristics of glucose dysbolism in ectopic ACTH syndrome (EAS) were investigated by analysing the clinical data of 117 patients with Cushing syndrome (CS). The patients with CS were divided into 3 groups : EAS group (n = 9) , Cushing's disease (CD) group (n = 67) and adrenocortical adenoma (AA) group (n =41). Retrospective analysis of the data covered the prevalence of secondary diabetes, blood glucose, HbAlc, blood potassium, and blood ACTH and 24 h urinary-free cortisol (UFC) levels. Compared with CD and AA groups, the prevalence of secondary diabetes and blood glucose level were higher in EAS group, while HbAlc level was lower. Blood glucose level in patients with ectopic ACTH syndrome decreased to normal after tumor removal.

Progress in the mechanisms of glucocorticoid resistance in ectopic ACTH syndrome / 中华内分泌代谢杂志

High level of eetopie serum ACTH can not be suppressed by endogenous or exogenous glucocorticoid, this is the cardinal characteristic of ectopic ACTH syndrome (EAS), that is to say there exists glucocorticoid resistance in EAS. However, the mechanism of glucocorticoid resistance remains unclear. Identifying the mechanism can help us to diagnose and treat the disease. This review focuses on the mechanism of glucocorticoid resistance from several aspects, including the pre-glucocorticoid receptor (GR), GR and post-GR.

Comparison of the clinical features in ectopic ACTH syndrome and Cushing′s disease with hypokalemia / 中华内分泌代谢杂志

Objective To study the clinical features of the ectopic ACTH syndrome in order to increase the early diagnostic rate. Methods Clinical features and imaging diagnosis of 8 consecutive patients with ectopic ACTH syndrome were described and laboratory data were compared with those of 16 consecutive patients with ACTH-dependent Cushing′s syndrome accompanied with hypokalemia. Results The ectopic ACTH syndrome occurred in 11.3% of all patients with Cushing′s syndrome and the common causes were lung cancer and bronchial carcinoid. The clinical features of the ectopic ACTH syndrome differ from those of ACTH-dependent Cushing′s syndrome. Ectopic ACTH syndrome occured predominently in men and showed the duration of symptoms less than 5 months and a more rapid clinical course. There were apparent muscle weakness, edema of lower extremities, higher plasma ACTH and free cortisol (F), severe metabolic alkalosis and more negative responses to the high dose of dexamethasone suppression test. Chest X-rays and CT were helpful for tumor localization. The prognosis depended on whether the tumor was malignant or benign, and complete surgical resection of tumor was the key treatment. Conclusion Ectopic ACTH syndrome could be distinguished from the ACTH-dependent Cushing′s syndrome with hypokalemia according to the clinical features, laboratory data, plasm ACTH and F levels, as well as chest X-rays and CT.

Ectopic ACTH syndrome caused by thymus carcinoid / 中华内分泌代谢杂志

Objective To increase the awareness of ectopic ACTH syndrome in patients with thymus carcinoid. Methods Clinical manifestations, especially atypical presentation of ectopic ACTH syndrome, laboratory findings and imaging data (chest X-ray and CT, etc.) in 6 patients were analysed. Results In all 6 patients, the thymus tumors removed were pathologically proved to be thymus carcinoid. Conclusion Patients having typical manifestations of Cushing′s syndrome with hypokalemia, edema, proteinuria and equivocal result of dexamethasone inhibition test, should be considered as ACTH syndrome. And thymus carcinoid seems to be the cause of the disease.

Gene expression profile in thymic carcinoid tumors with ectopic ACTH syndrome by gene chip technique / 中华内分泌代谢杂志

Objective To analyze the differential gene expression between thymic carcinoids and normal thymic tissues and to study thepathogenesisofectopicACTH syndrome caused by thymic carcinoids. Methods Using gene chip technique, the gene differential expression of 2 tissues were observed following RNA labeled with different fluorescences (Cy3 and Cy5) hybridized to gene chip. Results Among 4224 genes on gene chip, 394 were up regulated more than 2 folds in thymic carcinoid tissues, 23 of which were associated with cell mitosis; 51 genes were upregulated more than 5 folds, 1 of which (PAK3) was associated with cell mitosis. Conclusion A group of differentially expressed genes were observed between the thymic carcinoids and normal thymic tissues.These overexpressed and cell mitosis-associated genes probably play a role in the pathogenesis of thymic carcinoid tumors.

Hyperglycemia and hypokalemia with a pancreatic tumor / 中华内分泌代谢杂志

A mid-aged male patient manifested hyperglycemia, severe hypokalemia, weight loss, thin skin, round face and psychoneurotic symptoms without hypertension. CT showed a pancreatic tumor and a normal pituitary image. Preliminary assessment (blood and urinary cortisol, blood ACTH and dexamethasone suppression test) supported the diagnosis of ectopic ACTH syndrome. The differential diagnosis and treatment of this disease were discussed.