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1.
《Endocrine practice》2014,20(2):176-187
ObjectiveMedullary thyroid carcinoma (MTC) and pheochromocytoma/paraganglioma (PHEO/PGL) are rare neuroendocrine tumors. Because of the increased metastatic rates in certain genetic backgrounds, early diagnosis and treatment are essential to improved patient outcomes. Our objective was to summarize recent findings related to the genetics, diagnosis, and management of MTC and PHEO/PGL.MethodsA literature review was performed.ResultsMTC is primarily associated with mutations in the rearranged during transfection (RET) protooncogene. Determining the specific genetic mutation can guide patient management and screening. Early detection and appropriate surgical management of MTC is critical to prevent or limit metastatic spread, as treatment options for patients with metastatic disease are limited. PHEO/PGL also has a strong genetic component, with approximately 50% of cases linked to germline and somatic mutations in 15 genes. Although most PHEO/PGLs are benign, factors such as genetic background, size, tumor location, and high methoxytyramine levels are associated with higher rates of metastatic disease. The state-of-the-art diagnosis and localization of PHEO/PGLs is based on measurement of plasma metanephrines and methoxytyramine and functional imaging studies. For both PHEO/PGL and MTC, surgery is the only curative treatment. Treatment options for patients with metastatic disease are limited.ConclusionAs genetic testing becomes more widely available, the diagnosis of MTC and PHEO/PGL will be made earlier due to routine screening of at-risk patients. In addition, continued advances in basic science, diagnostic methods, and imaging techniques will improve understanding of the pathogenesis of these diseases and facilitate the introduction of novel treatment strategies for patients with metastatic disease. (Endocr Pract. 2014;20:176-187)  相似文献   

2.
《Endocrine practice》2014,20(12):e237-e240
ObjectiveTo present a case of gestational thyrotoxicosis and hyperemesis gravidarum associated with Wernicke’s encephalopathy.MethodsWe present a detailed case report with the clinical, imaging, and laboratory findings of the patient and review the pertinent literature.ResultsA 36-year-old woman at 14 weeks of gestation was admitted to the hospital for management of severe hyperemesis gravidarum (HG). While hospitalized, she developed low-grade fever, tachycardia, hypotension, and altered mentation. Laboratory tests were diagnostic of hyperthyroidism. Physical examination revealed a confused, lethargic woman with a normal-size thyroid and pendular nystagmus in primary and lateral gaze. She was treated empirically for thyroid storm with methimazole and other measures. A brain magnetic resonance imaging (MRI) study done later showed hyperintense abnormal signals in bilateral thalamic regions, consistent with Wernicke’s encephalopathy (WE). She was immediately started on intravenous thiamine and her mental status improved considerably within 3 to 4 days. Within 2 weeks, the patient’s thyroid-function tests normalized and methimazole was discontinued. A repeat brain MRI 6 months later showed marked reduction of signal intensity in both thalamic regions.ConclusionThis case demonstrates that gestational thyrotoxicosis in a patient with HG can precipitate acute WE, which may mimic thyroid storm and thus delay appropriate management of this neurologic disorder. We conclude that prophylactic thiamine administration may be considered before caloric replacement in patients who present with HG and acute neurologic dysfunction. (Endocr Pract. 2014;20:e237-e240)  相似文献   

3.
《Endocrine practice》2012,18(4):e81-e84
ObjectiveTo describe a patient presenting with hemorrhagic shock attributable to bleeding pheochromocytomas and the sequential management strategy used for treating this patient.MethodsWe summarize the clinical presentation,diagnostic work-up, surgical management, and pathologicfeatures of our patient and review the pertinent literature.ResultsA 38-year-old man with multiple endocrineneoplasia type 2A and bilateral pheochromocytomas presented initially with nearly fatal retroperitoneal and intraperitoneal hemorrhage rather than the characteristic hypertensive paroxysms. After lifesaving operative interventionand a 5-month period of rehabilitation and convalescence,the patient underwent bilateral retroperitoneoscopic adrenalectomy as definitive treatment. Thus, the abdomen thathad been operated on multiple times because of hemorrhage was left undisturbed, and the patient had a successfulrecovery.ConclusionNear-fatalintraperitonealhemorrhageis a very rare initial manifestation of pheochromocytoma.Our current patient with bilateral pheochromocytomaspresented in this dramatic manner. This case shows that a sequential management strategy of damage-control surgical treatment followed by future resection of the tumorsafter appropriate a-adrenergic blockade is a safe and effective therapeutic option. (Endocr Pract. 2012;18:e81-e84)  相似文献   

4.
《Endocrine practice》2012,18(6):e144-e146
ObjectiveTo report the first case of imperforate hymen and vaginal atresia in a patient with mucocolpos during toddlerhood who was found to have central preco cious puberty.MethodsWe review the details of assessment of an 18-month-old girl who had the presence of pubic hair and breast enlargement. She underwent biochemical evaluation with serum follicle-stimulating hormone, luteinizing hor mone, and estradiol and radiologic evaluation with ultra sonography of the abdomen and pelvis as well as magnetic resonance imaging of the pelvis and brain.ResultsThis young female patient had clinical and imaging findings suggestive of idiopathic central preco cious puberty. Imaging also revealed imperforate hymen, vaginal atresia, and mucocolpos. She underwent surgical treatment to ensure an unobstructed vaginal opening before initiation of gonadotropin-releasing hormone agonist ther apy, since the latter may precipitate uterine bleeding and might have converted mucocolpos to a combination of mucocolpos and hematocolpos.ConclusionThis case highlights the need to suspect the presence of precocious puberty in all female patients in whom mucocolpos is detected beyond infancy but before adolescence. (Endocr Pract. 2012;18:e144-e146)  相似文献   

5.
《Endocrine practice》2013,19(3):e57-e60
ObjectiveWe describe a young woman with previously undiagnosed thyrotoxicosis who presented with acute liver failure (ALF).MethodsWe present a case report and review the relevant literature.ResultsAn extensive evaluation excluded possible causes of ALF other than thyrotoxicosis. The management of thyrotoxicosis posed several unique challenges in the setting of ALF, particularly because we did not want to use potentially hepatotoxic thionamides. The patient was treated with prednisone and propranolol and was started on potassium iodide when she was listed for liver transplantation. She underwent an uncomplicated liver transplant and subsequent thyroidectomy and is doing well.ConclusionThis well-characterized case describes thyrotoxicosis as a possible cause of ALF after thoroughly excluding other possible causes and illustrates the challenges of simultaneously managing both disorders. To our knowledge, this is the first report of ALF possibly resulting from untreated thyrotoxicosis that was successfully treated with liver transplantation. (Endocr Pract. 2013;19:e57-e60)  相似文献   

6.
ObjectiveTo report a case of hyperthyroidism associated with Hülllnnvl-ürthle cellcarcinoma and to review the literature regarding this relationship.MethodsWe describe the clinical, biochemical, radiologic, and pathologic data of a patient with Hürthle cellcarcinoma associated with thyrotoxicosis and reversible heart failure. We discuss the mechanistic aspects and review previously reported cases of functionalHürthle cellcarcinomas.ResultsA 43-year-old womanpresented with thyrotoxicosis and nonischemic cardiomyopathy. She had a “hot” nodule inthe left lobe of the thyroid onsodium pertechnetate scan. She underwent a left hemithyroidec-tomy and isthmusectomy. Pathologic findings revealed a minimally invasive Hürthle cellcarcinoma. Onfollow-up, the dilated cardiomyopathy had resolved. The associationof thyroid carcinoma with thyrotoxicosis is rare.ConclusionsSome Hürthle cellcarcinomas canbe functionaland lead to thyrotoxicosis. To our knowledge, we present the first case of reversible dilated cardiomyopathy due to thyrotoxicosis originating from Hülll-ürthle cellcarcinoma. (Endocr Pract. 2012;18:e5-e9)  相似文献   

7.
《Endocrine practice》2009,15(6):567-572
ObjectiveTo report the case of a patient with multiple endocrine neoplasia type 1 (MEN 1) syndrome with concomitant parathyroid carcinoma and a classic MEN1 germline mutation.MethodsWe present the clinical findings, laboratory results, imaging studies, and surgical histopathologic features in a woman with MEN 1 syndrome and concomitant parathyroid carcinoma. We also review the literature regarding patients with similar clinical entities and the use of adjuvant radiotherapy for parathyroid carcinoma.ResultsA 53-year-old woman presented with nausea and severe primary hyperparathyroidism. Computed tomography revealed parathyroid masses, shown later to be bilateral parathyroid carcinomas and adenomas. Magnetic resonance imaging demonstrated a pituitary macroadenoma, and gastrinomas were confirmed by computed tomography and a secretin stimulation test. She was successfully treated with total thyroidectomy, subtotal parathyroidectomy, and adjuvant radiotherapy. Genetic analysis revealed a classic MEN1 germline mutation.ConclusionThis report describes a patient with parathyroid carcinoma occurring in conjunction with MEN 1, further characterizing this rare condition. In contrast to previously described patients, our patient is the first with a classic MEN1 germline mutation, confirming that parathyroid cancer can occur in association with classic MEN 1 genetics. (Endocr Pract. 2009;15:567-572)  相似文献   

8.
《Endocrine practice》2007,13(4):384-388
ObjectiveTo describe a 24-year-old patient with immune-mediated primary adrenal insufficiency and type 1 diabetes mellitus (T1DM) receiving intensive diabetes management who was comatose at presentation attributable to severe hypoglycemia and had residual dysphasia after recovery and to summarize the related literature.MethodsWe present a case report and the findings on systematic review of the pertinent literature to identify the cumulative incidence of severe hypoglycemia with use of intensive insulin therapy in patients with primary adrenal insufficiency and T1DM and to determine the incidence of dysphasia after severe hypoglycemia.ResultsAfter 5 days of mechanical ventilation, our patient was revived. He had severe dysphasia after recovery of consciousness. Magnetic resonance imaging of the brain revealed encephalomalacia in the left temporal, frontal, and parietal lobes. After 6 years of follow-up, he continues to have residual deficits of expressive dysphasia and difficult-to-control seizures but no other neurologic disorders. Systematic review of the literature revealed that studies from the 1950s reported mortality due to hypoglycemia in such a cohort, but no recent studies have described the cumulative incidence of severe hypoglycemia in a cohort of patients with primary adrenal insufficiency and T1DM. To the best of our knowledge, we report the first findings on magnetic resonance imaging of the head in such a patient.ConclusionFortunately, residual dysphasia is an infrequent outcome after severe hypoglycemia. (Endocr Pract. 2007;13:384-388)  相似文献   

9.
《Endocrine practice》2013,19(3):e74-e76
ObjectiveTo describe the clinical course of a patient with a nonresectable pheochromocytoma during urgent hip surgery.MethodsTo describe the clinical management and postoperative outcome of the patient and review the relevant literature.ResultsAn 85-year-old male with a nonresectable pheochromocytoma required urgent hip surgery following a traumatic hip fracture. He was perioperatively managed with phenoxybenzamine, metyrosine, and metoprolol to avoid potential pheochromocytoma-related complications. He remained hemodynamically stable and recovered from the surgery without complications.ConclusionsThis case illustrates the successful management of a patient requiring urgent surgery in the setting of a nonresectable pheochromocytoma, which is rarely described in the literature. (Endocr Pract. 2013;19: e74-e76  相似文献   

10.
《Endocrine practice》2007,13(3):269-273
ObjectiveTo describe a rare case of acute myocardial infarction in a patient with neurofibromatosis 1 and pheochromocytoma and to review the literature on the coexistence of these 2 diseases, the causes of myocardial injury in patients with pheochromocytoma, and the utility of genetic testing and pheochromocytoma screening for those patients and their families.MethodsWe present a case report, including the detailed clinical, laboratory, and radiographic data, results of adrenal mass pathology, and results of coronary angiography. We also survey other relevant reports available in the literature.ResultsA 43-year-old woman with a history of longstanding hypertension, neurofibromatosis 1, headaches, sweating, and palpitations presented to the hospital with chest pain and shortness of breath. She was found to have an acute myocardial infarction and pulmonary edema, as well as a right adrenal mass. A pheochromocytoma was suspected, and phenoxybenzamine was added to her treatment regimen. Cardiac catheterization showed nonobstructive coronary disease. The levels of plasma catecholamine metabolites were extremely high. The patient underwent uncomplicated laparoscopic right adrenalectomy 2 weeks after this admission. Surgical pathology confirmed the diagnosis of pheochromocytoma.ConclusionAdrenergic crisis attributable to pheochromocytoma can result in acute myocardial infarction even in the absence of obstructive coronary disease. Inclusion of pheochromocytoma in the differential diagnosis of hypertension in patients with neurofibromatosis is very important and helps avoid mistakes in the management of such patients. (Endocr Pract. 2007;13:269-273)  相似文献   

11.
《Endocrine practice》2012,18(3):e37-e42
ObjectiveTo report the case of a 78-year-old woman with mixed corticomedullary carcinoma of the adrenal gland, and to review other reported lesions that exhibit clinical and/or histopathologic features of both adrenal cortical and medullary differentiation.MethodsWe describe the patient’s clinical findings and laboratory test results, as well as the gross and histopathologic features of her tumor. We also review the literature pertaining to mixed corticomedullary adenomas and cortical tumors with clinical features of pheochromocytoma, and vice versa.ResultsA 78-year-old woman with a 10-cm left adrenal mass was hospitalized for management of hypertensiveurgency. Laboratory workup revealed elevated urinary metanephrine excretion and elevated serum dehydroepiandrosterone sulfate levels. She underwent left adrenalectomy. Pathologic examination of the lesion showed mixed cortical and medullary histologic characteristics, as well as gross and microscopic evidence of malignancy. Including the present case, we identified 17 cases of neoplasms that exhibit features of mixed corticomedullary differentiation.ConclusionsThis report represents the first documented case of mixed corticomedullary carcinoma. Several benign lesions combine clinical, biochemical, and/or histopathologic evidence of both adrenal cortical and medullary differentiation, including mixed corticomedullary adenomas and corticotropin-secreting pheochromocytomas. The differential diagnosis of a lesion with mixed cortical and medullary features should also include a malignant neoplasm. (Endocr Pract. 2012;18:e37-e42)  相似文献   

12.
13.
《Endocrine practice》2013,19(4):83-87
ObjectiveTo describe the first reported case of nonislet cell tumor hypoglycemia (NICTH) associated with carcinosarcoma of the ovary.MethodsWe report the clinical course, imaging, and pathologic findings of our patient and review relevant literature.ResultsA 48-year-old woman had a surgery to remove ovarian masses, which turned out to be carcinosarcoma of the ovary, stage IIIc; however, she declined postoperative adjuvant chemotherapy. Six months later, she became unconscious with severe hypoglycemia. A large pelvic mass was found and thought to represent a recurrence. Serum insulin and C-peptide were undetectable. Morning cortisol was mildly elevated. Thyroid stimulating hormone, amylase, lipase, and renal and hepatic functions were normal. While insulin-like growth factor (IGF)-I was low, IGF-II was inappropriately elevated. Increased IGF-II/IGF-I ratio was suggestive of NICTH in light of the large pelvic tumor. She required frequent meals, dextrose boluses, and continuous infusions, oral prednisone, and glucagon continuous infusion to prevent recurrent hypoglycemic attacks. Chemotherapy with carboplatin and paclitaxel was initiated, and glucose control started to improve. After 4 cycles of the chemotherapy, the tumor regressed substantially and was surgically removed. She had 3 more cycles of postoperative chemotherapy. Although the reported median survival of this aggressive neoplasm is less than 2 years, this patient has been free of recurrent disease and hypoglycemia for 6 years.ConclusionsThis is the first study to report NICTH in a patient with carcinosarcoma of the ovary. Clinicians should be aware of NICTH as a cause of hypoglycemia especially in a patient with a tumor or history of tumor (Endocr. Pract. 2013;19:e83-e87)  相似文献   

14.
《Endocrine practice》2012,18(5):e102-e105
ObjectiveTo describe a patient with a bronchogenic cyst that was erroneously diagnosed as an adrenal tumor and the surgical management strategy to address the operative challenges.MethodsWe summarize the clinical presentation, diagnostic workup, surgical management, and pathologic features of the study patient and review the pertinent literature.ResultsIn this report, we present the case of a 23-year-old woman who underwent retroperitoneoscopic exploration after imaging identified an enlarging left adrenal lesion. Preoperative biochemical testing confirmed that the mass was nonfunctional. No lesion was found after a thorough retroperitoneoscopic exploration under standard high insufflation pressure. Serendipitously, low-pressure inspection for hemostasis after failed exploration enabled discovery of an intradiaphragmatic mass that proved to be a bronchogenic cyst rather than an adrenal tumor. Not only was this a difficult operative dilemma, but it was also an unusual presentation for this tumor.ConclusionsDiscovery of a retroperitoneal or intradiaphragmatic bronchogenic cyst is a rare occurrence. The unusual location and tumor characteristics contributed to near surgical failure. The fortuitous surgical strategy of lowpressure inspection allowed visualization of the tumor for definitive resection. (Endocr Pract. 2012;18:e102-e105)  相似文献   

15.
《Endocrine practice》2011,17(1):108-114
ObjectiveTo add to the current scant literature on rare clinical presentations of Sheehan syndrome.MethodsWe describe the study patient’s clinical, laboratory, and imaging findings and review the literature for publications regarding varied clinical presentations of Sheehan syndrome.ResultsA 36-year-old multigravida woman developed severe postpartum hemorrhage and disseminated intravascular coagulation followed by Sheehan syndrome, with central diabetes insipidus as the primary presenting feature. This was diagnosed when, postoperatively, she developed polyuria with a urine output of 11 L in 24 hours with an accompanying rise in creatinine. She had laboratory evidence of diabetes insipidus, with serum osmolality greater than urine osmolality. Her clinical status improved significantly with intranasal desmopressin supplementation, thus confirming the diagnosis of Sheehan syndrome. Although Sheehan syndrome is a known complication of postpartum hemorrhage, central diabetes insipidus is seldom considered or suspected. Hypovolemia is usually presumed to be secondary to blood loss and polyuria resulting from a diuretic phase of acute renal failure.ConclusionsIt is important to consider posterior pituitary ischemia resulting from Sheehan syndrome presenting as central diabetes insipidus as a cause of polyuria because appropriate hormonal replacement initiated early can possibly improve clinical status and patient outcomes. (Endocr Pract. 2011;17:108-114)  相似文献   

16.
《Endocrine practice》2014,20(1):e1-e3
ObjectiveWe report a case of thyrotoxicosis following minimally invasive parathyroidectomy.MethodsCase report with literature review.ResultsA 70-year-old woman with primary hyperparathyroidism developed thyrotoxicosis 2 weeks following minimally invasive radio-guided parathyroidectomy. A diagnosis of postparathyroidectomy transient thyrotoxicosis (PTT) was made after excluding other causes of thyrotoxicosis. The patient reverted back to a euthyroid state in 4 weeks with conservative management.ConclusionPTT should be considered in the differential diagnosis in patients developing features of thyrotoxicosis following parathyroidectomy. (Endocr Pract. 2014;20:e1-e3)  相似文献   

17.
《Endocrine practice》2008,14(4):422-425
ObjectiveTo describe a case of Graves ophthalmopathy developing years after subtotal thyroidectomy and radioactive iodine treatment of papillary thyroid cancer.MethodsWe present a case report including clinical and laboratory data. Current relevant literature is reviewed and summarized with regard to Graves ophthalmopathy.ResultsIn 2001, a 51-year-old woman presented with an asymptomatic thyroid nodule. Fine-needle aspiration biopsy results showed Hürthle cells, and the patient had a subtotal thyroidectomy in 2002. Stage 2 follicular variant of papillary thyroid carcinoma was diagnosed. She received radioactive iodine (I 131) therapy (94.8 mCi and 147.2 mCi) in 2003. Thyrotropin was suppressed with levothyroxine. The patient remained asymptomatic and had undetectable thyroglobulin antibodies. In 2007, her eyes became irritated (ie, erythematous, pruritic, watery). Thyroperoxidase and thyroglobulin antibodies were undetectable, but thyrotropin receptor antibody was elevated to 44% (reference range, < 16%). On physical examination, moderate periorbital edema and conjunctival injection were present; orbital magnetic resonance imaging was normal. Computed tomography of her orbits showed symmetric bilateral exophthalmos and prominence of orbital fat. Other ophthalmologic etiologies were ruled out by 2 independent ophthalmologists. She had minimal improvement with oral and intravenous steroids. Subsequent treatment with methotrexate resulted in marked symptomatic improvement and lowered the thyrotropin receptor antibody level to 24%.ConclusionsIsolated Graves ophthalmopathy in a patient after treatment of thyroid cancer and radioactive iodine ablation has not been previously reported. Methotrexate therapy may be a useful therapeutic approach in this setting. (Endocr Pract. 2008;14:422-425)  相似文献   

18.
《Endocrine practice》2007,13(7):758-763
ObjectiveTo illustrate a case of lithium-associated primary hyperparathyroidism, thyrotoxicosis, and nephrogenic diabetes insipidus and to discuss the potential mechanisms for these complications.MethodsWe describe the clinical and laboratory findings in our current patient and review the related medical literature.ResultsA 65-year-old Chinese woman with bipolar affective disorder, who had received maintenance lithium therapy for 10 years, was seen in an acute care hospital because of fever and confusion. Investigations showed that she had primary hyperparathyroidism and hyperthyroidism. She underwent a parathyroidectomy, which revealed a parathyroid adenoma. Her initial subclinical hyperthyroidism evolved into overt hyperthyroidism after use of lithium was discontinued. Therapy was initiated with carbimazole, which was up-titrated briefly; the patient was subsequently weaned off this medication. Her postoperative course was complicated by persistent polyuria in conjunction with a negative fluid balance, consistent with nephrogenic diabetes insipidus. Thus, amiloride therapy was instituted. The results of an objective causality assessment suggested that the primary hyperparathyroidism, hyperthyroidism, and nephrogenic diabetes insipidus were possibly or probably related to the lithium therapy.ConclusionLithium remains an intriguing drug with numerous potential endocrinologic complications. It is important that clinicians prescribing lithium are aware of its side effects and have a strategy for their detection and management. (Endocr Pract. 2007;13:758-763)  相似文献   

19.
ObjectiveWe present a case of papillary thyroid carcinoma arising from struma ovarii treated erroneously as ovarian adenocarcinoma for more than 3 years.MethodsWe report clinical, surgical, laboratory, and imaging findings of the study patient and review the relevant literature.ResultsA 64-year-old woman was treated for ovarian adenocarcinoma for more than 3 years before it was determined that she likely had papillary thyroid carcinoma arising from struma ovarii. This is the first reported case of thyroid carcinoma arising from struma ovarii in a patient with a history of bilateral salpingo-oophorectomy. Possible etiologies include residual ovarian tissue after oophorectomy, ectopic thyroid, or metastatic thyroid cancer.ConclusionsIt is important to include struma ovarii and thyroid carcinoma arising from struma ovarii in the differential diagnosis, even with a history of bilateral salpingo-oophorectomy. This case emphasizes the importance of effective communication among the pathologist, oncologist, and surgeon to ensure timely initiation of appropriate therapy and reduced patient morbidity. (Endocr Pract. 2012;18:e1-e4)  相似文献   

20.
《Endocrine practice》2012,18(6):e147-e150
ObjectiveTo report a rare case of apoplexy in a microprolactinoma during pregnancy.MethodsWe present the initial clinical manifesta tions, laboratory results, radiologic findings, and man agement in a patient who had pituitary apoplexy during early pregnancy. The pertinent literature and management options are also reviewed.ResultsA 37-year-old woman with a history of a microprolactinoma presented during the 16th week of her first pregnancy with a sudden onset of severe headache, nausea, vomiting, and blurred vision. Magnetic resonance imaging showed a sellar heterogeneous mass with supra sellar extension and contact with the optic chiasm, com patible with adenoma apoplexy. The patient’s visual fields were normal. Conservative management was followed by rapid clinical improvement and a notable regression of the sellar mass after 5 weeks of cabergoline therapy. Uneventful pregnancy resulted in the delivery of a healthy baby. Repeated magnetic resonance imaging was per formed 1 week after delivery and showed resolution of the microadenoma. At 3 months after delivery, the patient had recovered regular menses and had sustained normal prolac tin levels without treatment.ConclusionThis case illustrates a rare occurrence of apoplexy in a microprolactinoma during pregnancy, which was managed conservatively and led to a complete regression of the pituitary tumor. 3Endocr Pract. 2012;18:e147-e150)  相似文献   

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