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Query: UMLS:C0031511 (pheochromocytoma)
 14,622 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a case study of a patient 32 weeks pregnant who presented with multiple endocrine neoplasia type IIa, with severe pheochromocytoma complicated by adult respiratory distress syndrome. The patient's blood pressure was labile, with systolic variations from 50 to 230 mm Hg and tachycardia ranging from 150 to 180 beats per minute. The patient was treated with a variety of alpha- and beta-blockers whose efficacy is compared. Hemodynamic measures are compared with the clinical presentation. The importance of fluid replacement is discussed.
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PMID:Pheochromocytoma in the pregnant patient: a case study. 136 38

Pheochromocytoma occurs in a familial pattern in approximately 10% of patients. Although most familial pheochromocytomas are an expression of the genetic abnormality of neuroectodermal dysplasia or the genetic syndrome of multiple endocrine neoplasia, some familial pheochromocytomas occur without associated disease. Two patients with familial pheochromocytoma are described. One had an extraadrenal tumor, producing severe renal artery stenosis and in whose family pheochromocytomas were found in three successive generations. A second had multiple pheochromocytomas associated with von Hippel-Lindau disease and a family member with multiple endocrine neoplasia type 2. The combinations and permutations of these genetic entities form discrete syndromes, with other peculiar interrelationships, pathologically related to an aberration in the migration, growth, and differentiation of the neural crest cells, and emphasizing their common neuroectodermal origin. The unique features that characterize the familial pheochromocytomas and cause diagnostic and therapeutic challenges are reviewed.
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PMID:Familial pheochromocytomas with unusual associations. 152 53

We studied the increased visibility of corneal nerves inside an 8-mm diameter central corneal area in 14 patients with multiple endocrine neoplasia type 2A, one patient with multiple endocrine neoplasia type 2B, five patients with nonhereditary medullary thyroid carcinoma, ten patients with anterior keratoconus, and ten normal subjects. We used a grading system (grade 0 through grade 4) for nerve visibility based on slit-lamp biomicroscopic examination and photographic documentation. All 20 normal eyes showed either grade 0 or grade 1, which indicated no pathologic thickening of corneal nerves. Sixteen of the 28 eyes (57%) with multiple endocrine neoplasia type 2A, however, were evaluated as grade 2 or higher, which indicated thickened corneal nerves. The incidence of high nerve visibility in eyes with multiple endocrine neoplasia type 2A was significantly greater compared to normal eyes (P less than .0001), anterior keratoconus (P less than .0001), and nonhereditary medullary thyroid carcinoma (P = .0012). Furthermore, eight of the 28 eyes (29%) with multiple endocrine neoplasia type 2A showed markedly prominent corneal nerves (grade 3 and 4), a prominence similar to those seen in eyes with multiple endocrine neoplasia type 2B. There was no definite relationship among prominent nerve, age of the patient, and occurrence of pheochromocytoma. These findings suggest that over half of all patients with multiple endocrine neoplasia type 2A show corneal nerves pathologically thickened to different degrees.
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PMID:Incidence of prominent corneal nerves in multiple endocrine neoplasia type 2A. 167 53

The multiple endocrine neoplasia (MEN) syndromes are well-defined disorders characterized by familial inheritance of specific endocrine tumors. The parathyroid, endocrine, pancreas, and pituitary tumors of MEN-1 are described by frequency and symptomatology. The effectiveness of surgery, symptomatic therapy, and panendocrine suppression by the somatostatin congener octreotide are discussed. Evidence indicates that the MEN-1 gene is located on chromosome 11 and tightly linked markers can help identify family members at risk for inheriting the gene. In MEN-2, the effectiveness of biochemical screening for thyroidal C-cell neoplasms and early thyroidectomy are described. New imaging techniques have been developed to identify medullary thyroid carcinoma and pheochromocytoma in MEN-2. Genetic analysis has identified markers on chromosome 10 closely linked to the MEN-2a gene, allowing better identification of family members likely to develop the syndrome.
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PMID:Multiple endocrine neoplasia. 167 23

We studied changes of atrial natriuretic factor (ANF) and catecholamines in three patients with pheochromocytoma occurring in the familial syndrome of multiple endocrine neoplasia type IIa. Previous studies have suggested a stimulating effect of catecholamines on ANF release. In pheochromocytoma, we observed normal basal ANF levels despite increased catecholamine secretion. In contrast, a rise in plasma ANF was observed when a hypertensive paroxysm occurred. Also during surgery, dissection of pheochromocytoma led to a rise in plasma ANF and catecholamines associated with an increase in blood pressure (in the 3 cases) and in pulmonary artery pressure (in 2 cases). We concluded that chronic elevation of basal catecholamines are without effect on plasma ANF but that manipulation of pheochromocytoma leads to a stimulation of ANF release, possibly mediated by either a direct effect of endogenously released catecholamines and/or an increase in atrial pressure.
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PMID:Plasma atrial natriuretic factor and catecholamines before and during excision of pheochromocytoma. 167 62

The multiple endocrine neoplasia (MEN) syndromes are autosomally dominant inherited disorders in which hyperplastic or neoplastic changes occur in a wide variety of tissues. The specific syndromes are classified according to the endocrine glands affected. MEN type I consists of an aggregation of tumors of parathyroid, pancreatic, and pituitary glands. The association of medullary carcinoma of the thyroid (MCT) and pheochromocytoma is called MEN type II or type IIA, and if combined with mucosal neuromas, intestinal ganglioneuromatosis, and prominent corneal nerves, is named MEN type III or type IIB. Individuals afflicted with MEN type III are characterized by a marfanoid habitus, mucosal neuromas involving oral and ocular tissues, and a number of ophthalmologic findings including prominent corneal nerves, thickened eyelids, and subconjunctival neuromas. These features are easily recognized during the ocular exam, allowing the ophthalmologist to make an early diagnosis of this syndrome prior to the onset of life-threatening manifestations like medullary thyroid carcinoma and pheochromocytoma.
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PMID:Multiple endocrine neoplasia type III. 168 9

Syndrome of multiple endocrine neoplasia, type IIa, is a rare disturbance made by medullar carcinoma of the thyroid gland, pheochromacytoma and hyperparathyroidism. The article deals with three patients with multiple endocrine neoplasia, type IIa, with special emphasis to detection of the disease in time and treatment of the patients in the early phase of the illness. This is a hereditary autosomal dominant disturbance. Tests performed among members of family with high risk factors of the disease are of great importance. In this way early diagnosis is possible, and consequently, prevention of fatal issue due to pheochromocytoma and medullar carcinoma.
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PMID:[Diagnosis and monitoring of patients with type IIa multiple endocrine neoplasms]. 168 6

Pheochromocytoma is a rare adrenal medullary tumor of chromaffin cell origin that presents a syndrome of alpha- and beta-adrenergic receptor stimulation due to secretion of epinephrine and norepinephrine. This tumor occurs sporadically in the population and is also associated with multiple endocrine neoplasia syndrome type II (MEN II). Although malignant pheochromocytoma is associated with sporadic tumors, those associated with familial MEN syndromes are rarely malignant. We report a case of a rare metastatic pheochromocytoma in a patient with MEN IIA. Surgical debulking, which has been shown to benefit many patients with metastatic neuroendocrine tumors, was attempted in this patient. Palliation, with symptom relief, was provided. The options for treatment of metastatic pheochromocytoma are discussed.
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PMID:Metastatic pheochromocytoma associated with multiple endocrine neoplasia syndrome type II. 169 90

During the past 20 years (1970-90), we had 24 patients with pheochromocytoma: 19 diagnosed clinically and 5 post-mortem. Their ages ranged from 17 to 74 (mean, 43.2 years). Males (n = 14) outnumbered females (n = 10), a 1.41:1 M:F ratio. A majority were symptomatic (95%), with a typical triad of headaches, palpitations and diaphoresis. Most frequent finding was hypertension (95%). It was sustained in 60% and paroxysmal in 35%. In 6 patients (25%) pheochromocytomas were bilateral, all familial. Fifteen were solitary adrenal tumors (63%); 3 (12.5%) were extra-adrenal: 2 intra-abdominal, and 1 cardiac paraganglioma of right atrium. Of 6 familial cases, 4 were associated to Von Hippel-Lindau (VHL) disease, while 2 were multiple endocrine neoplasia (MEN-II) patients. All familial cases were bilateral and in the adrenals. There were no malignancies. Among the 19 clinical cases pre-operative Dx was made by positive urine VMA or catecholamines urine levels: (95 and 100% sensitivity respectively). Preoperative visualization by CT or MRI was done in 62% of the most recent patients. In 5 earlier cases the diagnosis was made post mortem: 3 died of cerebral hemorrhage, 1 with a pons infarct and 1 with congestive heart failure (CHF). There were 2 post-operative deaths and another died 13 years later from thyroid medullary carcinoma. Of the 19 operated, 13 (68%) were cured. Thus pheochromocytomas retain considerable morbidity and some mortality. These rare tumors constitute a clinical diagnostic challenge yet a rewarding therapeutic experience for the alert physician.
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PMID:Pheochromocytoma: a twenty year experience at the University Hospital. 177 16

Multiple endocrine neoplasia type IIA (MEN IIA) syndrome is an autosomal-dominant endocrine disorder that consists of medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia. The susceptibility gene to this disorder has been mapped to chromosome 10. However, molecular studies of tumor cells from patients with familial and sporadic MTC and/or pheochromocytoma have shown a high frequency (50%) of abnormalities on chromosome 1p. In the present study, we examined MTC or pheochromocytoma tumor specimens from eight patients (familial and nonfamilial cases) to investigate gene losses on chromosomes 1 and 10 as potential mechanisms for the tumors' development. The patients studies had homozygous genotypes in their leukocyte DNAs for the chromosome 10 marker used in this study, and the patients were, therefore, uninformative. However, the patients were informative for the chromosome 1 markers and five of the patients' tumor-cell DNAs (63%) had allelic deletions at one or multiple loci on chromosome 1p, and one tumor DNA had evidence of possible gene rearrangement; in all six cases, the abnormalities involved the distal third of chromosome 1p. Furthermore, we determined that the common break point for the 1p deletions was at 1p32. These results suggest that a tumor suppressor gene in this defined region is involved in the development/progression of MTC and pheochromocytoma by being either lost or inactivated.
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PMID:Deletion mapping on the distal third region of chromosome 1p in multiple endocrine neoplasia type IIA. 197 9


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