1/431. The elevated serum alkaline phosphatase--the chase that led to two endocrinopathies and one possible unifying diagnosis.A 39-year-old Chinese man with hypertension being evaluated for elevated serum alkaline phosphatase (SAP) levels was found to have an incidental right adrenal mass. The radiological features were characteristic of a large adrenal myelolipoma. This mass was resected and the diagnosis confirmed pathologically. His blood pressure normalised after removal of the myelolipoma, suggesting that the frequently observed association between myelolipomas and hypertension may not be entirely coincidental. Persistent elevation of the SAP levels and the discovery of hypercalcaemia after surgery led to further investigations which confirmed primary hyperparathyroidism due to a parathyroid adenoma. The patient's serum biochemistry normalised after removal of the adenoma. The association of adrenal myelolipoma with primary hyperparathyroidism has been reported in the literature only once previously. Although unconfirmed by genetic studies this association may possibly represent an unusual variation of the multiple endocrine neoplasia type 1 syndrome.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
2/431. Lessons to be learned: a case study approach. Primary hyperparathyroidism simulating an acute severe polyneuritis.The case is presented of a 65 year old lady with recent onset of neuromuscular manifestations, comprising paraparesis, areflexia and unsteady gait, along with episodes of slurring of speech and diplopia, later confirmed to be due to severe hypercalcaemia--which itself was caused by primary hyperparathyroidism. Restoration of normocalcaemia, by means of rehydration and bisphosphonate therapy, resulted in clinical improvement--whilst subsequent parathyroidectomy was followed by complete resolution of all symptoms. In order to make prompt differentiation between the neurological sequelae of hyperparathyroidism and a primary neurological disorder, a high index of suspicion is required. An urgent serum calcium assay, as part of a bone profile, is mandatory in patients who present with neurological symptoms--especially the elderly, amongst whom hyperparathyroidism is especially common.- - - - - - - - - - ranking = 0.0049776482948677keywords = bone (Clic here for more details about this article) |
3/431. acromegaly in a family without a mutation in the menin gene.Familial pituitary tumors are rare. Only 45 cases in 20 families with acromegaly have been reported. A third of the cases (30%) is related to multiple endocrine neoplasia type 1 (MEN 1). We report two cases of acromegaly in one family with pituitary macroadenomas. A 46-year-old woman with elevated serum growth hormone (GH) and insulin-like growth factor (IGF-1) and a failure to supress GH in the glucose tolerance test underwent transsphenoidal surgery 4 years ago. Three years later her 24-year-old son also presented with typical signs of acromegaly. A pituitary macroadenoma was identified by MRT and he also underwent transsphenoidal surgery. There were no symptoms of McCune-Albright syndrome or other forms of endocrine hyperfunction in the two patients. In an attempt to identify the molecular etiology of the tumours dna was extracted from paraffin fixed tissue from both patients. Exon 7 to 13 of the Gsp-protein and exons 1 to 10 of the menin gene were amplified by PCR. Although Gsp mutations have been identified in 40% of somatotroph tumors, direct sequencing of the PCR products showed no mutations in exons 7 to 13 of Gs alpha. Moreover no mutations were found in exons 1 to 10 of the menin gene. Therefore, molecular causes other than Gsp or menin gene mutations have to be considered as the molecular etiology of acromegaly in this family.- - - - - - - - - - ranking = 2keywords = endocrine (Clic here for more details about this article) |
4/431. Unusual MRI finding of multiple adenomas in the pituitary gland: a case report and review of the literature.The simultaneous occurrence of multiple adenomas in the pituitary gland is a rare event. We report the coexistence of three non functioning pituitary microadenomas in a 37-year-old woman, referred to us for oligomenorrhea and headache. Biochemical evaluation revealed prolactin (131 U/liters), follicle-stimulating hormone (4.1 U/liters), luteinizing hormone (3.9 U/liters), 17beta-estradiol (74 pg/mL), free (2.0 pg/mL) and total testosterone (0.5 ng/mL), dehydroepiandrosterone-sulfate (3.5 microg/mL), 17OH-progesterone (0.8 ng/mL), cortisol (13.1 microg/dL), free triiodothyronine (4.8 pmol/L), free thyroxine (18.5 pmol/liters), thyrotropin (1.6 mU/L), and growth hormone (0.2 ng/mL) levels in the normal range, as for as the response to dynamic endocrine tests. MRI showed an enlarged sella turcica, occupied by three distinct hypointense areas that measured less than 5 mm in diameter in the left, medium and right side of the pituitary, respectively. This finding was confirmed 6 months later by a second MRI that revealed also a light increase in microadenomas dimensions. The patient, therefore, underwent neurosurgery by transfenoidal approach. Histologic examination showed no morphologic differences between the specimens obtained from the different microadenomas. immunohistochemistry evaluation revealed a positive staining for the common alpha-subunit of glycoproteic hormones and negative for the other pituitary hormones tested, while electron microscopy showed cells with a poor secretory apparatus and a variable grade of cell differentiation. In conclusion, we report the fifth case described with multiple pituitary adenomas diagnosed in vivo and the first with three coexisting tumors revealed by MRI before neurosurgery. The occurrence of multiple pituitary tumors emphasizes the role of pituitary and extrahypophiseal factors in the clonal expansion of genetically altered cells.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
5/431. Metanephric adenoma-like tumors of the kidney: report of 3 malignancies with emphasis on discriminating features.BACKGROUND: Metanephric adenoma is a very rare benign renal tumor; only 80 well-documented cases have been reported to date. We have seen several renal tumors that were originally incorrectly diagnosed as metanephric adenoma. DESIGN: We present 3 unusual renal tumors (2 primary and 1 metastatic), each of which illustrates important pathologic features useful in discriminating metanephric adenoma from malignant mimics. RESULTS: Case 1 involved a 46-year-old man with multiple small, cortical, solid, papillary (chromophil) renal cell carcinomas in his right kidney; the patient developed multiple, histologically identical, solid, papillary (chromophil) carcinomas in the opposite kidney 17 months later. Case 2 involved a 32-year-old woman with a 14-cm right renal tumor who developed soft tissue and bone metastases over a 17-year period. Case 3 involved a 52-year-old woman who presented with a 1.8-cm corticomedullary renal nodule, which eventually proved to represent a metastasis from a poorly differentiated (insular) carcinoma of the thyroid. All 3 tumors superficially resembled metanephric adenoma and consisted of primitive, dark-staining cells arranged in tubules or sheets. Each tumor, however, also had features inconsistent with the diagnosis of metanephric adenoma, including multifocal lesions with a variable nuclear-cytoplasmic ratio and diffuse cytokeratin 7 and epithelial membrane antigen immunopositivity in case 1, a 14-cm-diameter tumor with occasional mitoses in case 2, and a distinct fibrous capsule with capsular and vascular invasion in case 3. In addition, all 3 tumors lacked the cytologic features of bland overlapping nuclei with imperceptible cytoplasm consistently seen in metanephric adenoma. CONCLUSION: Adherence to strict histopathologic criteria will discourage misdiagnosis of a malignant or potentially malignant renal neoplasm as the rare and always benign metanephric adenoma.- - - - - - - - - - ranking = 0.0049776482948677keywords = bone (Clic here for more details about this article) |
6/431. carcinoma of the thyroid gland, adenoma of the adrenal cortex and peptic ulcer: an unreported association.A 39-year-old man, operated on for duodenal ulcer, was found to have a papillary carcinoma of the thyroid, an aldosterone-producing adenoma of the adrenal cortex, and a recurrence of a peptic ulcer. The probable coincidental occurrence of these diseases in this patient is suggested. Nevertheless, careful investigation of the other endocrine glands in patients with endocrine tumors is recommended.- - - - - - - - - - ranking = 2keywords = endocrine (Clic here for more details about this article) |
7/431. Secondary infertility as early symptom in a man with multiple endocrine neoplasia-type 1.Multiple endocrine neoplasia-type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by parathyroid hyperplasia, pancreatic endocrine tumours and pituitary adenomas. Here, we report a patient with a history of insulinoma who developed secondary infertility as a further symptom of the disease. When he was first examined at the age of 36 years, he complained of weakness, reduced libido and impotence. Laboratory evaluation revealed non-obstructive azoospermia and hyperprolactinaemia. In contrast to sexual activity and serum prolactin, semen quality did not significantly respond to bromocriptine therapy. During follow-up, a growing pituitary adenoma caused acromegaly with elevated serum concentrations of growth hormone, insulin-like growth factor 1 (IGF-1), and prolactin. After microsurgery of the tumour at the age of 44 years, sperm concentration persistently increased up to 5.6 x 10(6)/ml. In accordance with the clinical diagnosis of MEN1, dna sequencing revealed a mutation in exon 2 of the menin gene which results in a truncated, inactive protein product. In conclusion, MEN1 with pituitary lesions may cause severe hypogonadism and infertility. Both hyperprolactinaemia and overproduction of growth hormone and IGF-1 seem to be involved in testicular dysfunction in the present case. The possible role of menin in the testis, however, remains to be elucidated.- - - - - - - - - - ranking = 6keywords = endocrine (Clic here for more details about this article) |
8/431. Cytogenetic and CGH studies of four neuroendocrine tumors and tumor-derived cell lines of a patient with multiple endocrine neoplasia type 1.A malignant insulinoma (LOHG-I), a carcinoid of the lung (LOHG-L), a parathyroid adenoma (LOHG-NSA), and a fibroma (LOHG-F) were obtained from a patient with multiple endocrine neoplasia type 1 (MEN1). Long-term cultures were established. Essential neurobiological properties of the cell lines were proven immunocytochemically and by electron microscopy. Molecular analysis of the germline dna showed a 4 bp deletion in exon 3 of the MEN1 gene. Cytogenetic and CGH analyses of the tumors/tumor cell lines revealed diploidy and balanced and unbalanced structural aberrations different for each tumor. chromosomes 6q21, 11q and 17q were most frequently involved in clonal structural aberrations.- - - - - - - - - - ranking = 9keywords = endocrine (Clic here for more details about this article) |
9/431. Inappropriate elevation of intact PTH in the presence of normocalcemia after successful surgery for primary hyperparathyroidism.We describe here a patient with primary hyperparathyroidism who had high serum intact PTH levels for over 16 months after parathyroidectomy without signs of recurrence or persistence of the disease. The patient was a 48-year-old female who appeared well nourished (body mass index, 23.7). She was received subtotal gastrectomy as treatment for a duodenal ulcer at 44 years and 5 months old and had reached menopaused at 46 years of age. hypercalcemia and a high serum intact PTH level were pointed out three months before admission to our institute. A bone densitometric study revealed that the bone mass of the lumbar spine was extremely reduced (0.636 g/cm2, Z score, -2.17) preoperatively and had not increased 29.5 months after parathyroidal adenomectomy (0.656 g/cm2, Z score, -1.97). hyperparathyroidism, menopause and gastrectomy may have together contributed to the reduced bone mass. The postoperative persistently increased PTH levels in our patient suggest that the remaining parathyroid glands could have been altered during hypercalcemia, causing an increase in the set-point of PTH secretion by serum calcium or a decrease in the renal responsiveness to PTH during the disease.- - - - - - - - - - ranking = 0.014932944884603keywords = bone (Clic here for more details about this article) |
10/431. hypocalcemia due to spontaneous infarction of parathyroid adenoma and osteomalacia in a patient with primary hyperparathyroidism.A 49 year-old Japanese woman had subjected enlargement of a cervical tumor, and also suffered two bone fractures in 2 years. The cervical tumor had enlarged further in the month prior to admission, becoming warm and tender. Endocrinological examination revealed that the serum intact PTH concentration was remarkably high at 400 pg/mL despite the low serum calcium concentration, and that the serum vitamin Ds concentration was decreased. Bone roentgenograms revealed severe osteolytic changes compatible with osteitis fibrosa cystica and a pathologic fracture of the humerus. Under a diagnosis of primary hyperparathyroidism, parathyroidectomy was performed, followed by fixation surgery for the pathologic fracture. Histologically, the cervical tumor was a parathyroid chief-cell adenoma with massive necrosis, and the bone pathology by iliac bone biopsy revealed the existence of osteomalacia. She was treated with calcium, vitamins D and K2 and calcitonin after the surgery. This case is a rare condition manifesting hypocalcemia with catastrophic osteoporosis under the coexistence of spontaneous infarction of parathyroid adenoma with osteomalacia, suggesting that the clinical features of hyperparathyroidism are modified by both the autoparathyroidiectomy and the existence of osteomalacia due to vitamin d deficiency.- - - - - - - - - - ranking = 0.014932944884603keywords = bone (Clic here for more details about this article) |
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