1/308. 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) |
2/308. 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 = 0.037223060719601keywords = bone (Clic here for more details about this article) |
3/308. A case of zollinger-ellison syndrome produced by gastrinoma in the duodenum accompanied with multiple endocrine neoplasia type 1.A case of zollinger-ellison syndrome produced by gastrinoma in the duodenum accompanied by multiple endocrine neoplasia type-1 (MEN-1) is reported. A 46 year-old female underwent distal gastrectomy due to gastric ulcer 5 years ago. As ulceration of the residual stomach recurred, further examination was performed. hyperprolactinemia, hypergastrinemia, primary hyperparathyroidism, pancreatic tumor, and duodenal carcinoid were evident, and the diagnoses of zollinger-ellison syndrome and MEN-1 were established. The origin of the gastrin secretion was suspected to be from the pancreatic tumor, so sampling of the portal blood was performed. As lesion on the gastrinoma in the pancreas could not be identified, total parathyroidectomy was performed for primary hyperparathyroidism. The level of the gastrin secretion, however, remained high. Partial resection of the duodenum for the duodenal carcinoid and a distal pancreatectomy were carried out concurrently. Immunohistochemical study of the anti-gastrin antibody revealed duodenal tumor cells. Initially, the gastrinoma was thought to be in the pancreas, however, the lesion accompanied with MEN-1 and the zollinger-ellison syndrome had occurred in the duodenum.- - - - - - - - - - ranking = 5keywords = endocrine (Clic here for more details about this article) |
4/308. A family of MEN1 with a novel germline missense mutation and benign polymorphisms.The gene responsible for multiple endocrine neoplasia type 1 (MEN1) has recently been cloned, and its germline mutations were identified in patients with this syndrome. The majority of the mutations, frameshift or nonsense mutations, are expected to result in a loss of function of the gene product menin. Since the consequence of less common missense or in-frame deletion mutations is not clear, careful judgment is necessary regarding the role(s) of such mutations in MEN1 disease. Here we describe a large multigenerational MEN1 family with a novel germline missense mutation and three benign polymorphisms. The proband was a man with hyperparathyroidism and thymic carcinoid. We performed biochemical studies and dna analyses of the MEN1 gene simultaneously and independently as family screening studies. Seven patients including the proband were identified, and all of them carried a heterozygous germline missense mutation E45G, but 5 members with normal biochemical results did not. This mutation was not observed in 50 normal volunteers. This novel missense mutation is therefore almost conclusively responsible for the disease. Although all of the mutant gene carriers in the present study already had clinical diseases, an MEN1 gene analysis in younger individuals at risk would be very useful in identifying carriers before the onset of the symptoms.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
5/308. 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 = 0.1116691821588keywords = bone (Clic here for more details about this article) |
6/308. 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 = 0.1116691821588keywords = bone (Clic here for more details about this article) |
7/308. Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia.Familial hyperparathyroidism (FHPT) is a hereditary disease where hyperparathyroidism (HPT) is transmitted in an autosomal dominant fashion. FHPT consists of a variety of diseases such as multiple endocrine neoplasia type1 (MEN 1) and type2 (MEN 2), familial isolated hyperparathyroidism (FIHPT) with single adenoma and with multiple adenomas (or hyperplasia), and FHPT with jaw-tumor (FHPT-JT). Isolation of the genes responsible for MEN1, and 2, i.e. MEN1 and RET, respectively, makes it possible to examine the relations among disorders constituting FHPT. We studied germ-line mutations in these 2 genes in a family of FHPT with single parathyroid adenoma. The disorder in this family was proved to be an entity different from MEN1 because no germ-line mutations in MEN1 gene were found in the affected members. The loss of heterozygosity (LOH) at MEN1 gene and PYGM were not found in the abnormal parathyroid in this family, supporting the above conclusion. No mutations in exons 10, and 11 of RET proto-oncogene was found in germ-line dna of the affected member of the family, suggesting no relation to MEN2A. Linkage study excluded the possibility of FHPT-JT syndrome. PRAD1 was not overexpressed in the parathyroid tumors in this family. The relation of this disorder to FIHPT with multiple enlarged parathyroid glands remains to be clarified. A search for the gene(s) predisposing to FIHPT is needed.- - - - - - - - - - ranking = 5keywords = endocrine (Clic here for more details about this article) |
8/308. Rapid improvement of osteoporosis following parathyroidectomy in a premenopausal woman with acute primary hyperparathyroidism.We describe a premenopausal white woman with symptomatic acute primary hyperparathyroidism and marked osteoporosis. After undergoing a parathyroidectomy, the patient experienced not only rapid symptomatic relief, but also marked improvement in bone mineral density, which increased by 25% in the hip and by 22% in the lumbar spine 1 year after the surgery. Acute primary hyperparathyroidism should be considered in any patient with severe symptomatic hypercalcemia. Appropriate treatment with early parathyroidectomy can result in significant and rapid improvement in bone mineral density.- - - - - - - - - - ranking = 0.074446121439202keywords = bone (Clic here for more details about this article) |
9/308. lithium therapy, hypercalcemia, and hyperparathyroidism.lithium is a monovalent cation that influences calcium metabolism in various tissues including the brain, kidney, heart, and parathyroid gland. Mr. A received treatment with lithium for 19 years because this medication proved to be effective in the management of his bipolar illness. However, he developed hypercalcemia, hypertension, and episodes of severe bradyarrhythmia (one of them requiring admission to the medical intensive care unit), with lithium levels within the therapeutic range. An extended endocrine workup showed hyperparathyroidism, with elevated serum parathyroid hormone levels, hypercalcemia, hypocalciuria, and normal serum phosphate levels. These biochemical findings are different from those of primary hyperparathyroidism and are attributed to direct actions of the lithium in the kidney. Discontinuation of the lithium did not result in reversal of the abnormal findings. The patient had surgery, and hyperplasia of the parathyroid gland was found. After parathyroidectomy, the bradyarrhythmia subsided and the patient showed improvement both in his psychiatric condition and hypertension. Preliminary observations in nine other lithium-induced hypercalcemic patients show a high frequency of arrhythmias with bradycardia and conduction defects. These findings suggest that hypercalcemia with lithium increases the risk of cardiac arrhythmia and emphasize the need for regular laboratory and electrocardiographic monitoring of patients on maintenance lithium therapy.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
10/308. A novel germline mutation of multiple endocrine neoplasia type 1 (MEN1) gene in a Japanese MEN1 patient and her daughter.Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited disorder characterized by tumors of the parathyroid, anterior pituitary and gastro-entero-pancreatic endocrine tissues. The MEN1 gene has recently been cloned and its germline mutations have been considered to play an important role in the tumorigenesis of MEN1. We analyzed a Japanese MEN1 patient and her daughter for germline mutations of the MEN1 gene. The proband (60 y.o.) had primary hyperparathyroidism (PHP) and gastrinoma, and her daughter (30 y.o.) had prolactinoma. Clinical examinations revealed no evidence of PHP in the daughter. We identified a novel heterozygous germline mutation (712 A del) at codon 201 in exon 3 of the MEN1 gene in the proband. Restriction digestion analysis revealed the same mutation pattern in her daughter. These findings suggest that this family has familial MEN1 including a rare case of MEN1 with a single lesion of the pituitary. Genetic examinations are useful as diagnostic tools for any rare or variant case of familial MEN1.- - - - - - - - - - ranking = 6keywords = endocrine (Clic here for more details about this article) |
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