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1/22. Brown tumor of the mandible as first manifestation of primary hyperparathyroidism: diagnosis and treatment.

    Brown tumor is one of the lesions that develop in patients with hyperparathyroidism. Any of the skeletal bones can be affected including the cranio-maxillofacial ones. Most of the times the brown tumor appears after a final diagnosis of hyperparathyroidism is made. However brown tumor can be the first clinical sign of the disease. A clinical case in which a brown tumor located in the anterior part of the mandible appears as the first sign of primary hyperparathyroidism is presented. The possible differential clinical diagnosis and the recommended treatments are revised. ( info)

2/22. Primary hyperparathyroidism and osteosarcoma: examination of a large cohort identifies three cases of fibroblastic osteosarcoma.

    To study a possible relationship between hyperparathyroidism and osteosarcoma, we reviewed 1234 osteosarcoma patients. In this cohort, only three patients had a diagnosis of both hyperparathyroidism and fibroblastic osteosarcoma. These results indicate that hyperparathyroidism is not more prevalent in patients with osteosarcoma than in the general population. However, the presence of hyperparathyroidism may modify the histologic and cytologic features of osteosarcoma. INTRODUCTION: The finding of osteosarcoma in rats receiving human PTH(1-34) raised the question of whether hyperparathyroidism might be a risk factor for development of osteosarcoma in humans. MATERIALS AND methods: To study a possible relationship between hyperparathyroidism and osteosarcoma, we reviewed the medical records of 1234 osteosarcoma patients seen at The M.D. Anderson Cancer Center since 1948. Our study focused on clinical, biochemical, radiologic, and histopathologic findings indicative of primary hyperparathyroidism and the features of osteosarcoma. RESULTS: Of the 1234 cases reviewed, 3 patients had a diagnosis of both primary hyperparathyroidism and osteosarcoma. In two cases, hyperparathyroidism preceded the osteosarcoma, and in one case, both conditions were diagnosed at the same time. In two cases with concomitant hyperparathyroidism and osteosarcoma, features of osteitis fibrocystica were identified. The third patient was treated for hyperparathyroidism 3 years before osteosarcoma was diagnosed. All three patients had histologic features of fibroblastic osteosarcoma, a type that accounts for no more than 20% of osteosarcomas. To assess whether the prevalence of hyperparathyroidism was greater than expected in the normal population, we compared the age- and sex-specific prevalence in our cohort to a population of healthy individuals in Tromso, norway. This analysis showed no significant differences between the two populations, despite the fact that a higher prevalence of hyperparathyroidism (6.9% versus 1.6%) was noted in the 60- to 69-year-old female osteosarcoma age group. CONCLUSIONS: Our results indicate that hyperparathyroidism is not more prevalent in affected individuals with osteosarcoma than in the general population. The finding of fibroblastic osteosarcoma in all three patients raises the question of whether coexistent hyperparathyroidism may modify the cytologic and histologic features of the malignancy. ( info)

3/22. Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.

    More than 99% of all splice sites conform to consensus sequences that usually include the invariant dinucleotides gt and ag at the 5' and 3' ends of the introns, respectively. We report on the utilisation of a non-consensus (non-canonical) donor splice site within exon 1 of the HRPT2 gene in familial isolated primary hyperparathyroidism (FIHP). HRPT2 mutations are more frequently associated with the hyperparathyroidism-jaw tumour syndrome (HPT-JT). patients with FIHP were identified to have a donor splice site mutation, IVS1 1 g-->a, and the consequences of this for rna processing were investigated. The mutant mRNA lacked 30 bp and dna sequence analysis revealed this to result from utilisation of an alternative cryptic non-canonical donor splice site (gaatgt) in exon 1 together with the normally occurring acceptor splice site in intron 1. Translation of this mutant mRNA predicted the in-frame loss of 10 amino acids in the encoded protein, termed PARAFIBROMIN. Thus, these FIHP patients are utilising a ga-ag splice site pair, which until recently was considered to be incompatible with splicing but is now known to occur as a rare (<0.02%) normal splicing variant. ( info)

4/22. 1,25-dihydroxyvitamin D suppresses circulating levels of parathyroid hormone in a patient with primary hyperparathyroidism and coexistent sarcoidosis.

    CONTEXT: PTH is excessively secreted to develop hypercalcemia and accelerate bone turnover in patients with primary hyperparathyroidism. PTH stimulates the production of 1,25-dihydroxyvitamin D [1,25(OH)2D] that in turn suppresses the synthesis of PTH in parathyroid cells. OBJECTIVE: The objective of the study was to clarify whether 1,25(OH)2D indeed inhibits circulating levels of PTH and influences bone turnover, even in a patient with primary hyperparathyroidism. DESIGN, SETTING, AND PATIENT: We evaluated PTH levels in a patient with primary hyperparathyroidism and coexistent sarcoidosis whose serum 1,25(OH)2D levels were independent of PTH. INTERVENTIONS AND MAIN OUTCOME MEASURES: The present case was treated with prednisolone before and after surgical resection of parathyroid adenoma, and Ca-regulating hormones and bone markers were measured. RESULTS: serum Ca and PTH levels significantly decreased after parathyroid surgery, whereas serum 1,25(OH)2D levels remained high. prednisolone administration promptly decreased serum 1,25(OH)2D levels and reciprocally increased PTH levels despite consistent serum Ca levels either before or after surgery. PTH levels were negatively correlated with serum 1,25(OH)2D levels before and after surgery. urine N-telopeptides, serum osteocalcin, and bone-type alkaline phosphatase all decreased to physiological ranges after parathyroid surgery. CONCLUSIONS: These results suggest that 1,25(OH)2D indeed inhibits the production of PTH not to exacerbate hypercalcemia in a patient with primary hyperparathyroidism. Furthermore, PTH but not 1,25(OH)2D may primarily be involved in the stimulation of bone turnover. ( info)

5/22. Spontaneous remission of primary hyperparathyroidism: a case report and meta-analysis of the literature.

    BACKGROUND: In a minority of patients, primary hyperparathyroidism spontaneously remits either by autoinfarction or by hemorrhage into or around the adenoma. We describe a case of autoparathyroidectomy occurring in a 63-year-old man 9 years after three parathyroid glands were removed during a total thyroidectomy. This case is compared with 50 previously reported cases of autoparathyriodectomy, and a meta-analysis is performed. methods: Case report, literature review, and meta-analysis were done using statistical software (SigmaStat 2.0, SPSS, chicago). RESULTS: Fifty cases of autoparathyroidectomy were summarized according to the three etiologies. The greatest biochemical aberration was found in the acute intracapsular hemorrhage group, with [Ca( )] falling from a mean 15.1 mg/dL to 8.9 mg/dL. The average drop in parathyroid hormone was 69% across all groups, comparing favorably to surgical resection. CONCLUSIONS: Autoparathyroidectomy is a rare but described outcome of unoperated primary hyperparathyroidism that may delay or supplant operative management. ( info)

6/22. A case of adrenocorticotropin-independent bilateral adrenal macronodular hyperplasia (AIMAH) with primary hyperparathyroidism (PHPT).

    We report a rare case of ACTH-independent macronodular adrenal hyperplasia (AIMAH) with primary hyperparathyroidism (PHPT). A 57-year-old woman was admitted to our hospital for further examination of secondary hypertension and bilateral adrenal macrotumors. Midnight serum cortisol elevation with undetectable plasma ACTH, increased 24-hour urinary free cortisol excretion, and loss of the normal circadian rhythm in cortisol secretion established the diagnosis of Cushing's syndrome. Total resection of the enlarged left adrenal gland was performed with subsequent steroid replacement. Her general condition improved but serum calcium level increased 3 weeks after surgery. PHPT was diagnosed on the basis of endocrinological examination, although imaging studies failed to detect parathyroid lesion. In summary, we believe this to be the first report of a case of AIMAH with PHPT. ( info)

7/22. Primary hyperparathyroidism related to a parathyroid adenoma: the dramatic clinical evolution of a misdiagnosed patient and its surgical solution.

    Primary hyperparathyroidism is a clinical condition related to an excessive and abnormally regulated secretion of parathyroid hormone (PTH) from the parathyroid glands which is responsible for an alteration of the calcium and phosphorus metabolism. Parathyroid adenomas are the most important cause of primary hyperparathyroidism (80-85%). A case of parathyroid adenoma observed in a patient aged 47, admitted to the emergency medicine Department of our Hospital with a diagnosis of hypertensive crisis, cephalea, vomiting, and a clinical history of recurrent episodes of severe abdominal and renal pain, is presented. Lab data showed severe hypercalcemia and a progressive worsening of the renal function. A severe neurological involvement with stupor, derangement of mind, the arising of acute respiratory depression, lethargy compelled the colleagues to transfer him to the intensive care Unit; a neck ultrasonography showed a poor-echogenous area under the right thyroid inferior pole, with signs of vascularization. The suspect of a primary hyperparathyroidism related to a single adenoma of the parathyroid gland suggested a surgical treatment. A ''concise parathyroidectomy'' was performed. Our surgical approach was confirmed by the comparison of the preintervention and the post-intervention iPTH values: 2080 pg/mL (normal range: 12-65 pg/mL) before excision vs 101 pg/mL after the removal. The histologycal exam reported a parathyroid adenoma with large areas with haemorrage. Three days after surgery the patient was in good general conditions. patients affected by primary hyperparathyroidism are often misdiagnosed because their clinical conditions can create differential diagnosis problems with other diseases. However the surgical option remains the gold standard treatment. ( info)

8/22. Ultrasound-guided laser thermal ablation for parathyroid adenomas: analysis of three cases with a three-year follow-up.

    BACKGROUND: In patients with primary hyperparathyroidism (pHPT) the therapeutical choice is surgery. In patients with high surgical and anesthetic risks, ultrasound-guided laser ablation (LTA) of parathyroid adenoma has been reported to reduce parathyroid hormone (PTH) hypersecretion without relevant side effects. No data are available from patients followed for >6 months. We report our 3-year follow-up experience with LTA in 3 patients affected by pHPT due to a parathyroid tumor. methods: LTA was performed under color-Doppler ultrasound guidance with a continuous pulse at 2 W (total treatment duration: 300 s in each session; total energy: 1,200 J in two sessions). RESULTS: In the first patient who refused to undergo the second LTA session, calcium, PTH levels and parathyroid lesion volume showed a slight reduction, returning to baseline values in a month. In the second patient, no modification of parathyroid lesion was obtained even if calcium levels temporarily normalized. In the third patient, LTA led to normalization of calcium and PTH levels and to a 99% reduction of parathyroid volume. CONCLUSION: After LTA procedures the long-term disease remission of pHPT is achievable in a minority of patients. Data from larger samples are needed to verify the usefulness of this procedure. ( info)

9/22. Severe vitamin d deficiency in Hawai'i: a case report.

    Severe vitamin d deficiency would appear unlikely to occur in Hawai'i, which has abundant year-round sun exposure. This case report of a woman with no obvious risk factors for vitamin d deficiency who was found to have severe vitamin d deficiency and coexisting primary hyperparathyroidism should alert health care providers to be more aware of vitamin d deficiency in Hawai'i. ( info)

10/22. Twice-recurrent primary hyperparathyroidism due to parathyroid hyperplasia in an ectopic supernumerary gland.

    OBJECTIVE: To describe a patient with multiple recurrences of primary hyperparathyroidism during a 24-year period. methods: We present the long-term history, including clinical and laboratory evaluations as well as findings on surgical interventions, in a 42-year-old man with recurrent hyperparathyroidism. In addition, the relevant literature is briefly reviewed. RESULTS: At initial surgical exploration when the patient was 18 years old, a single enlarged parathyroid gland and a normal-appearing ipsilateral gland were found. After more than a decade without symptoms, the patient experienced recurrent symptomatic hypercalcemia. Surgical exploration revealed symmetric multiglandular disease that was treated by resection of 3 enlarged parathyroid glands and implantation of a portion of 1 gland in the forearm. After another 6-year asymptomatic period, the patient had recurrent symptoms and was found to have recurrent hypercalcemia. Surgical intervention revealed an enlarged supernumerary gland in an ectopic location. A preoperative technetium tc 99m sestamibi scan and intravenous administration of methylene blue were helpful in identifying the ectopic parathyroid gland in the left carotid sheath. CONCLUSION: This case illustrates the difficulty of determining which of a patient's parathyroid glands may become hyperfunctioning and the importance of considering whether supernumerary glands may be present. The case also demonstrates the need for long-term follow-up before a patient is considered "cured" of hyperparathyroidism. ( info)
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