Cases reported "Hyperparathyroidism"

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1/124. Regulatory hyperparathyroidism: the role of C-cell hyperplasia.

    Four cases with clinical and biochemical evidence of hyperparathyroidism are reported. The syndrome was due to DHT-intoxication of iatrogenic origin in the first case to histologically confirmed C-cell hyperplasia of the thyroid in the three others. The collective term "regulatory hyperparathyroidism" is porposed for the syndromes which, in distinction to secondary parathyroidisms, have a pathogenesis other than a negative calcium balance. Management of the syndrome is discussed with particular emphasis on the removal of the TCT-producing hyperplasia or adenoma, and the restoration of the electrolyte balance.
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2/124. 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.
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3/124. 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.
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4/124. Severe hyperparathyroidism with hypercalcemia associated with chronic renal failure at pre-dialysis stage.

    We report a case of a 23-year-old Japanese woman who had severe hyperparathyroidism associated with chronic renal failure before the start of dialysis treatment. Her chief complaints were swelling and pain in both shoulders. Laboratory examination revealed renal failure (BUN 134 mg/dl, serum Cr 7.3 mg/dl), severe normocytic normochromic anemia (hemoglobin 4.3 g/dl), hypercalcemia (11.8 mg/dl), and hyperphosphatemia (9.7 mg/dl). serum PTH levels were extremely increased (intact PTH >1,000 pg/ml: normal range 10-50 pg/ml). X-ray examination of the skull and shoulders showed a salt and pepper appearance, and cauliflower-like deformity of the distal end of both clavicles, respectively. Accelerated ectopic calcification was observed in the costal cartilages, internal carotid arteries, and splenic arteries. Ultrasonographic examination revealed enlargement of the four parathyroid glands. thallium-technetium subtraction scintigraphy of the parathyroid glands showed increased uptake into the upper two. Renal needle biopsy revealed severe impairment of the interstitium and tubules with much milder changes in glomeruli. The etiology of the renal failure could not be identified. Hemodialysis, total parathyroidectomy and auto-transplantation into the forearm were immediately performed. The pathological diagnosis was chief cell hyperplasia of the parathyroid glands. Based on the presence of chronic renal failure, remarkable hyperphosphatemia with mild hypercalcemia, an unusually high level of serum PTH, and accelerated ectopic calcification, the patient was diagnosed to have severe secondary hyperparathyroidism caused by chronic renal failure with major impairment of the renal interstitium and tubules.
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5/124. Co-existence of osteogenesis imperfecta and hyperparathyroidism.

    osteogenesis imperfecta (OI) and hyperparathyroidism (HTP) are disorders affecting the skeletal system and calcium metabolism not evidently related to one another. We report a case in which both OI and HPT were present. Our female patient presented with hypercalcaemia (S-Ca2 1.59 mmol/l; normal range 1.15-1.30) and 4-gland parathyroid hyperplasia at 30 years of age. Since her first year she had fractures, blue sclera, hypermobile joints, short stature (height 1.51 m, weight 49.5 kg) but normal hearing, and dentiogenesis imperfecta (tooth disease caused by defective formation of dentin) was absent. This patient bears many similarities with the 5 patients reported previously but it is the only patient, to our knowledge, with OI and early onset of HPT (30 year old female). We have found the OI to be type 1. A minor improvement of the rate of bone turnover 10 months after parathyroidectomy indicates the HPT to be primary and suggests the OI type 1 and pHPT to be two different calcium metabolic diseases incidentally occurring in the same patient.
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6/124. color-Doppler in the imaging work-up of primary hyperparathyroidism.

    Primary hyperparathyroidism (PHP) is a rare disease that must be suspected in all the cases of recurrent calcium nephrolithiasis, and that may be totally corrected by surgery. The imaging techniques permit to locate the hyperplastic gland or adenoma before intervention, but their usefulness in patients without a history of previous neck surgery is still debated. Several imaging techniques have been proposed with the aim of locating parathyroid hyperfunctioning glands, including high resolution sonography (US) with color-Doppler (CD), scintigraphy, computed tomography (CT) and magnetic resonance imaging (MRI). We report here a case of recurrent calcium oxalate nephrolithiasis sustained by PHP, which demonstrates how US coupled with CD and echocontrast enhancement is useful in the preoperative location of parathyroid glands. US is the first choice technique in the evaluation of PHP because it is less expensive and useful in detailing lesions of the neck when carried out by a skilled operator. CD should be regarded as a useful complement of US enhancing its sensitivity (80 vs 90%) especially in the cases of associated thyroid gland diseases. Tc-99m SESTAMIBI scintigraphy coupled with MRI is mandatory in high risk surgical patients, namely in those undergoing repeated neck surgery. In conclusion, considering that surgeon must explore all the four parathyroid glands (because of the possibility of multiple adenomas or hyperplasia) a well definite location of the adenomatous lesion may reduce the risks and the time of intervention, and allow the use of alternative procedures, such as videoscopic surgery. On this view and in terms of economy, only US and CD coupled with Tc-99 SESTAMIBI scintigraphy should be considered before surgery.
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7/124. Tertiary hyperparathyroidism in X-linked hypophosphatemic rickets.

    We report a case of tertiary hyperparathyroidism in an X-linked familial hypophosphatemic rickets (XLH) patient under regular calcitriol and self-adjusted large doses of oral phosphate salt (2.4-3.6 g/day in 4-5 divided doses) according to his serum phosphate level. Tertiary hyperparathyroidism is an unusual complication of XLH patients during treatment. As there is growing evidence that a high phosphate diet may induce hyperplasia of the parathyroid glands, it is important to avoid the stimulation of the parathyroid glands by high doses of phosphate administration in XLH patients. serum calcium, phosphate, alkaline phosphatase, and also parathyroid hormone should be measured regularly in order to facilitate an early diagnosis of secondary hyperparathyroidism during the treatment of XLH patients, since this stage is reversible with calcitriol and reduced doses of phosphate salt.
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8/124. Graft-dependent recurrence of hyperparathyroidism: imaging with frequency amplitude and encoded Doppler sonography.

    A 48-year-old woman underwent total parathyroidectomy with autotransplantation into the left forearm due to secondary hyperparathyroidism. recurrence of hyperparathyroidism was observed 5 years later. B-mode high-resolution ultrasonography of the left forearm demonstrated an ill-defined hypoechoic lesion. Frequency- and amplitude-encoded Doppler sonography revealed marked hypervascularity, which was diagnostic for graft hyperplasia in association with the history of the patient. These findings were confirmed by scintigraphy and histological examination of the excised graft.
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9/124. Undefined complications of parathyroid adenoma, parathyroid hyperplasia (primary hyperparathyroidism), thyroid follicular adenoma, thyroid papillary carcinoma, temporal astrocytoma, cerebellar meningioma, and hemangioma of external auditory meatus and oral papilloma.

    A 59-year-old woman who had parathyroid adenoma, parathyroid hyperplasia, thyroid follicular adenoma, thyroid papillary carcinoma, astrocytoma of the right temporal lobe, cerebellar meningioma, capillary hemangioma of the left external auditory meatus and papilloma of the left upper gingiva is reported. Dynamic magnetic resonance imaging, computed tomography with contrast-enhancement and gastrofiberscopy revealed no remarkable findings in the pituitary, pancreas, adrenals, stomach or duodenum. Similar lesions were not found in any family members. Defect of the causative genes of multiple endocrine neoplasia types I and IIa, MENIN and RET was not detected. Further follow-up of this patient and family members is needed.
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10/124. Intrathyroid parathyroid gland and neonatal primary hyperparathyroidism.

    Neonatal hyperparathyroidism (NPHP) is exceedingly rare and often fatal. A neonate is presented with a serum calcium concentration of 33 mg/dL, an intrathyroid parathyroid gland, and a family history of hypocalciuric hypercalcemia (FHH). She underwent successful total parathyroidectomy. Six years later, the child is normocalcemic and developmentally normal, requiring calcium and calcitrol replacement. The results of this case support the concept that NPHP is associated with parathyroid hyperplasia and is part of a continuum that includes FHH.
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