Cases reported "Hyperparathyroidism"

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21/65. Studies in a kindred with parathyroid carcinoma.

    We report a family with primary hyperparathyroidism in four patients in two generations with apparent autosomal dominant transmission. A fifth member was probably affected. Two cases had definite parathyroid carcinoma (PC), and two had parathyroid adenoma with atypical features that could represent an early stage of cancer. In each of our patients, one parathyroid gland was abnormal. Five other parathyroid glands (in two patients) were normal in histology and size. There was no evidence of neoplasia in other tissues. Constitutional karyotypes were normal in all four patients. We identified three chromosomal abnormalities (a reciprocal translocation between chromosomes 3 and 4, trisomy 7, and a pericentric inversion in chromosome 9) in cultured PC tissue from one patient. These chromosomal changes are of unclear significance. Analyses on tumor dna from one case of PC and one of atypical adenoma showed no evidence of ras gene mutations, PTH gene rearrangement, or allelic loss from chromosome 11q13 (locus of the gene for multiple endocrine neoplasia type 1). This family shows susceptibility to cancer without antecedent hyperplasia in all parathyroids. It could help identify a novel tumor susceptibility gene.
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keywords = dominant
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22/65. Tumor-induced hypophosphatemic osteomalacia associated with tertiary hyperparathyroidism: a case report.

    BACKGROUND: Tumor-induced hypophosphatemic osteomalacia is a syndrome characterized by urinary phosphate wasting related to the presence of a slowly-growing tumor of mesenchymal origin. The characteristic laboratory findings are normal serum calcium, marked hypophosphatemia, increased serum alkaline phosphatase, markedly reduced renal tubular reabsorption of phosphorus and inappropriately low levels of 1,25-dihydroxyvitamin D [1,25-(OH)2D]. CASE PRESENTATION: A 65-year-old woman presented with a 17-year clinical history of musculoskeletal pain, muscular weakness in the pelvic girdle, spontaneous fractures and difficulty in walking. Over the ensuing years the patient suffered other multiple spontaneous fractures, surgically treated, and the muscular pains worsened until she became bedridden. During the years before hospital admission the patient received treatment with clodronate, oral calcium salts and vitamin D therapy. Standard laboratory, ultrasonography and scintigraphic findings provided a "convenient" diagnosis of primary hyperparathyroidism, but the low plasma level of phosphorus induced to perform an Indium111-octreotide scintigraphy. Scintigraphy visualized an area of pathologic increased signal uptake in the left groin, consistent with a mass containing a high density of somatostatin receptors. After surgery, histologic examination and immunostaining of the resected specimen indicated an hemangiopericytoma. Nevertheless, the persistently low blood phosphorus level, in association with the increased serum calcium and PTH levels, were attributed to the prolonged phosphate therapy the patient underwent over the years, and the persisting abnormal laboratory indexes indicated the development of a tertiary hyperparathyroidism. We performed a subtotal parathyroidectomy and intraoperative assay of serum PTH showed that levels had diminished by more than 80% from preoperative values. Over the ensuing months Ca 2, PTH and serum phosphorus values returned to normal, and the pain symptoms disappeared. CONCLUSIONS: Tumour-induced osteomalacia is a very rare syndrome associated in 5% of cases with tertiary hyperparathyroidism due to long-term therapy with phosphorus and vitamin D. The initial diagnosis of primary hyperparathyroidism, confirmed by the parathyroid MIBI-scintigraphy, would lead us to an inappropriate surgical treatment. Therefore we want to stress the importance of In111-octreotide scintigraphy in detecting tumours, rich in somatostatin receptors, in presence of an hypophosphatemic syndrome.
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ranking = 728028.83556759
keywords = hypophosphatemic
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23/65. Tertiary hyperparathyroidism attributable to long-term oral phosphate therapy.

    OBJECTIVE: To report a rare case of tertiary hyperparathyroidism (HPT) as a result of long-term oral phosphate therapy. methods: We present a case report, with a focus on clinical manifestations and biochemical findings during the course of tertiary HPT, and discuss the pathophysiologic features of this disorder and the therapeutic strategies. RESULTS: A 35-year-old woman, 22 years after the initial diagnosis of familial hypophosphatemic rickets and initiation of treatment with phosphate and vitamin D, underwent assessment for recurrent symptomatic kidney stones, bone pain, and fatigue. Laboratory studies performed 10 months before this presentation showed findings consistent with secondary HPT. Examination was notable for short stature, and pertinent laboratory results were as follows: intact parathyroid hormone 602 pg/mL, calcium 10.9 mg/dL, and phosphorus 3.6 mg/dL. Tertiary HPT was diagnosed, and she underwent subtotal parathyroidectomy and transcervical thymectomy. Postoperatively, she had hypocalcemia and was treated with calcitriol, phosphate, and calcium carbonate; the last agent was discontinued when the serum calcium normalized. Despite multiple dosage alterations in the phosphate and calcitriol therapy, the patient had recurrent tertiary HPT and another kidney stone (treated by lithotripsy). Three years after the subtotal parathyroidectomy, treatment consisted of cinacalcet, calcitriol, and elemental phosphate. CONCLUSION: Long-term follow-up of patients with tertiary HPT is critical, with careful dosage adjustments in phosphate and vitamin D therapy and monitoring of serum levels of phosphorus, calcium, and parathyroid hormone.
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ranking = 200552.55780931
keywords = hypophosphatemic, hypophosphatemic rickets, rickets
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24/65. The importance of multiple endocrine neoplasia syndromes in differential diagnosis.

    In the differential diagnosis of endocrine symptoms, the autosomal dominant multiple endocrine neoplasia (MEN) syndromes are rare but important. We found seven index cases of MEN-I in 176 patients with adenomas of the anterior pituitary and 26 patients with primary hyperparathyroidism. Of 23 cases of medullary thyroid carcinoma and eight cases of pheochromocytoma, 14 patients are classified as MEN-IIa and one as MEN-IIb. family screening identified six MEN-I and seven MEN-II cases among 32 individuals examined. Because of autosomal dominant inheritance and sometimes-delayed manifestation of the complete syndrome, screening of healthy and affected family members should be repeated at least every other year.
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25/65. Hypercalcemic hyperparathyroidism and hypophosphatemic osteomalacia complicating neurofibromatosis.

    Neurofibromatosis is sometimes complicated by impaired renal tubular reabsorption of phosphate, hypophosphatemia, and osteomalacia. hyperparathyroidism has also been reported in patients with neurofibromatosis. When hypercalcemia and elevated levels of parathyroid hormone are found in osteomalacia, however, it may be difficult to determine if the hyperparathyroidism was primary or tertiary. We describe a patient with neurofibromatosis, hypercalcemic hyperparathyroidism, hypophosphatemic osteomalacia, vitamin d deficiency, and clear-cell hyperplasia of all four parathyroid glands. Serial biomechanical, bone biopsy, and densitometric studies confirmed that treatment with ergocalciferol, calcium, and phosphate supplements significantly improved the osteomalacia but caused increased parathyroid overactivity. After subtotal parathyroidectomy, the parathyroid hormone concentration became normal and the bone mineral content increased at the spine and hip, but inappropriate phosphaturia persisted. The findings indicate that hyperparathyroidism, osteomalacia, and vitamin d deficiency adversely affect each other.
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ranking = 606690.69630633
keywords = hypophosphatemic
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26/65. A case of McCune-Albright syndrome with hyperthyroidism and vitamin D-resistant rickets.

    A girl aged 1 11/12 year with the unusual combination of McCune-Albright syndrome (polyostotic fibrous dysplasia, cutaneous pigmentation and precocious puberty), hyperthyroidism and vitamin D-resistant rickets is described. Urinary estrogens are increased, while serum LH and FSH responses to LH-RH are subnormal. Thyroid hormone levels in serum and 131I thyroidal uptake are increased, while TSH response to TRH is decreased. serum phosphorus level is low and phosphate clearance high, while PTH is within normal range. Basal GH level and GH responses to various stimulations are high, but high basal GH is suppressed by oral glucose. The oral glucose tolerance test shows normal blood glucose with hypersecretion of insulin. These data suggest that the common pathogenesis of the various aspects of the syndrome is a hypersensitivity of the target organs, which include the pituitary, the thyroid, the gonads, the pancreatic islet cells and the proximal tubules of the kidney.
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ranking = 8695.4970839253
keywords = rickets
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27/65. Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated.

    We describe a 29-year-old male with untreated primary neonatal hyperparathyroidism. Hypotonia, poor feeding, failure to thrive, and developmental delay were noted in early infancy and in incidental serum calcium of 3.8 mmol/L was dismissed as a laboratory error. Childhood was characterized by profound muscle wasting and progressive spastic quadriparesis. Distinctive skeletal deformities, facial dysmorphism, and perichondral calcifications are now evident in adulthood. Elevated serum calcium (range: 2.7-3.3 mM; normal less than 2.7 mM), serum immunoreactive parathyroid hormone (range: 1,405-1,817 pg/mL; normal 50-140 pg/mL), and markedly decreased urinary calcium excretion (0.04 mumol/dL glomerular filtrate; normal greater than 25) suggested the diagnosis of primary neonatal hyperparathyroidism. This was supported by evidence of hypocalciuric hypercalcemia--the autosomal dominant carrier state--in both the parents. Our case illustrates the profound neurodevelopmental deficits arising from sustained hypercalcemia in infancy and childhood. Although this disorder is not lethal, it should be considered a neonatal emergency, since surgical parathyroidectomy can result in cure.
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28/65. Problems of differential diagnosis in a case of bone lesions caused by myelosclerosis associated with hyperparathyroidism.

    The authors present a report on the case of a female patient with myelofibrosis where X-ray examinations of the bone skeleton predominantly showed such osteolytic changes which are no typical of myelosclerosis. Morphological criteria rather would have corresponded to osteitis fibrosa cystica generalisata. Laboratory examinations partially indicated primary hyperparathyroidism, this assumption could not be confirmed by other examinations. Also histological findings of repeated bone biopsies did not lead to a uniform diagnosis. autopsy confirmed the presence of both diseases. The authors consider the synergistic effect of both diseases to be the cause for the development of those bone changes mentioned above.
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29/65. paraplegia caused by brown tumor in primary hyperparathyroidism. Case report.

    A brown tumor is a secondary disorder of bone associated with hyperparathyroidism that arises predominantly in the metacarpals, phalanges, jaw, pelvis, or femur. Rarely does this tumor involve the spine. The authors describe a case of brown tumor in primary hyperparathyroidism, causing spinal cord compression. The first step in diagnosing this lesion in an unusual site is a high index of suspicion. Essentially, this tumor is benign but emergency surgery for tumor removal is recommended in patients showing acute spinal cord compression.
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keywords = dominant
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30/65. Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphatemic osteomalacia. Report of two cases.

    Orally administered phosphate supplements are the mainstay of therapy for hypophosphatemic osteomalacia of diverse causes and are generally believed to be free from harmful side effects. Two cases are reported, however, in which long-term therapy (14 and 10 years, respectively) resulted in hypercalcemic hyperparathyroidism associated with surgically proved adenomatous hyperplasia. This complication occurred despite concomitant treatment with pharmacologic doses of vitamin D. Thus, long-term oral phosphate therapy can produce tertiary hyperparathyroidism in susceptible patients.
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ranking = 606690.69630633
keywords = hypophosphatemic
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