Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ectopic tumoral secretion of authentic PTH is rare, as only four cases have been convincingly documented by demonstrating the presence of PTH messenger ribonucleic acid in tumor tissue. We report the case of a 25-yr-old male with biochemical alterations typical of primary hyperparathyroidism (elevated calcemia and renal tubular reabsorption of calcium, decreased phosphatemia and maximal tubular reabsorption of phosphate, and increased intact PTH serum levels). Extensive cervical exploration did not reveal any abnormally enlarged parathyroid tissue, but excision of a palpable superior retrosternal mass led to the correction of all abnormal biochemical values. Histological analysis showed a predominantly epithelial thymoma, without any detectable parathyroid gland on serial slices. Tumor extracts contained immunoreactive PTH material, with serial dilutions paralleling PTH standards in an immunoradiometric assay. By contrast, immunoreactive PTH-related protein was absent. Furthermore, on Northern blot analysis, there was a PTH messenger ribonucleic acid transcript with a size similar to that found in parathyroid adenoma or hyperplasia. The thymoma epithelial cells stained positively with antiserum against PTH-(1-34), but negatively with antichromogranin-A antiserum. These results support the ectopic production of authentic PTH by a thymoma and indicate a novel tumoral cause of primary hyperparathyroidism.
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PMID:A thymoma as a cause of true ectopic hyperparathyroidism. 807 82

Primary hyperparathyroidism caused by solitary adenomas occurs rarely (especially in children and adolescents). The clinical manifestations are usually subtle and that is why the mentioned disorder is usually late diagnosed and as an effect--late treated. We present the case of a 17 year old girl, an ambulatory patient who had been "observed" for over 12 months because of persistent ostealgia. She had not been properly diagnosed. The first diagnostic investigation of calcium and phosphate balance was provided only when multifocal osteolysis of tibias, hip and metacarpal bones was detected and biopsy of the mentioned osteolytic lesions was done. After the admission to The Department of Pediatrics, Endocrinology and Disease of Adolescents: Ca 3.02-3.06 mmol/l, PO4- 0.32-0.62 mmol/l, ACP 19.4 U/l, ALP 864 U/l, PTH 770 pg/ml [normal values: 10-70]. Densitometry findings: BMD (Neck[L]) 0.636 g/cm2, BMD (Neck[R]) 0.722 g/cm2. The parathyroid adenoma was removed after the exploration and localization with MIBI99mTc (scintigraphy). Clinical diagnosis was verified by histologic findings. 5 months after: BMD (Neck[L]) 0.850 g/cm2, BMD (Neck[R]) 0.741 g/cm2, calcemia 2.38 mmol/l, phosphatemia 1.14 mmol/l, ACP 6.2 U/l, ALP 159 U/l. Radiograms show evident improvement of bone tissue structure.
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PMID:[Multifocal osteolysis as a result of delayed diagnosis for primary hyperparathyroidism]. 1090 59