Cases reported "Hypoparathyroidism"

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1/6. Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34.

    We describe a 16-year-old girl with autoimmune polyglandular syndrome type 1 including hypoparathyroidism, who had osteoporosis that improved rapidly with parathyroid hormone replacement therapy. patients with hypoparathyroidism usually have high bone mass. Our patient developed vertebral compression fractures at age 10, shortly after hypoparathyroidism was diagnosed. She continued to have low lumbar bone mass until age 16, when a dual energy x-ray absorptiometry (DEXA) revealed a Z score of - 2.2 SD. Several factors including decreased physical activity, total body magnesium depletion, and intermittent ketoconazole and short-term prednisone treatment, may have contributed to the development and progression of osteoporosis. Therapy with synthetic human parathyroid hormone (PTH) 1-34 rapidly normalized lumbar bone mass, as assessed by DEXA.
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2/6. Hypocalcemic myopathy without tetany due to idiopathic hypoparathyroidism: case report.

    Myopathy due to idiopathic hypoparathyroidism is very unusual. We report on a 30 years-old man referred with complaints of sporadic muscle pain and mild global weakness for 10 years. His physical examination showed normal strength in distal muscle and slightly weakness in the pelvic and scapular girdles with no atrophy. Deep muscle reflexes were slightly hypoactive. Trousseau's and Chvostek's signs were absent. He had bilateral cataract and complex partial seizures. His laboratory tests showed decreased ionised and total calcium and parathyroid hormone and increased muscle enzymes. EMG and muscle biopsy was compatible with metabolic myopathy. After treatment with calcium and vitamin d supplementation he showed clinical, neurophysiological and laboratorial improvement. In conclusion: patients with muscle symptoms, even when non-specific and with normal neurological examination, should have serum calcium checked, as myopathy due to idiopathic hypoparathyroidism, even being rare, is treatable and easy to diagnose.
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3/6. A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism.

    Congenital hypoparathyroidism typically manifests with hypocalcemia with or without associated characteristic physical findings and is usually diagnosed during the neonatal period. This report describes an African-American male who was diagnosed at age 32 yr to have dysgenesis of the parathyroid glands due to chromosome 22 microdeletion. Symptomatic hypocalcemia did not develop until age 14 yr, a few weeks after initiation of anticonvulsant therapy for generalized tonic-clonic seizures. Because of the timing for onset of symptomatic hypocalcemia, it was presumed that the patient had anticonvulsant-induced hypocalcemia, and he carried that diagnosis for 18 yr. Chromosome 22q11 deletion syndrome was first suspected at age 32 yr, based on the findings of subtle dysmorphic facial features and a history of learning disability in a patient with PTH-deficient hypocalcemia. The diagnosis was confirmed by fluorescence in situ hybridization analysis.This case underscores the variable clinical presentation of this congenital form of hypoparathyroidism. Chromosome 22q11 microdeletions are relatively common, and the diagnosis should be considered even in adults with hypoparathyroidism because of the potential benefit of genetic counseling.
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4/6. The spectrum of hypoparathyroidism. Two case reports.

    Two cases of hypoparathyroidism are described which illustrate part of the spectrum of hormonoplethoric hypoparathyroidism. The first is a case of pseudohypoparathyroidism without the usual associated physical stigmata, and the second a case of hypohyperparathyroidism. The diagnostic importance of hypocalcaemia is emphasized, particularly in the presence of unexplained convulsions. Related hypoparathyroid conditions are discussed.
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5/6. Hypoparathyroidism: a possible cause of osteomalacia .

    A 17 year old man with longstanding hypocalcemia and hyperphosphatemia presented with incapacitating bone pain and progressive weakness nad bowing of the legs. The serum abnormalities were due to idiopathic hypoparathyroidism as evidenced by a decreased serum concentration of parathyroid hormone and an appropriate rise in urinary cyclic amp and phosphate excretion, and serum calcium concentration, in response to exogenously administered parathyroid extract. The serum concentration of 1,25-dihydroxycholecalciferol was appropriately decreased. The bone findings were due to osteomalacia as documented by physical findings, bone roentgenograms, and bone biopsy. Normal renal tubular function, blood pH, and serum concentration of 25-hydroxycholecalciferol and elevated serum alkaline phosphatase excluded the common causes of osteomalacia. The data are consistent with the hypothsis that lack of parathyroid hormone causes both hypocalcemia and a decreased serum concentration of 1,25-dihydroxycholecalciferol which, in turn, limit the availability of calcium and cause defective synthesis of bone matrix resulting in abnormal mineralization.
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6/6. Unrecognized hypocalcaemia diagnosed 36 years after thyroidectomy.

    Hypoparathyroidism can present many years after thyroidectomy and symptoms may be non-specific. Hypocalcaemia may cause a variety of physical and mental symptoms and the diagnosis is easily overlooked with serious and potentially fatal consequences. patients with vague symptoms should always be asked about previous thyroid surgery and serum calcium should be measured.
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