Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult.
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Isolated magnesium malabsorption is a rare disorder, which bas been described in no more than 30 patients worldwide. Patients with this disorder typically present with convulsion and diarrhea in early infancy. Hypomagnesemia and hypocalcemia were found in a 35-year-old man with muscle cramps, who bad been diagnosed as primary hypoparathyroidism. Oral magnesium therapy corrected the low serum calcium, magnesium and parathyroid hormone levels. We report an atypical case of isolated magnesium malabsorption in an adult. (+info)
New technique of parathyroidectomy to prevent parathyromatosis and hypoparathyroidism.
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A 54-year-old woman with end-stage renal disease and on haemodialysis for 4 years developed severe secondary hyperparathyroidism and was operated upon. The two upper and the largest lower parathyroid glands were resected. The right lower gland was dissected from the lower pole of the thyroid and, by gently pulling upwards, the lateral walls were dissected using electrocautery. The lower aspect of the gland maintained the blood supply through small mediastinal and thymic vessels of the neopedicle, which allowed its mobilization to a more superficial plane. Because of the large size of the gland, the part opposite to the neopedicle was resected and the cutting surface was sealed with fibrin adhesive. Pre-thyroidal muscles were reapproximated and the remnant of the parathyroid gland was pulled out through a small hole in the inferior part of the midline and sutured with fine silk to the muscle. The gland was therefore placed in a subcutaneous position in the lowest part of the operative field just above the sternal border. The postoperative course was uneventful and, 8 months after surgery, the patient maintains a normal parathyroid function. (+info)
Radioimmunoassay for human calcitonin employing synthetic calcitonin M: its clinical application.
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A sensitive and reliable radioimmunoassay for human calcitonin was described and applied to preliminary clinical studies. 125I-labelled synthetic human calcitonin M was purified by gel filtration with Sephadex G-25 and G-100. A nonequilibrium incubation system was applied at the final volume of incubation mixture of 500 mul, in which pooled plasma from normal subjects or hormone free serum was used as carrier protein at 20% incubation mixture. Dextran T 40 coated charcoal, resuspended in 1% bovine serum albumin buffer, was used for the separation of free from bound tracer. This showed the least nonspecific adsorption of tracer to charcoal. The assay was sensitive to 0.1 ng per milliliter of plasma. Recovery of synthetic human calcitonin added to plasma was found to be 101% (S. D., +/- 8). Diluted plasma from a patient with medullary thyroid carcinoma showed a dilution curve parallel to standards. Basal calcitonin levels were less than 0.3 ng/ml in normal subjects. Relatively high values were found in patients with chronic renal failure and in patients with malignant tumors. Extremely elevated values were found in patients with medullary thyroid carcinoma. Provocative calcium infusion tests were also performed. (+info)
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
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Partial monosomy 10p is a rare chromosomal condition and a significant proportion of patients show features of DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). A critical haploinsufficiency region for DGS/VCFS was defined on 10p (DGCR2). We performed molecular deletion analysis of two further patients with partial monosomy 10p, who showed hypoparathyroidism, deafness, and renal dysplasia or renal insufficiency, but no cardiac defect, cleft palate, or reduced T cell levels. Previously, the combination of hypoparathyroidism, deafness, and renal dysplasia has been proposed to represent a specific syndrome (MIM 146255) under the acronym HDR. In addition to the two patients in this report, at least four published cases with partial monosomy 10p show the triad of HDR and 14 other patients present with at least two of the three features. We therefore conclude that HDR syndrome can be associated with partial monosomy 10p. Based on molecular deletion analysis and the clinical data, we suggest that the DGS/VCFS phenotype associated with 10p deletion can be considered as a contiguous gene syndrome owing to haploinsufficiency of two different regions. Hemizygosity of the proximal region, designated DGCR2, can cause cardiac defect and T cell deficiency. Hemizygosity of the distal region, designated HDR1, can cause hypoparathyroidism and in addition sensorineuronal deafness and renal dysplasia/insufficiency or a subset of this triad. (+info)
Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan.
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A nationwide epidemiologic survey of idiopathic hypoparathyroidism and pseudohypoparathyroidism was conducted in 1998 to clarify the prevalence of the two disorders in Japan. From a total of 14,100 departments of pediatrics, internal medicine, neurology, and endocrinology in whole Japan, 2952 (20.9%) study departments were selected at random. Of these departments receiving the first questionnaire, 1855 (62.8%) responded. From these departments 390 patients with idiopathic hypoparathyroidism and 203 with pseudohypoparathyroidism who visited the hospitals in 1997 were reported. The total numbers of patients were estimated to be 900 (690-1100) for idiopathic hypoparathyroidism and 430 (330-520) for pseudohypoparathyroidism (95% confidence intervals in parentheses). Using these data, the period prevalence of the diseases were 7.2 (5.5-8.8) per million population in idiopathic hypoparathyroidism, and 3.4 (2.6-4.2) in pseudohypoparathyroidism (95% confidence intervals in parentheses). (+info)
Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA.
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In a 54-year-old woman with diabetes mellitus, hearing loss, muscle weakness and hypocalcemia, caused by idiopathic hypoparathyroidism, an A to G transition at the nucleotide position of 3243 (A3243G mutation) was found in the mitochondrial DNA from her leukocytes. Clinical features of diabetes mellitus and hearing loss in association with the A3243G mutation are compatible with a diagnosis of maternally inherited diabetes and deafness (MIDD). Although hypoparathyroidism is rarely seen in MIDD, we consider that hypoparathyroidism in this patient is a possible phenotype caused by the A3243G mutation of mitochondrial DNA. (+info)
DiGeorge syndrome with Graves' disease: A case report.
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DiGeorge syndrome (DGS) is characterized by aplasia or hypoplasia of the thymus and parathyroid glands, cardiac defects and anomaly face. This syndrome is usually associated with hypocalcemia resulting from hypoparathyroidism. In most cases the initial symptom is tetany caused by hypocalcemia within 24-48 hours after birth, with symptoms by immune abnormality appearing later. We report a woman who passed with no symptoms before age 18 and was diagnosed DiGeorge syndrome by tetany with developing auto-immune thyroid disease (Graves' disease). She had surgery for intraventricular septal defect at age 3, hypoparathyroidism, decrease of T cells in peripheral blood and the deletion of the 22nd chromosome long arm (22q11.2). It is supposed that abnormalities of immune function of this case are not complete as indicated by complicating of Graves' disease, and contributing to her long-term survival. (+info)
Hypoparathyroidism unmasked by alendronate.
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The case of an elderly woman is reported in whom alendronate, given for osteoporosis, led to severe hypocalcaemia a few days after starting the drug treatment. This was caused by the unmasking of previously unrecognised hypoparathyroidism. (+info)