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)

The study of four cases of osteosis caused by primary hyperparathyroidism, tree female and one male, which have undergone surgery for pathological fractures in met-epiphysis bone, allows to analyze with the help of scanning electron microscope modifications occurring in periosteal and endosteal bone matrix. The periosteal surface appears abundantly furrowed by large and deep canals, irregularly joined together. Areas of resorption, these at rest and these of osteodeposition are distributed in changeable but regular way. The bone turnover of endosteal side is particularly accentuated. This surface contains the bone trabeculae residuals and is widely marked by deep Howship's lacunae, which show intense osteoclastic activity. It seem that osteocytes cells participate actively in the process of osteolysis, widening the lacunae and small canals which appear to be surrounded by calcospherites arranged in irregular way. Osteogenetic activity, with large areas of deposition, is very intense, as a defence attempt against osteolytic resorption process.
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PMID:[Osteosis due to primary hyperparathyroidism. The SEM ultrastructural features of the periosteal and endosteal surfaces]. 210 Dec 17

We reported previously that radial bone mineral content was decreased in patients with primary hyperparathyroidism and remained subnormal 1 year after surgery. In this study, we reviewed the results of sequential measurements of the radial bone mineral content, performed up to 107 months after removal of the parathyroid adenoma in 71 patients suffering from primary hyperparathyroidism. Bone mineral content increased during the first year after surgery. During the period 1 to 8 months after removal of the adenoma, the mean monthly increment was 0.009 +/- 0.0022 g/cm for the radial epiphysis and 0.0084 +/- 0.0023 g/cm for the shaft. However, in 39 patients seen at the end of 1 year after surgery, the bone mineral content of the epiphysis remained more than 1 SD below the normal mean in 61% (24) of the patients and more than 2 SDs in 36% (14) of the patients. For the shaft, those percentages were 59% (23) and 26% (10), respectively. Thereafter, the monthly increment rate of bone mineral content decreased rapidly with time, so that only minor further increase could be expected. Data show that patients with a low bone mineral content when diagnosed with primary hyperparathyroidism will conserve life long an irreversible loss of bone as compared with a matched control population.
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PMID:Long-term irreversibility of bone loss after surgery for primary hyperparathyroidism. 236 46

To assess the effect of age and disease on mineral distribution at the distal third of the tibia, bone mineral content (BMC) and bone mineral density (BMD) were measured at lumbar spine (spine), femoral neck (neck), and diaphysis (Dia) and distal epiphysis (Epi) of the tibia in 89 healthy control women of different age groups (20-29, n = 12; 30-39, n = 11; 40-44, n = 12; 45-49, n = 12; 50-54, n = 12; 55-59, n = 10; 60-69, n = 11; 70-79, n = 9), in 25 women with untreated vertebral osteoporosis (VOP), and in 19 women with primary hyperparathyroidism (PHPT) using dual-energy x-ray absorptiometry (DXA; Hologic QDR 1000 and standard spine software). A soft tissue simulator was used to compensate for heterogeneity of soft tissue thickness around the leg. Tibia was scanned over a length of 130 mm from the ankle joint, fibula being excluded from analysis. For BMC and BMD, 10 sections 13 mm each were analyzed separately and then pooled to define the epiphysis (Epi 13-52 mm) and diaphysis area (Dia 91-130 mm). Precision after repositioning was 1.9 and 2.1% for Epi and Dia, respectively. In the control group, at any site there was no significant difference between age groups 20-29 and 30-39, which thus were pooled to define the peak bone mass (PBM).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Bone mineral density at distal tibia using dual-energy X-ray absorptiometry in normal women and in patients with vertebral osteoporosis or primary hyperparathyroidism. 787 49

Slippage of the upper femoral epiphysis can occur in association with multiple endocrine imbalances. A case of slipped femoral epiphysis with primary hyperparathyroidism is reported. The patient was an adolescent, 16 Years of age, who presented bilateral slipped epiphysis. Investigation showed that he had hypercalcemia (3.1 mmol/l) related to primary hyperparathyroidism. A parathyroid adenoma was removed. Outcome was favorable and the slipped femoral epiphyses did not require a specific treatment.
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PMID:[Slipped capital femoral epiphysis associated with hyperparathyroidism. A case report]. 1503 31

Primary hyperparathyroidism (PHP) is an uncommon disease in children and adolescents. The association between PHP and slipped capital femoral epiphysis is rare, and so far only four cases have been reported in the literature. Herein, we report a case of PHP due to a parathyroid adenoma, with several painful skeletal deformities and associated with slipped capital femoral epiphysis in an 18-year-old male patient. Laboratory evaluation showed: calcium of 13.6 mg/dL, parathyroid hormone of 1,524 pg/mL and alkaline phosphatase of 3,449 U/L. Deformities were caused by late diagnosis during the growth spurt, and this association is the result of combinations between metabolic and mechanical factors. The patient underwent parathyroidectomy and, in agreement with the literature, since the removal of the adenoma is followed by prompt resolution of the slipped capital femoral epiphysis we decided for a conservative approach. We observed improvement of the pain and normalization of calcium and parathyroid hormone levels.
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PMID:[Primary hyperparathyroidism associated to slipped capital femoral epiphysis in a teenager]. 1618 63

A 14-year-old boy was admitted to the orthopedic clinic of Rajavithi Hospital complaining of pain in the left hip. A year earlier, pain had developed in his left joint and had gradually increased in intensity in both hips. A month before he was referred, radiographs obtained at another hospital showed bilateral slipped capital femoral epiphysis (SCFE). The patient's biochemical laboratory data showed hypercalcemia, hypophosphatemia, and a high level of intact parathyroid hormone (iPTH) compatible with primary hyperparathyroidism. HRPT2 gene analysis found heterozygosity for c. 700 C > T mutation (Arg234X) of HRPT2 gene at exon 7. This is the first report in the literature about somatic mutation of the HRPT2 gene of parathyroid carcinoma associated with slipped capital femoral epiphysis.
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PMID:Somatic HRPT2 Mutation (Arg234X) of Parathyroid Carcinoma Associated with Slipped Capital Femoral Epiphysis: A First Case Report. 2726 37

Parathyroid carcinoma is a rare cause of primary hyperparathyroidism amongst children, with only nine previously reported cases. The objective of the study was to present the first pediatric case with a germline CDC73 (formerly known as HRPT2) mutation, and to review the literature. A 14-year-old girl presented with pathologic slipped capital femoral epiphysis (SCFE). The patient was noted to have an elevated calcium level of 3.4 mmol/L (13.4 mg/dL), a parathyroid hormone (PTH) level of 1013 ng/L (1013 pg/mL), and a 3-cm palpable neck mass. Ultrasound and 99mTc-Sestamibi confirmed the suspicion of a parathyroid mass. Intraoperative findings and pathology confirmed the diagnosis of parathyroid carcinoma. Post-operative PTH decreased to 14 ng/L (14 pg/mL). Genetic testing showed a germline 70 G>T HRPT2/CDC73 mutation. This is the first case documenting a germline 70 G>T HRPT2/CDC73 gene mutation in a pediatric parathyroid carcinoma. Patients with sporadic parathyroid carcinoma may benefit from HRPT2/CDC73 gene mutation screening.
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PMID:A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature. 2754 21

The aim of reporting this case is to highlight the association of two disorders, primary hyperparathyroidism (PHPT) and slipped capital femoral epiphysis (SCFE). They are usually seen in two different age groups and rarely together. PHPT is a rare cause of SCFE and only 10 cases have been reported in the literature worldwide. The patient in our report is a 13-year-old girl who presented to our clinic with bilateral knee pain and a waddling gait. Subsequent investigations showed that she had PHPT and SCFE with low bone mass. On admission, a parathyroidectomy was performed; then, the slipped femoral epiphyses were fixed with satisfactory results. A systematic algorithmic approach that was illustrated in a previously published case was used. Such cases should be managed with a systematic approach based on the patient's clinical status to prevent future morbidity. A literature review was conducted by performing a Medline search of all reported cases of PHPT and SCFEs.
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PMID:Slipped Capital Femoral Epiphysis and Primary Hyperparathyroidism: A Case Report. 2792 May 93

Primary hyperparathyroidism is not common in children and adolescents. Association of slipped capital femoral epiphysis and hyperparathyroidism is rare. We report the case of a 15-year-old boy who presented with pain in both hips and limping. He was diagnosed to have bilateral slipped capital femoral epiphysis (SCFE) and underwent cancellous screw fixation of both hips. He had proximal myopathy and pain at multiple points over the chest. Examination revealed an emaciated patient with genu valgum, rachitic rosary, Harrison's sulcus, and bony tenderness over the ribs. Investigations showed PTH-dependent hypercalcemia with serum calcium levels reaching >17 mg/dL and electrocardiography showing QTc shortening. Imaging revealed parathyroid adenoma. The work up for multiple endocrine neoplasia syndromes (MEN) was negative. Serum calcium was controlled by medical management and patient underwent expedited surgery. Postoperatively serum calcium levels normalized and patient became better biochemically and clinically including resolution of skeletal changes on follow-up. Only 12 cases of SCFE associated with primary hyperparathyroidism have been reported worldwide till date including the current case. The literature has been reviewed and it indicates that SCFE is associated with late adolescent age and severe hyperparathyroidism (severe bone disease, higher parathormone, serum calcium, and alkaline phosphatase levels).
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PMID:Slipped Capital Femoral Epiphysis in Primary Hyperparathyroidism - Case Report with Literature Review. 3174 12