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Purpose of Review: Pseudohypoparathyroidism (PHP) is a disorder caused by mutations and/or epigenetic changes at the complex GNAS locus. It is characterized by hypocalcemia, hyperphosphatemia, and an elevated parathyroid hormone concentration secondary to the resistance of target tissues to the biological actions of parathyroid hormone. PHP is divided into several subtypes with different yet overlapping phenotypes. Research on the bone status in patients with PHP is sparse and has yielded inconsistent results. This review was performed to summarize the current knowledge on the bone phenotypes and possible mechanisms of PHP. Recent Findings: Patients with PHP exhibit highly variable bone phenotypes and increased concentrations of bone turnover markers. Long-standing elevation of the parathyroid hormone concentration may lead to hyperparathyroid bone diseases, including rickets and osteitis fibrosa. Compared with normal controls, patients with PHP may exhibit similar, increased, or decreased bone mineral density. Higher bone mineral density has been found in patients with PHP type 1A than in normal controls, whereas decreased bone mass, osteosclerosis, and osteitis fibrosa cystica have been reported in patients with PHP type 1B, indicating more variable bone phenotypes in PHP type 1B. Summary: Bone tissues show partial sensitivity to parathyroid hormone in patients with PHP, leading to heterogeneous reactions to parathyroid hormone in different individuals and even in different regions of bone tissues in the same individual. Regions rich in cancellous bone are more sensitive and show more obvious improvement after therapy. Active vitamin D and calcium can significantly improve abnormal bone metabolism in patients with PHP. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate whether patients presenting with laboratory results consistent with primary hyperparathyroidism (pHPT) are managed in accordance with guidelines.Methods: The laboratory database at a hospital in Sweden, serving 127,000 inhabitants, was searched for patients with biochemically determined pHPT. During 2014, a total of 365 patients with biochemical laboratory tests consistent with pHPT were identified. Patients with possible differential diagnoses or other reasons for not being investigated according to international guidelines were excluded after scrutinizing records, after new blood tests, and clinical assessments by endocrine surgeons.Results: Altogether, 92 patients had been referred to specialists and 82 had not. The latter group had lower serum calcium (median 2.54 mmol/L) and PTH (5.7 pmol/L). Out of these 82 cases, 9 patients were diagnosed with pHPT or had some sort of long-term follow-up planned as outpatients.Conclusion: Primary hyperparathyroidism is overlooked and underdiagnosed in a number of patients in the clinical setting. It is important to provide local guidelines for the management of patients presenting with mild pHPT to ensure that these patients receive proper evaluation and follow-up according to current research. [ABSTRACT FROM AUTHOR]

Introduction. Brown tumors of hyperparathyroidism are locally destructive bone lesions. They are the late clinical consequence of the disease. They can occur in primary, secondary, and rarely tertiary forms. They affect usually long bones and less frequently those of the maxilla. Case Report. Our 45-year-old female patient presented with a mandibular tumor next to the first right lower molar. At first, we have chosen tooth extraction and tumor excision. When the histological report showed the giant cell tumor we suspected a metabolic bone disorder. Biochemical tests screened hyperparathyroidism and severe vitamin D deficiency, and parathyroid scintiscan revealed parathyroid adenoma. Discussion. The association of hyperparathyroidism and vitamin D deficiency leads to diagnostic uncertainty. First, secondary hyperparathyroidism can be due vitamin D deficiency. Second, data available show that vitamin D deficiency is more prevalent in patients with primary hyperparathyroidism than in general population. Hyperparathyroidism management is based on correct and precise diagnosis. Furthermore, the resolution of brown tumors depends on the cure of hyperparathyroidism. In fact, bone lesions should regress after biological tests’ normalization. Conclusion. Clinicians should be aware of such rare and complicated presentation. They must consider the diagnosis of the brown tumor to avoid extensive surgical excision and teeth extractions. [ABSTRACT FROM AUTHOR]

Objectives: We sought to identify oral symptoms found in hyperparathyroidism and compare their rate of occurrence, as well as potential variations in sequelae between primary, secondary, and tertiary hyperparathyroidism. Materials and methods: Database searches were performed through EMBASE and PubMed, with a continual handsearch for relevant articles. PRISMA guidelines were followed. Results: Two hundred five articles including 245 patients were analyzed with data extraction. The average age was 34.02 years old (age range 1-83), with 91 male and 154 female patients (1:1.7 M/F ratio). Patients presented with symptoms including facial asymmetry or swelling (167/214 cases; 78.0%), oral pain (30/214; 14.0%), systemic symptoms (25/214; 11.7%), referrals or incidental findings (16/214; 7.5%), and neuropathy (6/214; 2.8%) independently and in combination together. Bony pathology occurred most often in the mandible (100/245 cases; 40.8%), while 72 cases were in the maxilla (29.4%) and 73 cases in both jaw bones (29.8%). Conclusions: Our data collection identifies a wide variation in the presentation of hyperparathyroidism. In order to be more certain of oral maladies from hyperparathyroidism, studies with large patient populations need to be conducted at healthcare centers to clarify the oral outcomes of hyperparathyroidism. Clinical relevance: What was thought to be a characteristic finding of HPT, mandibular radiolucency occurred in only a minor portion of cases. Furthermore, the pathognomonic sign of HPT on radiograph, loss of lamina dura, was only the third most common presentation. Bone pathology was most commonly reported in literature, but should not be assumed the only oral sequelae of hyperparathyroidism. [ABSTRACT FROM AUTHOR]

Context and objective Detailed information on the epidemiology of parathyroid disorders in India is lacking. Most of the available data pertain to primary hyperparathyroidism ( PHPT) rather than the overall burden of parathyroid disorders. We studied the incidence of parathyroid disorders in a cohort of service personnel followed for a long duration. Design, setting and patients: The data for this retrospective, descriptive epidemiological study were derived from the electronic medical records ( EMR) of health care personnel enrolled between 1990 and 2015. Subjects were recruited between the ages of 17 and 20 years in good health, and the data pertaining to parathyroid disorders were derived from the EMR. Main outcomes measures We calculated the incidence rates per person-years of parathyroid disorders using appropriate statistical methods. Results Our analysis includes 51 217 participants (median age 33, range 17-54 years) with a mean follow-up of 12.5 years. Yearly evaluation of the data gave cumulative follow-up duration of 613 925 person-years. PHPT was diagnosed in 37 patients and hypoparathyroidism in 16 patients, giving incidence rates of 6 and 2.6 per 100 000 person-years, respectively. Only one patient was diagnosed with pseudohypoparathyroidism (0.16 per 100 000 person-years). Of the 37 patients with PHPT, 16 (43%) developed postsurgical hypoparathyroidism. Conclusions Our cohort had a low incidence of PHPT when compared to Western populations. Long-term epidemiological studies are essential to identify the demographic trends of metabolic bone disorders in India. [ABSTRACT FROM AUTHOR]

Background: Long-term severe hyperparathyroidism leads to thinning of cortical bone and cystic bone defects referred to as osteitis fibrosa cystica. Cysts filled with hemosiderin deposits may appear colored as "brown tumors." Osteitis fibrosa cystica and brown tumors are occasionally visualized as multiple, potentially corticalis-disrupting bone lesions mimicking metastases by bone scintigraphy or 18F-fluorodeoxyglucose positron emission tomography.Case Presentation: We report a case of a 72-year-old white woman who presented with malaise, weight loss, and hypercalcemia. She had a history of breast cancer 7 years before. The practitioner, suspecting bone metastases, initiated bone scintigraphy, which showed multiple bone lesions, and referred her to our hospital for further investigations. Laboratory investigations confirmed hypercalcemia but revealed a constellation of primary hyperparathyroidism and not hypercalcemia of malignancy; in the latter condition, a suppressed rather than an increased value of parathyroid hormone would have been expected. A parathyroid adenoma was found and surgically removed. The patient's postoperative course showed a hungry bone syndrome, and brown tumors were suspected. With the background of a previous breast cancer and lytic, partly corticalis-disrupting bone lesions, there was a great concern not to miss a concomitant malignant disease. Biopsies were not diagnostic for either malignancy or brown tumor. Six months after the patient's neck surgery, imaging showed healing of the bone lesions, and bone metastases could be excluded.Conclusions: This case shows essential differential diagnosis in a patient with hypercalcemia and multiple bone lesions. Whenever multiple, fluorodeoxyglucose-avid bone lesions are found, malignancy and metabolic bone disease should both be included in the differential diagnosis. Fluorodeoxyglucose-avid and corticalis-disrupting lytic lesions also occur in benign bone disease. There may be very few similar cases with heterogeneous and widespread bone lesions reported in the literature, but we think our patient's case is particularly remarkable for its detailed imaging and the well-documented course. [ABSTRACT FROM AUTHOR]

We report a Japanese pedigree with familial primary hyperparathyroidism due to a CDC73 mutation. To our knowledge, this is the first report of cinacalcet as a treatment for CDC73- related primary hyperparathyroidism. The proband had severe psychomotor retardation and received laryngotracheal separation surgery. At 19 yr of age, he developed acute pancreatitis. Hypercalcemia (12.2-13.8 mg/dL), elevated levels of intact PTH (86-160 pg/mL), and a tumor detected upon neck ultrasonography led to the diagnosis of primary hyperparathyroidism. Family history and biochemical examinations revealed that three family members (the proband's mother, elder brother, and maternal grandfather) had primary hyperparathyroidism. We identified a novel heterozygous mutation, c.240delT, p.Glu81Lysfs*28, in the CDC73 gene in three affected family members, excluding the proband's elder brother who refused genetic testing. Parathyroidectomy for the proband was considered as high-risk, because the tumor was located close to the tracheostomy orifice. After receiving approval from the institutional review board and obtaining the consent, we initiated cinacalcet treatment. At 22 yr of age, treatment with 100 mg of cinacalcet m aintained serum calcium levels below 11.0 mg/dL with no apparent side effects. Our report presents the potential efficacy of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism, in particularly inoperative cases. [ABSTRACT FROM AUTHOR]

Fibrous dysplasia is also called fibrocystic disease, osteitis fibrosa localisata, focal osteitis fibrosa, fibro osteodystrophy, and Jaffe-Lichtenstein. It is an asymptomatic regional alteration of bone in which the normal architecture of bone is replaced by fibrous tissue and nonfunctional trabeculae-like osseous structures. Fibrous dysplasia may be monostotic or polyostotic, with or without associated endocrine disturbances. Here, we are discussing two cases with monostotic fibrous dysplasia of maxilla with emphasis on various radiographic features that the lesion shows during its different stages. [ABSTRACT FROM AUTHOR]

Objective. The brown tumour of hyperparathyroidism is a result of a metabolic disorder caused by primary hyperparathyroidism. Report. We described a case of a 37-year-old female patient presenting bimaxillary intraoral lesions and swelling in the neck. Incisional biopsy of the oral lesion was performed and histopathological examination revealed a central giant cell lesion composed by intense haemorrhagic exudate, abundant presence of giant cells, and areas with hemosiderin pigment. The patient also presented high levels of serum calcium and parathyroid hormone, hyperfunctioning parathyroid tissue, bilateral parenchymal nephropathy, and densitometry lower than expected, showing an advanced stage of osteitis fibrosa cystica. Synchronous parathyroid adenoma and papillary thyroid carcinoma were confirmed by imaging exams and histopathologically. Conclusion. The composition of all the clinical, pathological, and imaging findings led to the final diagnosis of brown tumour of hyperparathyroidism. The occurrence of parathyroid adenoma, papillary thyroid carcinoma, and brown tumours of hyperparathyroidism in their late stage (osteitis fibrosa cystica) associated with oral brown tumours involving the mandible and maxilla is extremely rare. [ABSTRACT FROM AUTHOR]

Background: Osteitis pubis or symphysitis pubis is a rare occurring non-infectious inflammation of the symphysis, the adjacent pubic bones and surrounding tissue. The therapy might be conservative or surgical by a resection of the symphysis and involved parts of the pubic bone. Nevertheless, this resection might lead to an anterior instability impairing the posterior arch and the sacroiliac joints in the aftermath.Case Presentation: Here, we report about a 50-year-old women suffering from osteitis pubis treated by wedge resection of the symphysis and parts of the pubic bone. To maintain stability and for local antibiotic treatment a cement spacer was implemented. By clinical inconspicuous findings and the patient's desire, no further surgery was performed. However, 2 years after surgery the spacer dislocated and the patient complained about pain in the posterior arch due to an impaired mobility. Reconstruction surgery was planned including the bridging of the accrued space with a vascularized double-barrelled fibula graft, plate osteosynthesis and rectus abdominis flap coverage. The performed surgery led to pain relief and increased mobility.Conclusion: The present case highlights the possible complication of surgical treated osteitis pubis leading to anterior arch instability affecting the posterior arch and thus impairing pelvic ring stability and patient mobility. Furthermore, we describe an opportunity to treat this complication or other etiologies contributing to anterior pelvic ring stability with large bone defects using a vascularized double-barrelled fibula graft to restore pelvic stability. [ABSTRACT FROM AUTHOR]

In this report we explain a case of primary hyperparathyroidism in a 45 years old diabetic woman that was initially presented with recurrent nephrolithiasis of more than 10 years duration leading to right complete and left partial nephrectomy and complicated by end-stage renal failure. After diagnosis of primary hyperparathyroidism and parathyroid adenectomy, she developed severe hypocalcaemia due to severe and advanced osteitis fibrosa cystica. Despite starting hemodialysis and treatment by high dose calcium the general condition did not improve and the hypocalcemia was not corrected. Severe hungry bone syndrome did not get better and the patient died finally.

Bone marrow fibrosis occurs in association with a number of pathological states. Despite the extensive fibrosis that sometimes characterizes renal osteodystrophy, little is known about the factors that contribute to marrow accumulation of fibrous tissue. Because circulating cytokines are elevated in uremia, possibly in response to elevated parathyroid hormone levels, we have examined bone biopsies from 21 patients with end-stage renal disease and secondary hyperparathyroidism. Bone sections were stained with antibodies to human interleukin-1alpha (IL-1alpha), IL-6, IL-11, tumor necrosis factor-alpha (TNF-alpha) and transforming growth factor-ß (TGF-ß) using an undecalcified plastic embedding method. Intense staining for IL-1alpha, IL-6, TNF-alpha and TGF-ß was evident within the fibrotic tissue of the bone marrow while minimal IL-11 was detected. The extent of cytokine deposition corresponded to the severity of fibrosis, suggesting their possible involvement in the local regulation of the fibrotic response. Because immunoreactive TGF-ß and IL-6 were also detected in osteoblasts and osteocytes, we conclude that selective cytokine accumulation may have a role in modulating bone and marrow cell function in parathyroid-mediated uremic bone disease.

Osteitis fibrosa cystica ( OFC) is the most frequent type of osseous change in renal osteodystrophy affecting the majority of dialysis patients. Brown tumors are a severe form of OFC. The involvement of the craniofacial skeleton causing facial disfigurement in patients on dialysis appears to be limited to case reports. After searching PubMed, we performed a systematic review of 127 cases with a severe form of OFC resulting in a facial disfigurement to understand possible determinants for this condition. We found that since the first published case in 1974, and after a peak in 1996, there appears to be an increase in published reported cases. Only 27.6% of these cases were published in nephrology journals. The most common region for reported cases was North America. Mean age of these patients was 31.2 years with a mean dialysis duration of 7 years. Almost 67% were women, and almost all were on hemodialysis. The disease tended to most commonly localize to the maxilla (73.2%) and mandible (57.5%). As part of the treatment, 59% of patients had a parathyroidectomy. More than one-third (35.4%) had symptomatic improvement at follow-up. Mean follow-up was 1.6 years. Clinicians should be aware of this clinical presentation of a severe form of OFC and/or brown tumors. Timely diagnosis and intervention may help to prevent or decrease destructive bone changes and reduce negative psychological consequences of facial disfigurement. [ABSTRACT FROM AUTHOR]