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Measuring the Parathyroid hormone (PTH) levels assists in the investigation and management of patients with parathyroid disorders. Rapid PTH monitoring is a valid tool for accurate assessment intraoperatively. Rapid Electro-Analytical Device (READ) is a point-of-care device that uses impedance change between target and capture probe to assess the PTH concentration in undiluted patient plasma samples. The aim of this work focuses on evaluating the analytical performance of READ platform to Roche analyzer as a prospective clinical validation method. The coefficient of variation (CV) for intra-assay imprecision was

Purpose: Adenoma is the main parathyroid disorder leading to primary hyperparathyroidism (PHP). Minimally invasive parathyroidectomy (MIP) is recognized as a valid procedure for adenoma-related PHP. It requires precise preoperative localization combining Tc-99m-MIBI (methoxy-isobutyl-isonitrile) scintigraphy and single-photon emission computed tomography (SPECT) with x-ray computed tomography (CT) and intraoperative confirmation of successful excision by change in intact parathormone (iPTH) levels. The study aim was to assess the surgery success in relation to these two parameters. Methods: All patients operated on for PHP from 2005 to mid-2014 at our institution were retrospectively reviewed. MIP was performed in case of precise preoperative adenoma localization on scintigraphy, absence of past cervical surgery, and absence of concomitant thyroid resection necessity. In these patients, iPTH levels were monitored intraoperatively. Confirmation criteria for iPTH values were a return to normal level or a decrease >50% of basal iPTH level. Results: There were 197 PHP operations during the study period: 118 MIP and 79 bilateral neck explorations (BNEs). The MIP success rate was 95% (112/118) with a preoperative MIBI scan ± CT accurate in 94% (111/118) of the patients and with correct iPTH in 90% (106/118) of the cases. Among the 12 iPTH levels that did not meet the confirmation criteria, 10 returned to normal range by postoperative day 2. Treatment failure appeared in three patients (one BNE, two MIPs). Conclusions: Tc-99m-MIBI dual-phase scintigraphy with SPECT/CT is the key examination for functional and morphological parathyroid adenoma localization. If preoperative scintigraphy is obvious and intraoperative assessment is clear, one could possibly safely omit iPTH, as it may lead to unnecessary BNE in primary PHP.

Critically ill patients may have preexisting endocrine disorders that need to be recognized and addressed. Disruption of normal endocrine gland function leads to inappropriate hormone secretion, resulting in hormone excess or deficiency. Both extremes may have detrimental systemic consequences and may pose significant challenges to the intensivist. Proper recognition of endocrine emergencies such as severe hyponatremia secondary to the syndrome of inappropriate antidiuretic hormone secretion, thyroid storm, and myxedema coma is vital, as delay in treatment may result in significant morbidity or death. This review provides an overview of common pituitary, thyroid, and parathyroid disorders and emergencies, including definitions, manifestations, diagnosis, and management. This review contains 2 figures, 7 tables, and 30 references. Key Words: acromegaly, diabetes insipidus, hyperparathyroidism, hypoparathyroidism, myxedema coma, nonthyroidal illness syndrome, syndrome of inappropriate antidiuretic hormone secretion, thyrotoxicosis, thyroid storm

Introduction: The incidence of parathyroid – glandula parathyreoideae (PTG) diseases has been increasing worldwide. Unlike benign tumours, the incidence of malignant PTG tumours is rather a rare diagnosis. The morbidity of parathyroid surgery is associated with surgical removal of one or more pathologically altered parathyroid glands, particularly parathyroid adenoma associated with primary hyperparathyroidism (HPPT), but also hyperplasia associated with secondary or tertiary HPPT, and last but not least, HPPT due to parathyroid cancer. Methods: A retrospective statistical analysis was performed in the set of patients undergoing surgery for a parathyroid disorder at the Department of Otorhinolaryngology and Maxillofacial Surgery, 3rd Faculty of Medicine, Charles University and Military University Hospital in Prague in 2013–2019 (7-year period). In this period, 127 procedures were performed. The incidences of morbidity, mortality, complications and lethality were analysed. Results: Parathyroid surgery was performed in 20 male and 107 female patients. The mean age was 54.7 years, and the morbidity expressing recurrent laryngeal nerve (RLN) palsy was 0.7% of the nerves exposed during the procedure. The incidence of permanent normal postoperative calcaemia was 98.43%, demonstrated by a decrease in serum parathyroid hormone (PTH) levels. In 12 cases, this state was achieved only after a surgical revision (primary procedure for primary HPPT in 2 cases; 10 patients came for surgical revision with secondary or tertiary HPPT from other centres). Decreased PTH levels were demonstrated intraoperatively in 12.6% patients using the so-called PTH assay (a rapid serum PTH assay). Surgery for secondary or tertiary hyperparathyroidism was done in 33 patients (26% procedures). PTG surgery lethality (mortality) was divided into perioperative mortality within 24 hours from the procedure and early mortality within 120 hours. Lethality related to PTG surgery was 0.0% including patients undergoing the surgery while being in a dialysis programme and those with kidney transplant. Conclusions: Surgery is always associated with complications, with morbidity and mortality. Experience of endocrinology surgeons of all specialties is reflected in a very low incidence of RLN injuries and in sufficient oncological, or respectively, surgical radicality. This, in connection with other medical fields of endocrinology, nephrology, transplantology, nuclear medicine and oncology, allows a safe and effective treatment of all PTG disorders with a good prognosis for the patients. In those with secondary or tertiary HPPT, it not only improves their quality of life, which was not explored in our study, but in many cases it is an essential step for listing the patient for the transplant surgery. The current level of experience in the field of parathyroid carcinoma does not enable us to formulate any conclusions in terms of prognosis which should be considered as very serious in all cases.

In this review we discuss the significance of the main ultrasonographic features of common thyroid and parathyroid conditions, with a focus on the advantages of real time observation. The thyroid specialist, defined as an endocrinologist with a major interest in thyroid disorders and access to a portable ultrasound machine, can correlate what they see with the thyroid blood test results and clinical findings in a way that is not available to the general endocrinologist who relies on the interpretation by the consultant radiologist of ultrasound images prepared by a technician. We also discuss the significance of the small, very bright, intra nodular microcalcifications found in benign colloid nodules, which we call “colloid spots” and the difference between these and the 3–4 mm soft microcalcifications that are 90% specific for papillary thyroid cancer and provide a new system for staging the inflammatory changes in Hashimoto thyroiditis, as observed on ultrasonography.

OBJECTIVE There are no data regarding echocardiographic parameters in patients with normocalcemic primary hyperparathyroidism (NCPHPT). We compared the echocardiographic findings in postmenopausal women with NCPHPT with those in patients with hypercalcemic primary hyperparathyroidism (PHPT) and controls. METHODS Seventeen consecutive Caucasian postmenopausal women with NCPHPT were compared with 20 women with hypercalcemic PHPT and 20 controls. Obesity, diabetes, kidney failure, and previous cardiovascular diseases were considered exclusion criteria. Each patient underwent biochemical evaluation, bone mineral density scan, and echocardiographic measurements. Patients with parathyroid disorders underwent kidney ultrasound evaluation. RESULTS Patients with PHPT had significantly higher mean total serum calcium, ionized calcium, 24-hour urinary calcium, and parathyroid hormone and lower mean phosphorus levels compared with those in the controls (all P < .05). The only differences between patients with NCPHPT and PHPT were significantly lower mean total serum calcium, ionized calcium, and 24-hour urinary calcium and higher phosphorus levels in patients with NCPHPT (all P < .05). The only biochemical difference between patients with NCPHPT and the controls was a higher level of mean parathyroid hormone in patients with NCPHPT. There were no differences in cardiovascular risk factors between patients with NCPHPT and PHPT and the controls. Hypertension was the most frequent cardiovascular risk factor, diagnosed in 65% of patients with PHPT. This high prevalence was not statistically significant compared with that observed in patients with NCPHPT (59%) and in the controls (30%). Echocardiography parameters were not different between patients with NCPHPT and PHPT and the controls when subdivided according to the presence of hypertension (ANOVA followed by Bonferroni correction). CONCLUSION In a population with a low cardiovascular risk, we found no differences in cardiovascular risk factors and echocardiographic parameters between patients with NCPHPT and PHPT and the controls.

Background: Due to the potentially crucial role of vitamin K2 in calcium metabolism, a deficit can disrupt many mechanisms, resulting in an array of different issues, such as broken bones, stiff arteries and poor fertility. Although there has been existing research, the potential of vitamin K2 as a treatment for conditions including cerebral palsy, parathyroid disease, heart disease and gastrointestinal disease is unknown. This review discusses the biochemistry of vitamin K and the metabolism of calcium, followed by an analysis of the current literature available on vitamin K2 and its prospects. Methods: Using public libraries including PubMed and Wiley, we searched for existing research on the metabolism and use of vitamin K2 that has been conducted in the preceding two decades. Results: Data indicated that vitamin K2 had a positive impact on osteoporosis, cardiovascular disease, parathyroid disorders, cerebral palsy and sperm motility. Conclusion: Due to the existence of confounding variables and limitations in the quality and volume of research conducted, further investigation must be done to see whether the beneficial effects seen are reproducible and must assess the viability of vitamin K2 as treatment in isolation for these conditions.

Parathyroid disorders are characterized by alterations in calcium and phosphate homeostasis due to inappropriately high or low levels of parathyroid hormone (PTH). Despite PTH receptor type 1 has been described in almost all immune lineages and calcium signalling has been confirmed as a crucial mediator for immune response, in vitro studies on the physiological interactions between PTH and immunity are conflicting and not representative of the clinical scenarios seen in patients with parathyroid disorders. Infectious diseases are among the main causes of increased morbidity and mortality in patients with secondary hyperparathyroidism and chronic kidney disease. More, immune alterations have been described in primary hyperparathyroidism. Recent studies have unveiled an increased risk of infections also in hypoparathyroidism, suggesting that not only calcium, but also physiological levels of PTH may be necessary for a proper immune response. Finally, calcium/phosphate imbalance could affect negatively the prognosis of infectious diseases. Our review aimed to collect available data on infectious disease prevalence in patients with parathyroid disorders and new evidence on the role of PTH and calcium in determining the increased risk of infections observed in these patients.

The advent of new insights into phosphate metabolism must urge the endocrinologist to rethink the pathophysiology of widespread disorders, such as primary hyperparathyroidism, and also of rarer endocrine metabolic bone diseases, such as hypoparathyroidism and tumor-induced hypophosphatemia. These rare diseases of mineral metabolism have been and will be a precious source of new information about phosphate and other minerals in the coming years. The parathyroid glands, the kidneys, and the intestine are the main organs affecting phosphate levels in the blood and urine. Parathyroid disorders, renal tubule defects, or phosphatonin-producing tumors might be unveiled from alterations of such a simple and inexpensive mineral as serum phosphate. This review will present all these disorders from a ‘phosphate perspective’.

This chapter provides a summary of the histology and pathology of parathyroid glands and provides a succinct review of the developmental aspects, normal anatomy, and histology of parathyroids followed by a discussion of the histopathology of the main disease entities affecting these glands. This edition contains new information about recently described molecular alterations in some of these conditions and aims to provide a practical approach for clinicians to understand the pathologic basis of parathyroid diseases and assist them in better appreciating the recent advances in the molecular pathology of parathyroid disorders. Multiple illustrative examples accompany the discussions.

Purpose Bartter syndrome type 2 (BS2) is an autosomal recessive renal tubular disorder, which is caused by the mutations in KCNJ1. This study was designed to analyze and describe the genotype and clinical features of five Chinese probands with BS2. Methods Identify KCNJ1 gene variants by the next generation sequencing and evaluate their mutation effects according to 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines. Results Ten variants including eight novel ones of KCNJ1 gene were found, the most common type was missense variant. The common symptoms and signs from high to low incidence were: polydipsia and polyuria (5/5), one of them (1/5) presented with diabetes insipidus; maternal polyhydramnios and premature delivery (4/5); growth retardation (3/5). Two patients presented with hypochloremic metabolic alkalosis and hypokalemia; whereas the acid-base disturbance was absent in the others. One patient had evident parathyroid hormone (PTH) resistance (hypocalcemia, hyperphosphatemia and markedly elevated PTH levels), three presented with PTH overacting (hypercalcemia, hypophosphatemia and mild elevated PTH levels), and one showed normal blood calcium and phosphorus concentrations with high-normal PTH levels. All patients had nephrocalcinosis and/or hypercalciuria, and one of them complicated with nephrolithiasis. Indomethacin has significant therapeutic effect on the growth retardation, polydipsia and polyuria and treatment was associated with a decrease in urine calcium excretion, normalization of electrolyte disturbance and PTH parameters. Conclusions Ten variants of KCNJ1 gene were identified in five Chinese probands. These patients had atypical BS phenotype lacking evident metabolic alkalosis and/or manifesting with PTH overaction/resistance, which reminds clinicians to carefully differentiate BS2 with other parathyroid disorders. This is the first report of BS2 from Chinese populations.

PTH is a metabolic active hormone primarily regulating calcium and phosphate homeostasis in a very tight and short term-manner. Parathyroid disorders in adult patients reflect a variety of different conditions related either to the parathyroid glands itself or to the effects of the secreted hormone. The clinical spectrum varies from the common disease primary hyperparathyroidism (PHPT) to the orphan conditions pseudohypoparathyroidism (Ps-HypoPT) and chronic hypoparathyroidism (HypoPT). The purpose of this review is to describe the consequences of disturbances in levels or action of PTH for cardiac function and cardiovascular risk in adult patients with these disorders. Most patients with PHPT achieve the diagnose by chance and have minor or no specific symptoms. Still, these patients with mild PHPT do possess cardiovascular (CV) morbidity, however so far not proven ameliorated by surgery in controlled trials. In severe cases, the CV risk is increased and with a potential reversibility by treatment. Patients with Ps-HypoPT have resistance to PTH action, but not necessarily total resistance in all tissues. So far, no clear CV morbidity or risk has been demonstrated, but there are several aspects of interest for further studies. Most patients with HypoPT do get their hormonal deficiency syndrome following neck surgery. These patients do experience multiple symptoms and do have an increased CV-risk before the primary surgery. Based on existing data, their CV mortality do not deviate from the expected when adjusting for the preexisting increased risk. Patients with nonsurgical (NS-) HypoPT do demonstrate increased CV-risk also associated with exposure time. Endocrine disorders with alterations in PTH function have major impact on the cardiovascular system of importance for morbidity and mortality, wherefore management of these specific diseases should be optimized currently, as new data become available, however also avoiding over-treating asymptomatic patients.

The Bone Section of the Hellenic Endocrine Society has issued the recommendations herein presented with the aim of providing guidance on optimal management of patients with parathyroid disorders in everyday clinical practice within the Greek health care setting. Although the methodology followed to formulate these recommendations was not strictly based on the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) principles, they were drawn up after an extensive review of the literature and of the currently available guidelines for the management of parathyroid disorders worldwide. Specifically for primary hyperparathyroidism (PHPT), the 2011 guidelines of the Greek National Organization of Medicines were updated accordingly. In particular, definitions, etiologies, and recommended and optional laboratory and imaging examinations are provided both for PHPT and chronic hypoparathyroidism (HypoPT). Finally, treatment algorithms are provided for the management of both PHPT and HypoPT. Specifically for HypoPT, the treatment algorithm describes the recommended steps that should be followed to achieve optimal management of chronic hypocalcemia and the complications of HypoPT through the conventional treatment available in Greece and the use of recombinant human PTH(1-84).

The control of body calcium involves a balance—chiefly under the control of parathyroid hormone (PTH)—between the amounts that are absorbed from the gut, deposited into bone and into cells, and excreted from the kidney. Abnormalities of the parathyroid glands themselves will cause derangements of calcium homeostasis and several clinical disorders. PTH oversecretion due to parathyroid tumours, which affect 3 in 1000 of the population, is a major cause of hypercalcaemia which may be associated with kidney stones, osteoporosis, and peptic ulcers. PTH deficiency, which results in hypocalcaemia and occurs in 1 in 4000 live births, may be associated with epilepsy, tetany, cataracts, skeletal malformations, and abnormal dentition. This chapter will review the physiological and biochemical mechanisms underlying extracellular calcium homeostasis, the clinical features of hypercalcaemia and hypocalcaemia, the clinical disorders associated with abnormal calcium homeostasis and their management, and the genetic basis for disorders of calcium metabolism.

Background We investigated the management of thyroid incidentalomas associated with cases of parathyroid lesions in order to suggest a practical approach to their management from a surgical point of view. Methods 639 patients underwent radiological and ultrasound investigation of the thyroid area because of parathyroid disorders and parathyroidectomy and had at least three years of follow-up. All follow-up data for these cases were investigated from the moment the lesion was detected and up to the last report. Results Out of 639 cases, incidental or asymptomatic thyroid nodules were found in 179 patients (28%), of which, 22 patients were operated (parathyroidectomy + thyroidectomy) and 157 remained with the nodules. For these patients, the average period of follow-up was 7 years 5 mo. Following the results of the follow-up, 52 patients (33%) were suggested to have surgery of the thyroid gland and 49 were operated (16 total thyroidectomies and 33 hemithyroidectomies). The complications after the second surgery included recurrent laryngeal nerve palsy (n = 3), superior laryngeal nerve palsy (n = 1), permanent hypocalcaemia (n = 8), and surgical damage to the internal jugular vein (n = 1). All complications occurred at the previously operated side of the neck. Conclusion While surgery remains the management of choice for malignant thyroid incidentalomas, for benign cases, if an asymptomatic thyroid nodule was detected inside the thyroid lobe on the side of planned parathyroidectomy and if the size of the nodule is ˃1.5 cm we suggest combined parathyroidectomy + hemithyroidectomy.

Surgery for primary hyperparathyroidism is undertaken by many specialties but predominantly endocrine and ear, nose and throat (ENT) surgeons. There is currently no consensus on the peri-operative management of primary hyperparathyroidism. We sought to determine current surgical practice and identify any inter-specialty variation in the United Kingdom (UK). An online survey was disseminated to members of the British Association of Endocrine & Thyroid Surgeons (BAETS) in the UK. 78 surgeons responded (40 Endocrine, 37 ENT and 1 maxillofacial). 90% of surgeons used ultrasound and sestamibi for pre-operative localisation. Intraoperative frozen section (31%) and parathyroid hormone monitoring (41%) were the most common adjuncts used intraoperatively. 68% of surgeons did not use any wound drains. Nearly two-thirds of surgeons (64%) discharged patients from the clinic within 3 months, There were some significant differences (p

This study aimed to determine the rates and characteristics of parathyroid disorder and thyroid cancer in patients with multiple endocrine neoplasia type 1 vs sporadic primary hyperparathyroidism (SPHP) undergoing parathyroidectomy. Patients with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism (MPHP) or SPHP who underwent initial or reoperative parathyroid exploration from 1999 to 2019 were identified via a clinical database. The data for MPHP patients (n = 15) were compared to those of a selected 2:1 age- and sex-matched SPHP cohort (n = 30) who all underwent thyroidectomy for concurrent thyroid nodules. Compared with that of the SPHP group, the parathyroid hormone level of the MPHP group was much higher (470.67 ± 490.74 pg/mL vs 217.77 ± 165.60 pg/mL, P = .001). Multiglandular parathyroid disease (6/15 [40%] vs 3/30 [10%], P = .026) and more hyperplasia (7/15 [46.7%] vs 5/30 [16.7%], P = .039) were found in the MPHP group, and more parathyroid lesions presented as a round shape (long/short meridian

OBJECTIVE To determine the clinical and biochemical pattern of parathyroid disorders in a tertiary care setting.. METHODS The cross-sectional study was conducted at the Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from September 2017 to February 2018, and comprised patients with suspected parathyroid disorders. A panel of biochemical tests were used for diagnosis of parathyroid disorders, which included parathyroid hormone levels, total calcium, ionized calcium, inorganic phosphorus, alkaline phosphatase, magnesium, total vitamin D and urinary calcium-to-creatinine ratio. SPSS 24 was used for data analysis. RESULTS Of the 384 subjects, 248(65%) were male and 136(35%) were female. Overall mean age was 48±19years. Of the total, 302(786%) had parathyroid issues, with 244(81%) having secondary hyperparathyroidism. Mean serum total calcium, phosphorus, ionized calcium, magnesium and total vitamin D were 8.98±1.52 mg/dl, 4.0±1.30 mg/dl, 4.65±0.52 mg/dl, 2.11±0.27 mg/dl and 20.5±8.52 ngml respectively. Of the patients diagnosed with secondary hyperparathyroidism, 72.2% patients had chronic kidney disease and 20.2% had isolated vitamin D deficiency. CONCLUSIONS Parathyroid disorders had significant impact on bone health. Moreover, secondary hyperparathyroidism was seen to be emerging as a major endocrine problem, especially in chronic kidney disease patients and vitamin D-deficient individuals.

Parathyroid carcinoma is a rare malignancy, representing 0.005% of all cancers and 0.5%-1% of all parathyroid disorders. Parathyroid carcinoma occurs equally in males and females, as opposed to primary hyperparathyroidism, which has a female predominance. Patients with parathyroid carcinoma present with symptoms of hypercalcemia, similar to those with benign primary hyperparathyroidism. Parathyroid carcinoma should be suspected when calcium or parathyroid hormone levels are high. Because of the difficulty of discerning parathyroid carcinoma from adenoma preoperatively, the diagnosis of carcinoma is often made only after parathyroidectomy. The goals of surgery are resection with negative margins because surgery represents the only opportunity for cure. Adjuvant therapy with chemotherapy or external beam radiation has not been proven to affect disease-free or overall survival for these patients. Recurrence is common, with reoperation recommended for resectable recurrent disease. Palliation with calcimimetic pharmacotherapy can aid with management of symptomatic hypercalcemia in recurrent or persistent disease after parathyroidectomy. Ultimately, patients succumb to sequelae of hypercalcemia rather than tumor burden.

The endocrine system is very essential to maintain body homeostasis. Disturbance of endocrine function leads to well-established diseases; such as diabetes mellitus, thyroid and parathyroid disorders, infertility, and obesity. There is no absolute cure for these diseases; however, current treatment aims to monitor them and prevent their further progression. Scientists are working hardly to find better treatment strategies for endocrine disorders. Nanotechnology holds a great promise in finding solutions to these diseases, and this field is advancing very rapidly because of the targeted type of drug delivery, and hence, it reduced the side effects of the current medications. This chapter highlights the current state of researches concerning the use of nanotechnology in managing three examples of endocrine diseases: thyroid dysfunction, diabetes mellitus, and obesity. For example, nanotechnology has been implemented in finding non-invasive routes of insulin delivery such as oral, nasal, or transdermal routes. Glucose nanosensors have been invented in order to improve the accuracy of detection of serum glucose. It is important to emphasize that this field of research is still in the preclinical stage and more work is needed to provide evidence of its safety. Immune response and toxicity are the main issues that concern researchers when using nanotechnology.

Parathyroid disorders include hyperparathyroidism, hypoparathyroidism, and parathyroid resistance. Hyperparathyroidism is primarily caused by neoplasia of the parathyroid gland or abnormal calcium sensing system. Hypocalcemia can cause secondary hyperparathyroidism and eventually tertiary hyperparathyroidism. Hypoparathyroidism is caused by deficient parathyroid development, altered calcium sensing system, or the destruction of parathyroid gland. Abnormality in PTH signaling leads to parathyroid resistance.

The thyroid and adjacent parathyroid glands demonstrate a variety of benign and malignant pathology, with nodular thyroid disease being the most common pathology encountered in most routine head and neck imaging practice. A variety of thyroid cancers exist, and imaging strategy for staging, surveillance and follow-up depend upon the cancer type. The importance of parathyroid gland imaging in both benign disease, primary hyperparathyroidism (HPT), and the less common parathyroid carcinoma has seen recent advances. An understanding of the available imaging modalities, pathologies and options for imaging thyroid and parathyroid disorders is essential.

Introduction. Fahr's syndrome is an infrequent disorder characterized by bilateral symmetrical calcification of basal ganglia and the cerebral cortex. It can be seen genetic, idiopathic, or secondary to endocrine diseases. This disease is related to different metabolic disorders particularly with diseases of the parathyroid gland. Case 1. A 63-year-old female patient applied to our clinic due to having hypoparathyroidism with bilateral basal ganglia calcification in head computed tomography(CT). She had subtotal thyroidectomy 25 years ago. in the neurological examination, mild symmetrical parkinsonism was determined. in laboratory examination Ca:8 mg/dL (8.6- 10.2), P:5.1 mg/dL (2.3-4.5), PTH:9.53 pg/mL (15-65) were detected. Calcitriol 0.25 mu/day was added to her treatment. Her parkinsonism disappeared after the treatment. Case 2. A 49-year-old male patient was consulted when he was admitted to the department of neurology in our hospital. the physical examination demonstrated the characteristics of Albright's hereditary osteodystrophy. the neurological examination shows bilateral symmetrical bradykinesia, dysphagia, and moderate dysarthria. in the laboratory examination PTH: 46.5 ng/L(15-65), Ca:8.6 mg/dL (8.6-10.2), P:2.7 mg/dL (2.3-4.5) were detected and were all within the normal ranges. Consequently, pseudopseudohypoparathyroidism was decided as a diagnosis. G protein alpha subunit mutation (Gs alpha) was not detected due to technical limitations. Conclusion. When a patient is diagnosed as Fahr's syndrome, we should keep in mind parathyroid disorders. Fahr's syndrome must be evaluated in patients showing intracranial calcification accompanied by parathyroid diseases.

Introduction: Parathyroid cyst is a rare parathyroid disorder and represented

Objective Patients with hypoparathyroidism exhibit metabolic disorders (hypocalcemia) and brain structural abnormalities (brain calcifications). Currently, studies have determined whether antiepileptic drug (AED) treatment is required for epileptic seizures in children with hypoparathyroidism. Method This study aims to evaluate the data of two medical centers in Beijing based on the diagnosis of epileptic seizures as the first symptom of hypoparathyroidism in children. Result A total of 42 patients were included and assigned into AED and non-AED treatment groups in a 1:2 matched case–control study. Results show that the seizure outcome after 1 year of AED treatment is not significantly different from that of the control. In the subgroup analysis of patients with subcortical calcifications, the seizure outcome is still not significantly different from that of the control. Conclusion Thus, AED treatment cannot improve the seizure outcomes in children with parathyroid disorder, even in such cases as suspected structural seizure caused by subcortical calcifications. Clinicians must take adequate considerations on the use of AEDs in these patients. Epileptic seizures, as the first symptom of hypoparathyroidism in children, do not require epilepsy drugs.

Background While the inverse relationship between serum ionized calcium (Ca2+) and PTH is well-established, the relationship between 25(OH)D and PTH showed conflicting results. The study aimed to evaluate the relative contributions of age, sex, serum Ca2+, ionized magnesium (Mg2+), 25(OH)D and 1,25(OH)2D in regulating PTH secretion in healthy subjects. Methods This is a secondary analysis of an observational study performed from March 2014 to July 2015 carried out in 2259 blood donors (1652 men and 607 women, age range 18–68 years). Subjects with parathyroid disorders and taking drugs that affect mineral metabolism were excluded. Results Significant correlations [between Ca2+ and PTH (r = −0.223, p Discussion Under stable conditions 25(OH)D plays a significant role in regulating PTH secretion. Under conditions of relative vitamin D sufficiency, Ca2+ also plays an important role.

Parathyroid hormone and active vitamin D control calcium homeostasis; dysregulation of this system leads to abnormal calcium measurements and a spectrum of clinical disorders. Primary hyperparathyroidism can present clinically with abdominal pain from peptic ulceration or renal calculi, mood disorders, fractures and loss of height from osteoporosis or on blood tests with reduced kidney function and hypercalcemia in the setting of normal or elevated parathyroid hormone. It is managed primarily with surgery although asymptomatic patients may elect to have serial monitoring for deterioration or clinical sequelae of hyperparathyroidism. International consensus guidelines are regularly updated to reflect research on the benefits of surgery or medical management of asymptomatic patients with primary hyperparathyroidism. Parathyroid carcinoma is a rare cause of primary hyperparathyroidism that is associated with a genetic mutation causing hyperparathyroidism-jaw tumour syndrome. Secondary hyperparathyroidism is usually a complication of chronic kidney disease or vitamin D deficiency. Hypoparathyroidism is a complication of thyroid or parathyroid surgery, a manifestation of one of a number of genetic disorders or may be one of a number of autoimmune diseases in an individual patient. Patients with hypoparathyroidism suffer from lower quality of life; undertreatment manifests as symptomatic hypocalcemia and overtreatment can result in renal calculi or reduced kidney function. Pseudohypoparathyroidism is a condition of resistance to circulating PTH, which is high; this can co-exist with skeletal abnormalities described collectively as Albright’s hereditary osteodystrophy. A case history, a patient perspective and clinical notes on two particular aspects of care of patients with parathyroid disorders are included with this chapter.

PARAT, a new European Society of Endocrinology program, aims to identify unmet scientific and educational needs of parathyroid disorders, such as primary hyperparathyroidism (PHPT), including parathyroid cancer (PC), and hypoparathyroidism (HypoPT). The discussions and consensus statements from the first PARAT workshop (September 2018) are reviewed. PHPT has a high prevalence in Western communities, PHPT has a high prevalence in Western communities, yet evidence is sparse concerning the natural history and whether morbidity and long-term outcomes are related to hypercalcemia or plasma PTH concentrations, or both. Cardiovascular mortality and prevalence of low energy fractures are increased, whereas Quality of Life is decreased, although their reversibility by treatment of PHPT has not been convincingly demonstrated. PC is a rare cause of PHPT, with an increasing incidence, and international collaborative studies are required to advance knowledge of the genetic mechanisms, biomarkers for disease activity, and optimal treatments. For example, ~20% of PCs demonstrate high mutational burden, and identifying targetable DNA variations, gene amplifications and gene fusions may facilitate personalized care, such as different forms of immunotherapy or targeted therapy. HypoPT, a designated orphan disease, is associated with a high risk of symptoms and complications. Most cases are secondary to neck surgery. However, there is a need to better understand the relation between disease biomarkers and intellectual function, and to establish the role of PTH in target tissues, as these may facilitate the appropriate use of PTH substitution therapy. Management of parathyroid disorders is challenging, and PARAT has highlighted the need for international transdisciplinary scientific and educational studies in advancing in this field. peerReviewed

The parathyroid glands are essential for regulating calcium homeostasis in the body. The genetic programs that control parathyroid fate specification, morphogenesis, differentiation, and survival are only beginning to be delineated, but are all centered around a key transcription factor, GCM2. Mutations in the Gcm2 gene as well as in several other genes involved in parathyroid organogenesis have been found to cause parathyroid disorders in humans. Therefore, understanding the normal development of the parathyroid will provide insight into the origins of parathyroid disorders.

Individuals with a familial predisposition to the development of parathyroid tumors constitute a small minority of all patients with primary hyperparathyroidism (PHPT). These familial syndromes exhibit Mendelian inheritance patterns and the main causative genes in most families have been identified. They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia (FHH), and neonatal severe PHPT. Each MEN type is associated with the various combinations of specific tumors. MEN1 is characterized by the occurrence of parathyroid, enteropancreatic, and pituitary tumors; MEN2A is characterized by medullary thyroid carcinoma and pheochromocytoma, and MEN4 is characterized by a pathological spectrum similar to that of MEN1 in association with tumors of the adrenal, kidney, and reproductive organs. HPT-JT is characterized by PHPT, ossifying fibromas of maxillary bones, kidney disease, and uterine neoplasias. The prompt diagnosis of these diseases is of great importance for planning appropriate surveillance of the mutant carriers and correct surgical management. The search for mutation is also useful for the identification of the family members who do not carry the mutation and can avoid unnecessary biochemical and instrumental evaluations. Surgery remains the treatment of choice in all familial forms except FHH.

Parathyroid glands are the main regulator of body mineral metabolism through parathormone (PTH) actions on bone and kidney. Experimental evidence suggests that PTH may have non-classical target organs such as adipose tissue, arterial vascular wall, cardiac muscle cells, and adrenal cortex cells, where it may play a role in controlling body energy, blood pressure, and metabolism. Cardiometabolic features have been investigated in the wide spectrum of clinical parathyroid disorders, from hyperparathyroidism to pseudohypoparathyroidism and hypoparathyroidism. Indeed, in parathyroid disorders, besides altered PTH secretion, impaired serum calcium levels and vitamin D status occur. Both calcium and vitamin D have been shown to regulate metabolism and to be associated with cardiovascular diseases. However, despite the complexity of parathyroid disorders, features of metabolic syndrome, such as obesity, insulin resistance, and glucose intolerance, arterial blood hypertension, and dyslipidemia, are frequently diagnosed in primary and secondary hyperparathyroidism as well as in pseudohyperparathyroidism. Here, we reviewed the most consistent data highlighting challenges and providing clinical remarks.

Hormonal disorders are a source of cerebellar ataxia in both children and adults. Normal development of the cerebellum is critically dependent on thyroid hormone, which crosses both the blood–brain barrier and the blood–cerebrospinal fluid barrier thanks to specific transporters, including monocarboxylate transporter 8 and the organic anion-transporting polypeptide 1C1. In particular, growth and dendritic arborization of Purkinje neurons, synaptogenesis, and myelination are dependent on thyroid hormone. Disturbances of thyroid hormone may also impact on cerebellar ataxias of other origin, decompensating or aggravating the pre-existing ataxia manifesting with motor ataxia, oculomotor ataxia, and/or Schmahmann syndrome. Parathyroid disorders are associated with a genuine cerebellar syndrome, but symptoms may be subtle. The main conditions combining diabetes and cerebellar ataxia are Friedreich ataxia, ataxia associated with anti-GAD antibodies, autoimmune polyglandular syndromes, aceruloplasminemia, and cerebellar ataxia associated with hypogonadism (especially Holmes ataxia/Boucher–Neuhauser syndrome). The general workup of cerebellar disorders should include the evaluation of hormonal status, including thyroid-stimulating hormone and free thyroxine levels, and hormonal replacement should be considered depending on the laboratory results. Cerebellar deficits may be reversible in some cases.

Parathyroid disease has a huge impact on overall health and quality of life. Immunohistochemistry (IHC) is a biological technique, which is useful in diagnosis and prognosis of the parathyroid disorders. The use of IHC as a diagnostic tool brings a substantial methodological problem related to evaluation of stain intensity in micrographs. This paper introduces an image processing approach for automatic IHC stain analysis in micrographs of parathyroid tissue. The introduced approach can be used for computer-aided diagnosis of parathyroid disease as well as for medical research studies in this field. The main novelty of this approach lays in the combination of color deconvolution procedure with a parathyroid cell nuclei localization algorithm, which is based on custom image filtering and circular objects recognition. Accuracy of the proposed approach was verified by comparison with results of experts’ evaluation in experiments conducted on micrographs of healthy tissue, adenomas, and hyperplasias with various IHC markers.

Hypothyroidism may occur in association with congenital parathyroid disorders determining parathyroid hormone insufficiency, which is characterized by hypocalcemia and concomitant inappropriately low secretion of parathormone (PTH). The association is often due to loss of function of genes common to thyroid and parathyroid glands embryonic development. Hypothyroidism associated with hypoparathyroidism is generally mild and not associated with goiter; moreover, it is usually part of a multisystemic involvement not restricted to endocrine function as occurs in patients with 22q11 microdeletion/DiGeorge syndrome, the most frequent disorders. Hypothyroidism and hypoparathyroidism may also follow endocrine glands' damages due to autoimmunity or chronic iron overload in thalassemic disorders, both genetically determined conditions. Finally, besides PTH deficiency, hypocalcemia can be due to PTH resistance in pseudohypoparathyroidism; when hormone resistance is generalized, patients can suffer from hypothyroidism due to TSH resistance. In evaluating patients with hypothyroidism and hypocalcemia, physical examination and clinical history are essential to drive the diagnostic process, while routine genetic screening is not recommended.

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 a cumulative follow up duration of 613,925 person-years. PHPT was diagnosed in 37 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). Out of the 37 patients with PHPT, 16 (43%) developed post-surgical hypoparathyroidism. Conclusion 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. This article is protected by copyright. All rights reserved.

Since parathyroid hormone (PTH) was first isolated and its gene (PTH) was sequenced, only eight PTH mutations have been discovered. The C18R mutation in PTH, discovered in 1990, was the first to be reported. This autosomal dominant mutation induces endoplasmic reticulum stress and subsequent apoptosis in parathyroid cells. The next mutation, which was reported in 1992, is associated with exon skipping. The substitution of G with C in the first nucleotide of the second intron results in the exclusion of the second exon; since this exon includes the initiation codon, translation initiation is prevented. An S23P mutation and an S23X mutation at the same residue were reported in 1999 and 2012, respectively. Both mutations resulted in hypoparathyroidism. In 2008, a somatic R83X mutation was detected in a parathyroid adenoma tissue sample collected from a patient with hyperparathyroidism. In 2013, a heterozygous p.Met1_Asp6del mutation was incidentally discovered in a case-control study. Two years later, the R56C mutation was reported; this is the only reported hypoparathyroidism-causing mutation in the mature bioactive part of PTH. In 2017, another heterozygous mutation, M14K, was detected. The discovery of these eight mutations in the PTH gene has provided insights into its function and broadened our understanding of the molecular mechanisms underlying mutation progression. Further attempts to detect other such mutations will help elucidate the functions of PTH in a more sophisticated manner.

(99m)Tc-Methoxy-isobutyl-isonitrile (MIBI) scintigraphy is a standard preoperative localization imaging modality in patients with primary hyperparathyroidism (pHPT). Its accuracy in localizing a hyperactive parathyroid gland after previous cervical surgery is limited. Recently, (11)C-methionine has been introduced as a promising radiotracer for pHPT imaging. Yet, few data exist for this technique in patients with persisting or recurrent pHPT before reoperation.We aimed to investigate the ability of (11)C-methionine positron emission tomography (PET)/computed tomography (CT) to localize a parathyroid disorder after cervical surgery and negative postsurgical (99m)Tc-MIBI single-photon emission CT (SPECT)/CT.Fifteen patients (6 males, 9 females; age range, 36-85 years) with pHPT and negative (99m)Tc-MIBI SPECT/CT who had undergone earlier neck surgery because of pHPT and/or thyroid disorder were recruited. Twelve of the 15 patients had thyroidectomy for goiter or differentiated thyroid carcinoma. Ten patients had previous parathyroid surgery for pHPT, and 2 patients had a history of parathyroid carcinoma. Thirteen of 15 patients showed elevated levels of intact PTH at the time of PET/CT imaging, whereas all patients had elevated serum calcium values.Pathological results of contrast-enhanced (11)C-methionine PET/CT and surgical results were evaluated.In 6 of 15 patients (11)C-methionine PET/CT showed a hypermetabolic focus in the upper mediastinum in 2 patients, in the thoracic outlet in 1 patient, and in the cervical region in 3 patients. In 9 of the 15 patients, no hyperactive parathyroid gland could be visualized. Reoperation was performed in 5 of 6 patients without surgical complications. One patient refused surgery. In 2 of the 5 patients, a transsternal procedure was performed. Correlating with the (11)C-methionine PET/CT results, a single parathyroid adenoma was found in 4 patients and parathyroid carcinoma metastasis in 1 patient.(11)C-Methionine PET/CT is a useful complementary imaging technique to localize parathyroid adenoma or carcinoma in (99m)Tc-MIBI SPECT/CT-negative patients.

Objetivo: Relatar o processo diagnóstico da Lesão Central de Células Gigantes e as opções de terapias farmacológicas disponíveis como alternativa para o tratamento cirúrgico enquanto conduta de primeira escolha. Estudo de Caso: Paciente do sexo feminino, 24 anos, apresentava aumento de volume assintomático em região de corpo mandibular direito. A conduta inicial foi a realização da biópsia incisional e após a análise histológica foi necessário solicitar exames laboratoriais para distúrbios paratireoides a f im de descartar a possibilidade do Tumor Marrom. Os resultados se apresentaram dentro dos padrões de normalidade e uma vez elucidado o diagnóstico de Lesão Central de Células Gigantes foi iniciado o tratamento com injeções intralesionais de triancinolona. Com 09 meses do início do tratamento, a paciente encontra-se com remissão significativa da lesão e ao exame tomográfico observa-se neoformação óssea satisfatória. Considerações Finais: A Lesão Central de Células Gigantes demanda de um extenso processo diagnóstico e dispõe de tratamentos cirúrgicos e/ou farmacológicos, cabe ao profissional responsável pelo caso ponderar a melhor abordagem para cada paciente.

Parathyroid hormone plays an important role in the metabolism of calcium and phosphorus, so, influence the mineralization of bone and teeth. Parathyroid disorder may lead to hyper or hyposecretion of hormone, which results in various oral manifestations. Common oral manifestations in patients with hyperparathyroidism (HPT) are brown tumor, loss of bone density, soft tissue calcification, and dental abnormalities. In hypoparathyroidism, the dental abnormalities are a delay or cessation of dental growth and development, paresthesia of the tongue or lips and alteration of the facial muscles. Dentist can easily diagnose the parathyroid disorders owing to their particular oral manifestations and radiographic finding. Dental management of patients with HPT involves a higher risk of bone fracture, whereas in hypoparathyroidism the caries control is the main concern. It is the important that the dentist be aware of the risks and difficulties that may arise during the dental management of these patients.

Primary hyperparathyroidism, a disorder in which there is a tendency for hypercalcaemia caused by autonomous overproduction of parathyroid hormone, is common, especially in postmenopausal women. Although parathyroidectomy is indicated for symptomatic patients, most individuals with the disorder are asymptomatic and without classic complications, such as renal stones and osteoporosis, at diagnosis. Consensus guidelines suggest which individuals might be suitable for medical follow-up rather than parathyroidectomy, but there are no long-term randomised controlled trials to support the safety of medical surveillance, and some patients progress with time. Data from observational studies suggest that cardiovascular morbidity and mortality are increased in patients with primary hyperparathyroidism, and might be predicted by parathyroid hormone concentrations, even in individuals with asymptomatic primary hyperparathyroidism. Whether parathyroidectomy improves cardiovascular outcomes in patients with asymptomatic primary hyperparathyroidism is unproven, but data suggest that surgery decreases fracture risk and might improve neuropsychological symptoms. Studies also show that patients with normocalcaemic (subclinical) hyperparathyroidism and hypoparathyroidism have a low risk of progression to overt disease, but their long-term risks are not defined. In this Review, we explore the increasing range of asymptomatic parathyroid disorders, focusing on current evidence about their natural history and potential complications, with a particular emphasis on primary hyperparathyroidism.

Normocalcemic primary hyperparathyroidism is typically identified after referral to a specialty clinic. At diagnosis, patients demonstrate features seen in hypercalcemic primary hyperparathyroidism. Normocalcemic hypoparathyroidism has been discovered after hypocalcemia unmasked after bisphosphonate administration.We hypothesized that screening unselected, nonreferral populations, such as The Osteoporotic Fractures in Men (MrOS) study and Dallas Heart Study (DHS), would identify asymptomatic subjects with normocalcemic hyperparathyroidism and hypoparathyroidism.Normocalcemic hyperparathyroidism was defined as serum PTH greater than the upper reference range with normal albumin-adjusted serum calcium, excluding common secondary causes (renal failure [estimated glomerular filtration rate60 mL/min], 25-hydroxyvitamin D20 ng/mL, and thiazide use), and normocalcemic hypoparathyroidism as PTH below the reference range with normocalcemia. Cross-sectional data were obtained from MrOS, and longitudinal data (baseline and 8 years) from DHS.In 2364 men from MrOS, we identified 9 with normocalcemic hyperparathyroidism (prevalence 0.4%) and 26 with normocalcemic hypoparathyroidism (1.1%). In 3450 men and women from DHS, we identified 108 with normocalcemic hyperparathyroidism (3.1%) and 68 with normocalcemic hypoparathyroidism (1.9%). Of the 108 normocalcemic hyperparathyroid subjects, 64 had follow-up data. Hypercalcemic primary hyperparathyroidism developed in 1 subject whereas 13 (0.6% of the follow-up cohort) showed persistently elevated PTH levels with normocalcemia. Of the 26 normocalcemic hypoparathyroid subjects with follow-up data, none developed overt hypoparathyroidism and 2 (0.09%) had persistent evidence of normocalcemic hypoparathyroidism.This study documents normocalcemic primary hyperparathyroidism and hypoparathyroidism identified among community-dwelling individuals. Larger studies are needed to determine the true prevalence and natural history of these parathyroid disorders.