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Endocrinology and Metabolism (Seoul,... Mar 2020Since parathyroid hormone () was first isolated and its gene () was sequenced, only eight mutations have been discovered. The C18R mutation in , discovered in 1990, was... (Review)
Review
Since parathyroid hormone () was first isolated and its gene () was sequenced, only eight mutations have been discovered. The C18R mutation in , 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 . In 2017, another heterozygous mutation, M14K, was detected. The discovery of these eight mutations in the 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.
Topics: Humans; Mutation; Parathyroid Diseases; Parathyroid Hormone
PubMed: 32207265
DOI: 10.3803/EnM.2020.35.1.64 -
Pathology, Research and Practice May 1995Hyperparathyroidism is the predominant disease of the parathyroid gland. This disease is nowadays quite common and is often diagnosed at an earlier stage, mainly by... (Review)
Review
Hyperparathyroidism is the predominant disease of the parathyroid gland. This disease is nowadays quite common and is often diagnosed at an earlier stage, mainly by means of serum calcium determinations on wide indications. This means that when detected, the glandular abnormalities may be less advanced, which could hamper differentiation of adenoma from chief cell hyperplasia, and of normal glands from slightly hyperplastic ones. Normal glands and pathological glands both show wide variations in size, cellular composition and arrangement, as described in this article. The usefulness of applying fat staining to distinguish between normal and abnormal glands is also reported. It is important to bear in mind that the parathyroid diagnosis is in fact an indirect diagnosis based on the assessment of an associated gland or glands.
Topics: Humans; Parathyroid Diseases; Parathyroid Neoplasms
PubMed: 7479352
DOI: 10.1016/S0344-0338(11)80889-7 -
The Lancet. Diabetes & Endocrinology Dec 2013Primary hyperparathyroidism, a disorder in which there is a tendency for hypercalcaemia caused by autonomous overproduction of parathyroid hormone, is common, especially... (Review)
Review
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.
Topics: Animals; Asymptomatic Diseases; Databases, Factual; Humans; Hyperparathyroidism; Parathyroid Diseases; Parathyroidectomy; Randomized Controlled Trials as Topic
PubMed: 24622418
DOI: 10.1016/S2213-8587(13)70083-4 -
Psychosomatics 1999Parathyroid diseases can present with psychiatric symptoms and can be recognized through determinations of serum electrolytes, especially the calcium level. Psychiatric... (Review)
Review
Parathyroid diseases can present with psychiatric symptoms and can be recognized through determinations of serum electrolytes, especially the calcium level. Psychiatric evaluations should include a serum calcium concentration test, which is also essential in reassessment of patients poorly responsive to mental illness treatment. A magnesium and a phosphate assay may also be diagnostically helpful. Abnormality of divalent cation levels may provide evidence for consideration of, or ruling out, parathyroid disorders. Determinations of parathyroid hormone are performed if clinically indicated, and if abnormal divalent cation quantifications are confirmed. If parathyroid disease is identified, corrective endocrine therapies may diminish or even cure psychiatric aspects of parathyroid pathology. Failure to recognize a parathyroid disorder leaves an endocrine-induced mental dysfunction without proper treatment.
Topics: Adult; Diagnosis, Differential; Electrolytes; Female; Humans; Male; Middle Aged; Neurocognitive Disorders; Parathyroid Diseases; Parathyroid Hormone
PubMed: 10581976
DOI: 10.1016/s0033-3182(99)71186-2 -
Annales D'endocrinologie Apr 2006Data in favor of chronic hypoparathyroidism as an autoimmune disease are examined. The article takes into consideration the different clinical forms, genetic patterns,...
Data in favor of chronic hypoparathyroidism as an autoimmune disease are examined. The article takes into consideration the different clinical forms, genetic patterns, histopathology, animal models, cellular immunity, circulating autoantibodies, target autoantigens, clinical manifestations, laboratory diagnosis and therapy. Furthermore, data on 71 Italian patients with chronic hypoparathyroidism are presented.
Topics: Animals; Autoimmune Diseases; Autoimmunity; Chronic Disease; Disease Models, Animal; Humans; Hypoparathyroidism; Parathyroid Diseases; Parathyroid Glands
PubMed: 16639366
DOI: 10.1016/s0003-4266(06)72571-9 -
Annales D'endocrinologie May 2015
Review
Topics: Animals; Humans; Hypocalcemia; Parathyroid Diseases; Parathyroid Glands; Receptors, Calcium-Sensing; Receptors, G-Protein-Coupled
PubMed: 25910996
DOI: 10.1016/j.ando.2015.03.013 -
Handbook of Clinical Neurology 2014Disorders of mineral metabolism may cause neurologic manifestations of the central and peripheral nervous systems. This is because plasma calcium stabilizes excitable... (Review)
Review
Disorders of mineral metabolism may cause neurologic manifestations of the central and peripheral nervous systems. This is because plasma calcium stabilizes excitable membranes in the nerve and muscle tissue, magnesium is predominantly intracellular and is required for activation of many intracellular enzymes, and extracellular magnesium affects synaptic transmission. This chapter reviews abnormalities in electrolytes and minerals which can be associated with several neuromuscular symptoms including neuromuscular irritability, mental status changes, cardiac and smooth muscle changes, etc.
Topics: Humans; Metabolic Diseases; Minerals; Nervous System Diseases; Parathyroid Diseases
PubMed: 24365349
DOI: 10.1016/B978-0-7020-4087-0.00049-8 -
Rozhledy V Chirurgii : Mesicnik... 2021The incidence of parathyroid - glandula parathyreoideae (PTG) diseases has been increasing worldwide. Unlike benign tumours, the incidence of malignant PTG tumours is...
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.
Topics: Female; Humans; Male; Middle Aged; Morbidity; Parathyroid Glands; Parathyroid Neoplasms; Parathyroidectomy; Quality of Life; Retrospective Studies
PubMed: 33910358
DOI: 10.33699/PIS.2021.100.3.126-132 -
Otolaryngologic Clinics of North America Aug 2004High-resolution sonography is a significant imaging tool available for evaluation of the parathyroid glands. It works particularly well in concert with nuclear imaging,... (Review)
Review
High-resolution sonography is a significant imaging tool available for evaluation of the parathyroid glands. It works particularly well in concert with nuclear imaging, especially in assisting preoperative localization of parathyroid lesions and in guiding interventional parathyroid procedures. Its limitations relate to anatomic areas not accessible to insonation. In the hands of an experienced examiner, it is a cost-efficient and important adjunct for the endocrine surgeon.
Topics: Adenoma; Humans; Parathyroid Diseases; Parathyroid Glands; Parathyroid Neoplasms; Parathyroidectomy; Ultrasonography, Interventional
PubMed: 15262514
DOI: 10.1016/j.otc.2004.02.008 -
Best Practice & Research. Clinical... Dec 2018Several familial forms of primary hyperparathyroidism (PHTP) have been discovered over the past 25 years, and molecular test for their risk assessment has been widely... (Review)
Review
Several familial forms of primary hyperparathyroidism (PHTP) have been discovered over the past 25 years, and molecular test for their risk assessment has been widely increasing. These syndromic and non-syndromic forms have received benefits from the identification of the responsible genes whose mutations account for the genetic susceptibility to develop parathyroid tumours as also other endocrine and nonendocrine tumours. In recent years, care options have been made available to patients and families with hereditary PHPT, and the process of systematically assessing the genetic risk has been becoming increasingly important. The aim of this review is to help health providers not frequently dealing with genetic testing use, introducing general concepts with regard to genetic diagnosis issues. The role and the practical usefulness of DNA-based diagnosis in patients affected by different forms of "congenital" PHPT is described, closely looking on why, when and how genetic testing should be performed in these subjects and their relatives. Moreover, this review will provide some practical suggestions and recommendations concerning on how to deal with a suspected or known case of familial PHPT.
Topics: DNA Mutational Analysis; Genetic Predisposition to Disease; Genetic Testing; Humans; Hyperparathyroidism, Primary; Mutation; Parathyroid Diseases; Parathyroid Neoplasms
PubMed: 30665546
DOI: 10.1016/j.beem.2018.09.011