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Nuklearmedizin. Nuclear Medicine Aug 2019We present a patient with a history of thyroid cancer, presumably following radiochemotherapy of a childhood medulloblastoma, who developed a primary hyperparathyroidism...
We present a patient with a history of thyroid cancer, presumably following radiochemotherapy of a childhood medulloblastoma, who developed a primary hyperparathyroidism 10 years after long-term postsurgical hypoparathyroidism. All established imaging modalities failed to detect the origin and only selective neck sampling could identify the suspected parathyroid adenoma causing hyperparathyroidism. This encourages the use of selective neck vein catheterization, particularly in patients with only slightly elevated parathyroid hormone-levels or suspected small ectopic adenoma.
Topics: Diagnosis, Differential; Humans; Hyperparathyroidism, Primary; Parathyroid Neoplasms; Positron Emission Tomography Computed Tomography; Postoperative Period
PubMed: 31140182
DOI: 10.1055/a-0914-2451 -
Orphanet Journal of Rare Diseases Jan 2017The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The... (Review)
Review
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism). The A986S, R990G and Q1011E variants of the CASR gene are associated with higher serum calcium levels than in the general population, hypercalciuria being also associated with the R990G variant. The differential diagnosis consists in the hypocalciuric hypercalcaemia syndrome, types 2 (involving GNA11 gene) and 3 (involving AP2S1 gene); hyperparathyroidism; abnormalities of vitamin D metabolism, involving CYP24A1 and SLC34A1 genes; and reduced GFR. Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter's syndrome. The differential diagnosis consists of the hypercalciuric hypocalcaemia syndrome type 2, involving GNA11 gene and other hypoparathyroidism aetiologies. The acquired diseases are related to the presence of anti-CaSR antibodies, which can cause hyper- or especially hypocalcemia disorders (for instance in APECED syndromes), determined by their functionality. Finally, the role of CaSR in digestive, respiratory, cardiovascular and neoplastic diseases is gradually coming to light, providing new therapeutic possibilities. Two types of CaSR modulators are known: CaSR agonists (or activators, still named calcimimetics) and calcilytic antagonists (or inhibitors of the CasR). CaSR agonists, such as cinacalcet, are indicated in secondary and primary hyperparathyroidism. Calcilytics have no efficacy in osteoporosis, but could be useful in the treatment of hypercalciuric hypocalcaemia syndromes.
Topics: Animals; Calcium; GTP-Binding Protein alpha Subunits; Genetic Diseases, Inborn; Humans; Hypercalciuria; Hyperparathyroidism; Receptors, Calcium-Sensing
PubMed: 28122587
DOI: 10.1186/s13023-017-0570-z -
Frontiers in Immunology 2021Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes,... (Review)
Review
Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes, neutrophils, macrophages, and complements, does not function properly. The endocrine system is frequently affected by IEI as an associated clinical feature and a complex network of glands which regulate many important body functions, including growth, reproduction, homeostasis, and energy regulation. Most endocrine disorders associated with IEI are hypofunction which would be treated with supplementation therapy, and early diagnosis and appropriate management are essential for favorable long-term outcomes in patients with IEI. In this review, we aimed to comprehensively summarize and discuss the current understanding on the clinical features and the pathophysiology of endocrine disorders in IEI. This review is composed with three parts. First, we discuss the two major pathophysiology of endocrinopathy in IEI, autoimmune response and direct effects of the responsible genes. Next, the details of each endocrinopathy, such as growth failure, hypothyroidism, hypoparathyroidism, adrenal insufficiency, diabetes mellitus (DM) are specified. We also illustrated potential endocrinopathy due to hematopoietic stem cell transplantation, including hypogonadism and adrenal insufficiency due to glucocorticoid therapy.
Topics: Animals; Autoimmunity; Disease Models, Animal; Endocrine System Diseases; Glucocorticoids; Hematopoietic Stem Cell Transplantation; Humans; Primary Immunodeficiency Diseases
PubMed: 34887872
DOI: 10.3389/fimmu.2021.786241 -
Terapevticheskii Arkhiv Oct 2021The parathyroid glands are the most important regulators of mineral metabolism. The parathyroid glands were first discovered only in 1880 and their function went the... (Review)
Review
The parathyroid glands are the most important regulators of mineral metabolism. The parathyroid glands were first discovered only in 1880 and their function went the long way unrecognized. Even the term "parathyroid gland" itself speaks of the initial misconception of it as an underdeveloped part of the thyroid. To date, there is a large amount of data regarding the role of this endocrine gland in the human body and the significant changes associated with their dysfunction, including such widespread diseases such primary, secondary and tertiary hyperparathyroidism, hypoparathyroidism. This review covers the problem of the main disturbances in calcium-phosphorus metabolism, presents the results of databases of patients with primary hyperparathyroidism and hypoparathyroidism, as well as current epidemiological trends in Russia and in the world.
Topics: Humans; Calcium; Hypoparathyroidism; Parathyroid Glands; Phosphorus; Minerals; Parathyroid Hormone
PubMed: 36286815
DOI: 10.26442/00403660.2021.10.201109 -
Praxis Sep 2021CME: Hypocalcemia and Hypoparathyroidism Dyselectrolytemias are common, but not immediately clearly assignable. In addition to hyponatremia, hypercalcemia plays an...
CME: Hypocalcemia and Hypoparathyroidism Dyselectrolytemias are common, but not immediately clearly assignable. In addition to hyponatremia, hypercalcemia plays an important role in clinical practice. Clinically no less relevant are hypocalcemias and a frequently underlying primary hypoparathyroidism, which in most cases is iatrogenic - caused by thyroid surgery. The therapeutic goal includes not only adequate calcium control but also the detection and treatment of secondary complications in cases of chronic hypoparathyroidism.
Topics: Calcium; Humans; Hypercalcemia; Hypocalcemia; Hypoparathyroidism; Thyroidectomy
PubMed: 34583536
DOI: 10.1024/1661-8157/a003751 -
Clinical Immunology (Orlando, Fla.) Oct 2023Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who...
Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34 cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment.
Topics: Humans; Paired Box Transcription Factors; Phenotype; T-Lymphocytes; Thymus Gland; Severe Combined Immunodeficiency
PubMed: 37689091
DOI: 10.1016/j.clim.2023.109757 -
Praxis 2021CME/Answers: Hypocalcemia and Hypoparathyroidism Dyselectrolytemias are common, but not immediately clearly assignable. In addition to hyponatremia, hypercalcemia plays...
CME/Answers: Hypocalcemia and Hypoparathyroidism Dyselectrolytemias are common, but not immediately clearly assignable. In addition to hyponatremia, hypercalcemia plays an important role in clinical practice. Clinically no less relevant are hypocalcemias and a frequently underlying primary hypoparathyroidism, which in most cases is iatrogenic - caused by thyroid surgery. The therapeutic goal includes not only adequate calcium control but also the detection and treatment of secondary complications in cases of chronic hypoparathyroidism.
Topics: Calcium; Humans; Hypercalcemia; Hypocalcemia; Hypoparathyroidism; Thyroidectomy
PubMed: 34702053
DOI: 10.1024/1661-8157/a003752 -
Annales D'endocrinologie May 2015Parathyroid hormone (PTH) is the primary regulator of blood calcium levels and bone metabolism. Insufficient levels of PTH lead to hypoparathyroidism, characterized by... (Review)
Review
Parathyroid hormone (PTH) is the primary regulator of blood calcium levels and bone metabolism. Insufficient levels of PTH lead to hypoparathyroidism, characterized by low serum calcium and elevated serum phosphate levels. It is most commonly caused by the inadvertent damage to the parathyroid glands during thyroid surgery. Patients with hypoparathyroidism are currently being treated with oral calcium and active vitamin D, and to avoid worsening hypercalciuria, target serum calcium levels are within the lower end of normal. With current treatment, patients may suffer from large swings in serum calcium and are at a substantial risk of chronic renal failure, nephrocalcinosis, and kidney stones. The recent FDA approval of recombinant human (rh) PTH(1-84) for the treatment of hypoparathyroidism adds PTH replacement therapy to the endocrinologist's armamentarium to treat this chronic disease.
Topics: Calcium; Hormone Replacement Therapy; Humans; Hypoparathyroidism; Kidney Diseases; Parathyroid Hormone; Phosphates; Recombinant Proteins; Vitamin D
PubMed: 25882889
DOI: 10.1016/j.ando.2015.03.009 -
Journal of Bone and Mineral Research :... Nov 2022To develop guidelines for hypoparathyroidism and primary hyperparathyroidism, the panel assembled a panel of experts in parathyroid disorders, general endocrinologists,...
To develop guidelines for hypoparathyroidism and primary hyperparathyroidism, the panel assembled a panel of experts in parathyroid disorders, general endocrinologists, representatives of the Hypoparathyroidism Association, and systematic review and guideline methodologists. The guideline panel referred to a formal process following the Recommendations, Assessment, Development, and Evaluation Working Group (GRADE) methodology to issue GRADEd recommendations. In this approach, panelists and methodologists formatted the questions, conducted systematic reviews, evaluated risk of bias, assessed certainty of evidence, and presented a summary of findings in a transparent fashion. For most recommendations, the task forces used a less structured approach largely based on narrative reviews to issue non-GRADEd recommendations. The panel issued Eight GRADEd recommendations (seven for hypoparathyroidism and one for hyperparathyroidism). Each GRADEd recommendation is linked to the underlying body of evidence and judgments regarding the certainty of evidence and strength of recommendations, values and preferences, and costs, feasibility, acceptability and equity. This article summarizes the methodology for issuing GRADEd and non-GRADEd recommendations for patients with hypoparathyroidism or hyperparathyroidism. © 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
Topics: Humans; Hyperparathyroidism, Primary; Hypoparathyroidism; Systematic Reviews as Topic
PubMed: 36053800
DOI: 10.1002/jbmr.4687 -
The Journal of the Association of... Mar 2023Awareness regarding the etiological spectrum of tetany is poor among physicians. Because of poor awareness, tetany is underdiagnosed and undertreated.
INTRODUCTION
Awareness regarding the etiological spectrum of tetany is poor among physicians. Because of poor awareness, tetany is underdiagnosed and undertreated.
MATERIALS AND METHODS
Databases like PubMed, PubMed Central, Scopus, and Google Scholar are searched to identify peer-reviewed articles on tetany. Case reports, case series, and original articles are analyzed to identify different causes of tetany prevalent in the community. Different causes found are analyzed and tabulated, and finally, a flowchart is made on the approach for diagnosing different underlying pathologies of tetany.
RESULTS
Both metabolic and respiratory alkalosis are important causes of tetany because of reduced ionized calcium levels. Gitelman syndrome (GS) is associated with metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria, and frequently causes normocalcemic tetany. Recurrent vomiting and primary hyperaldosteronism also cause tetany due to metabolic alkalosis. Hyperventilation syndrome (HVS) leads to respiratory alkalosis and is a frequent cause of tetany. Hyperventilation-induced tetany is also seen after spinal anesthesia and in respiratory disorders like asthma. Vitamin D deficiency (VDD), primary hypoparathyroidism, and pseudohypoparathyroidism (PHP) (1a, 1b, and 2) cause hypocalcemic tetany. Hypomagnesemia causes hypocalcemia and tetany due to peripheral parathyroid hormone resistance and impaired parathyroid hormone secretion. Drugs causing tetany include bisphosphonates, denosumab, cisplatin, antiepileptics, aminoglycosides, diuretics, etc. Tetany is also seen in acute pancreatitis, dengue, falciparum malaria, hyperemesis gravidarum, tumor lysis syndrome (TLS), massive blood transfusion, etc. Conclusion: The spectrum of disorders associated with tetany is diverse. Awareness of different causes will help early and proper diagnosis of tetany.
Topics: Humans; Tetany; Alkalosis, Respiratory; Hyperventilation; Acute Disease; Pancreatitis; Hypocalcemia; Alkalosis; Magnesium; Parathyroid Hormone; Calcium
PubMed: 37354510
DOI: 10.5005/japi-11001-0203