Presentation of Hypoparathyroidism: Etiologies and Clinical Features

Shoback, Dolores; Bilezikian, John P.; Costa, Aline G.; Dempster, David W.; Dralle, Henning; Khan, Aliya; Peacock, Munro; Raffaelli, Marco; Silva, Barbara C.; Thakker, Rajesh V.; Vokes, Tamara; Bouillon, Roger

doi:10.1210/jc.2015-3909

Cited by 272 publications

(263 citation statements)

References 96 publications

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“…This finding is notably different from the increased BMD typically present in patients with other forms of hypoparathyroidism (29,30). It is also different from the findings of increased BMD in knockin mice expressing an activated CASR mutant (31).…”

Section: R6occontrasting

confidence: 79%

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors

Roszko

Gorvin

et al. 2017

JCI Insight

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Section: R6occontrasting

confidence: 79%

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors

Roszko

Gorvin

et al. 2017

JCI Insight

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“…It maintains calcium homeostasis by directly regulating bone remodeling and renal excretion, and indirectly regulating the production of 1,25-dihydroxyvitamin D. Deficiency of PTH leads to hypoparathyroidism, a metabolic disorder in which the diagnosis is confirmed by the occurrence of hypocalcemia (1). Although several etiologies may be associated with hypoparathyroidism, in approximately 75% of the patients the disease occurs after surgery in the anterior cervical region (thyroidectomy and parathyroidectomy) (2).…”

mentioning

confidence: 99%

“…The main morbidities affecting these patients are due to the occurrence of hypocalcemia and hyperphosphatemia and the adverse effects of long-term use of calcium and vitamin D treatment such as nephrolithiasis, nephrocalcinosis, and renal function impairment (1). Studies have shown that patients with hypoparathyroidism present a variety of psychological and neurological manifestations (6)(7)(8)(9) and a high prevalence of psychiatric morbidities (7,8), including an increased incidence of depression and bipolar disorder (7) and a greater risk of hospitalization due to neuropsychiatric conditions (8).…”

mentioning

confidence: 99%

Self-report of psychological symptoms in hypoparathyroidism patients on conventional therapy

Arneiro¹,

Duarte²,

Kulchetscki³

et al. 2018

Archives of Endocrinology and Metabolism

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Objective: Hypoparathyroidism is characterized by parathyroid hormone deficiency and hypocalcemia. It has been demonstrated that these patients may also present psychiatric symptoms and decrease of quality of life. The aims of this study were to evaluate the presence of psychopathological symptoms in a cohort of patients with hypoparathyroidism and compare to a control group. Subjects and methods: Patients were submitted to a cross-sectional Symptom Checklist-90-R (SCL-90-R) questionnaire that evaluates psychopathological symptoms by means of the Global Severity Index (GSI), Positive Symptoms Total (PST) and Positive Symptom Distress Index (PSDI). A score based in the positive symptoms was calculated (T-score). The test group was composed of patients with hypoparathyroidism, and control by thyroidectomized patients without hypoparathyroidism. A correlation between the presence of psychological symptoms and clinical features was analyzed. Results: The study included 57 patients with a mean age of 51.1 ± 16.4 years; 20 as a control and 37, test group. There were no differences between groups regarding gender, mean age and age at diagnose. Hypoparathyroidism patients presented higher GSI index than the control group (p = 0.038). Mean T-score of the test group was as elevated as 58.2 ± 5.3 (reference range < 55). No correlation of the number of psychological symptoms to clinical and laboratorial parameters was observed. Conclusion: Patients with hypoparathyroidism attending our outpatient clinics presented an increase in the number of self-report of psychological symptoms when compared with a control group. However, no correlation with hypocalcemia and clinical parameters was observed. Future studies are necessary to evaluated if the absence of PTH play a role on it.

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“…There is a spectrum of deficient parathyroid with clinical signs varying from asymptomatic to those of longstanding status [6].…”

Section: Hypoparathyroidismmentioning

confidence: 99%

Ocular Manifestations of Pediatric Systemic Disease

Lim

2016

Hanyang Med Rev

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An ocular manifestation of a systemic disease is an ocular condition that directly or indirectly results from a pathologic process from another part of the body. Ocular manifestations can occur in various systemic diseases in pediatrics. However, ocular manifestations are difficult to recognize especially in pediatric diseases because most clinicians ignore ocular involvement of systemic diseases. Ocular manifestations can be the first findings of systemic disease in some pediatric disease, and numerous ocular manifestations can be associated with amblyopia, which is a disorder of sight. Therefore we must be able to recognize the ocular manifestations for diagnosis and management of pediatric systemic diseases.Although we cannot deal with ocular manifestations of all pediatric systemic disease in this paper, we have reviewed particular diseases that are may be of interest to the general physician and pediatric ophthalmologists. This paper aims to review the ocular manifestations of various pediatric diseases. HYPERTHYROIDISMHyperthyroidism is caused by over secretion of thyroid hormone; during childhood, it is caused by Graves' hyperthyroidism, the most common cause of pediatric hyperthyroidism [1]. In children, the incidence of Graves' disease is about 1:10,000 [2]. Graves' hyperthyroidism is an autoimmune disorder; secretion of thyroidstimulating immunoglobulin that binds to and triggers the Gprotein-coupled thyroid-stimulating hormone (TSH) receptor results in diffuse enlargement of the thyroid gland. Other etiologies of hyperthyroidism include gain-of-function germline mutations in the TSH receptor, which are detected in both familial and sporadic cases of non-autoimmune hyperthyroidism. These subjects, whose disease can occur in the infantile period or in later childhood, have a hyperplastic thyroid gland with goiter and decreased levels of TSH.Childhood onset Graves' ophthalmopathy is uncommon and occurs mostly in girls. Pediatric diseases are important because diagnosis and care for these can be complex. Among them, specific diseases have been associated with ocular involvement. This review presents the ocular manifestations of various pediatric diseases relevant to the clinician. An array of ocular manifestations of hyperthyroidism, hypoparathyroidism, diabetes mellitus, porphyria, cystinosis, mucopolysaccharidosis, Wilson disease, juvenile idiopathic arthritis, systemic lupus erythematosus, Marfan syndrome, Weill-Marchesani syndrome are describ ed. In this review we will review ocular manifestations of systemic pediatric diseases for comprehensive understanding of eye involvement. With this review, authors can recognize the ocular manifestations for diagnosis and management of pediatric systemic diseases.

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Presentation of Hypoparathyroidism: Etiologies and Clinical Features

Abstract: Increased awareness of the etiology and presentation of the disease and new research efforts addressing specific questions formulated during the meeting should improve the diagnosis, care, and long-term outcome for patients.

Cited by 272 publications

References 96 publications

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors

Self-report of psychological symptoms in hypoparathyroidism patients on conventional therapy

Ocular Manifestations of Pediatric Systemic Disease

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