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Hipoparatireoidismo raro
ORPHA:181405PCDT · SUSDOENÇA RARA

OBSOLETO. Hipoparatireoidismo raro.

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Introdução

O que você precisa saber de cara

Mantido pelo Disease Twin86% com fonte · atualizado 05/06/2026Revisão médica pendente
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O hipoparatireoidismo raro é uma condição caracterizada pela produção insuficiente do hormônio paratireoidiano (PTH) pelas glândulas paratireoides, levando a níveis baixos de cálcio e níveis elevados de fósforo no sangue. Esta página foi criada para oferecer informações acolhedoras e rigorosas sobre esta condição rara.[1]

Sinais e sintomas

Os sintomas do hipoparatireoidismo raro podem variar amplamente entre os pacientes. Os mais comuns incluem formigamento nas pontas dos dedos, lábios e língua, cãibras musculares, fadiga e, em casos mais graves, convulsões. É importante lembrar que cada pessoa pode experimentar a condição de forma única.[1]

Causas genéticas

O hipoparatireoidismo raro pode ter causas genéticas, mas os genes específicos envolvidos ainda não foram totalmente identificados. A pesquisa genética está em andamento para entender melhor as bases hereditárias desta condição.[1][2]

Diagnóstico

O diagnóstico do hipoparatireoidismo raro é baseado em exames de sangue que mostram níveis baixos de cálcio e níveis elevados de fósforo, juntamente com níveis baixos ou inapropriadamente normais do hormônio paratireoidiano (PTH). Testes genéticos podem ser úteis em alguns casos para identificar possíveis causas hereditárias, mas não são obrigatórios para o diagnóstico.[1][2]

Tratamento e manejo

O tratamento do hipoparatireoidismo raro visa controlar os níveis de cálcio e fósforo no sangue. Medicamentos como calcitriol e ergocalciferol (formas de vitamina D) são frequentemente utilizados para ajudar a aumentar a absorção de cálcio pelo organismo. O acompanhamento médico regular é essencial para ajustar as doses e monitorar os níveis sanguíneos.[1]

Prognóstico e qualidade de vida

Com tratamento adequado e acompanhamento médico regular, muitas pessoas com hipoparatireoidismo raro conseguem manter uma boa qualidade de vida. O prognóstico depende do controle dos níveis de cálcio e da prevenção de complicações a longo prazo, como problemas renais ou neurológicos.[1]

Fontes numeradas em Referências.

Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.

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EM LINGUAGEM SIMPLES

O **hipoparatireoidismo raro** é um termo usado para agrupar formas incomuns de mau funcionamento das glândulas paratireoides. Na base de dados Orphanet, essa classificação é considerada uma categoria de doenças ou um termo obsoleto. No Brasil, existe um Protocolo Clínico e Diretrizes Terapêuticas (PCDT) do Ministério da Saúde para hipoparatireoidismo, embora ele trate da condição de forma geral. Medicamentos como OSTRIOL e SIGMATRIOL possuem registro na ANVISA, mas isso não significa que haja dispensação obrigatória nas farmácias do SUS.

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Informacoes curadas por IA — podem conter imprecisoes

OBSOLETO. Hipoparatireoidismo raro.

Medicamentos
2 com registro
OSTRIOL, SIGMATRIOL

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OSTRIOLSIGMATRIOL
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa3
Últimos 10 anos200publicações
Pico2025116 papers
Linha do tempo
2023Hoje · 2026🧪 1995Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Hipoparatireoidismo raro

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.

BMJ case reports2026 Jan 12

We report the case of a male in his late teens who presented to our emergency department with acute generalised tonic-clonic seizures. Neurological examination, neuroimaging and laboratory tests confirmed severe hypocalcaemia, secondary to hypoparathyroidism, as the cause of his seizures. A detailed history was significant for recurrent urinary tract infections and epilepsy, accompanied by impaired academic performance and an intracardiac repair 8 years prior to presentation for a congenital cyanotic heart disease. Dysmorphic features on clinical examination, accompanied by the chronicity of complaints, led us to consider a genetic syndrome. On genomic microarray analysis (GMA), a 22q11.21 deletion was detected. The present case aims to highlight how commonly encountered laboratory findings, such as hypocalcaemia, can facilitate the identification of genetic associations like 22q11.2 deletion syndrome (22q11.2DS), a rare diagnosis in adulthood. In many cases, clinical problems may be managed in isolation without triggering a unifying diagnosis.

#2

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature.

American journal of medical genetics. Part A2026 Mar 19

Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders. We present a case report of a woman diagnosed with the rare mtDNA variant m.10010T>C. The case report includes a detailed clinical evaluation, heteroplasmy measurements across several tissues, and a review of previously published cases of patients heteroplasmic for the m.10010T>C variant. The patient developed myopathy and exercise-induced dyspnoea at 24 years of age. Nineteen years later, progressive muscle symptoms were accompanied by elevated blood lactate and hypoparathyroidism. Muscle biopsy revealed abnormal mitochondrial morphology with cytochrome C oxidase-negative fibers and deficiencies in respiratory chain Complexes I, II, and IV. Genetic analysis identified the m.10010T>C variant with 95% heteroplasmy in the muscle biopsy, 20% in urine, 4% in buccal mucosa, and undetectable in blood (< 1%). We report the first case of a m.10010T>C carrier with hypoparathyroidism, which is a rare and unexplained finding in mitochondrial disorders that may exacerbate myopathy.

#3

Delayed Onset Hypoparathyroidism Following Thyroidectomy: Case Report and Review of Literature.

Cureus2026 Feb

Delayed postsurgical hypoparathyroidism (hypoPT) is a rare but important complication of thyroidectomy, often presenting years after the initial procedure. We report the case of a 48-year-old woman with a remote history of total thyroidectomy for Graves' disease, who presented with neuromuscular symptoms and severe hypocalcemia 22 years after surgery. Laboratory investigations revealed low calcium, low parathyroid hormone (PTH), and elevated phosphate, consistent with hypoPT. The patient was initially managed with intravenous calcium followed by alfacalcidol therapy. Literature review highlights that most cases of delayed hypoPT occur in women following total thyroidectomy and vitamin D deficiency. Mechanisms may involve progressive parathyroid hypovascularisation and scar retraction. Current guidelines do not recommend routine long-term calcium monitoring post thyroidectomy, but this case underscores the need for vigilance and patient education regarding hypocalcemia symptoms. Lifelong follow-up may be warranted for high-risk individuals.

#4

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Journal of pediatric endocrinology &amp; metabolism : JPEM2026 Mar 16

Kenny-Caffey syndrome type 2 (KCS2) is a very rare genetic disorder characterized by growth retardation and hypoparathyroidism, due to autosomal dominantly inherited pathogenic variants in the FAM111A gene. In this report, we presented a pediatric patient diagnosed as KCS2, with severe short stature and late-onset hypocalcemia. A 7-year-old male patient was referred to our clinic for growth retardation. His body weight, height, and body mass index were 13.1 kg [(-4.9) standard deviation (SD) score], 94.8 cm (-5.4 SD score), and 14.6 kg/m2 (-0.8 SD score), respectively. He had dysmorphic features including a triangular face, frontal bossing, low-set ears, and a bulbous nose. His height velocity was 3.97 cm/year (-1.1 SD score), and serum insulin-like growth factor-1 level was low. The peak growth hormone (GH) response during the GH stimulation tests was 8.5 ng/mL. Pituitary magnetic resonance imaging showed a partially empty sella and GH treatment was initiated. At the end of the first year of treatment, routine laboratory tests revealed hypocalcemia, hyperphosphatemia, and inappropriately low parathyroid hormone levels. His skeletal survey demonstrated cortical thickening and medullary stenosis of the long bones. Based on these findings, KCS2 was considered in the differential diagnosis, and genetic testing revealed a heterozygous pathogenic variant (c.1706G>A) in FAM111A. KCS2 should be considered in patients with severe growth retardation and hypoparathyroidism, particularly when cortical thickening and medullary narrowing of long bones are observed. Responses to the GH treatment may vary among those individuals, and hypocalcemia may occur in the form of transient episodes.

#5

Discovery and characterization of canvuparatide, a once-weekly parathyroid hormone analog for the treatment of hypoparathyroidism.

Molecular metabolism2026 Mar 02

Hypoparathyroidism is a rare endocrine disorder characterized by hypocalcemia, hyperphosphatemia, and low or undetectable levels of parathyroid hormone (PTH). Advanced treatments that precisely maintain blood calcium levels within the normal range to improve disease symptoms and outcomes are needed. Canvuparatide (formerly known as MBX 2109) is a once-weekly investigational PTH analog that undergoes a controlled-release conversion to a biologically active peptide through an intramolecular cyclization reaction controlled by temperature and pH. Here we demonstrate the biologically active PTH analog, derived from the canvuparatide prodrug, stimulated dose-dependent accumulation of cyclic AMP to a similar degree and selectivity as a synthetic form of the human PTH(1-34) peptide in human cells overexpressing the PTH type 1 receptor. In healthy rats treated with canvuparatide at 4-40 nmol/kg/day for 28 days and healthy cynomolgus monkeys treated with single doses of canvuparatide 3.75-7.5 nmol/kg, prodrug and active peptide concentrations increased dose proportionally and correlated with increases in serum calcium concentrations. In parathyroidectomized rats, canvuparatide treatment at 10-40 nmol/kg normalized serum calcium levels and increased bone formation in a dose-proportional manner. In a phase 1, randomized, placebo-controlled study (NCT05158335), single subcutaneously administered doses of canvuparatide (50-600 μg) were well tolerated in healthy volunteers. Pharmacokinetic clinical profiles displayed geometric mean t1/2 values of 81-101 (canvuparatide prodrug) and 133-186 h (canvuparatide active peptide) across dose groups, supporting once-weekly dosing. These collective findings support clinical advancement of once-weekly canvuparatide therapy for patients with hypoparathyroidism.

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2026

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature.

American journal of medical genetics. Part A
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Delayed Onset Hypoparathyroidism Following Thyroidectomy: Case Report and Review of Literature.

Cureus
2026

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Journal of pediatric endocrinology &amp; metabolism : JPEM
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Discovery and characterization of canvuparatide, a once-weekly parathyroid hormone analog for the treatment of hypoparathyroidism.

Molecular metabolism
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Idiopathic Hypoparathyroidism in an Osteoporosis Patient Receiving Denosumab Therapy.

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When One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.

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[A case report of severe hypocalcemia secondary to Fahr's syndrome].

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Annals of medicine and surgery (2012)
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Cerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism-A Case Report.

AACE endocrinology and diabetes
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Basal Ganglia Calcification Secondary to Postsurgical Hypoparathyroidism Presenting With Seizures and Acute Confusion: A Case Report (Fahr Syndrome).

Cureus
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The systemic effects of 22q11.2 deletion syndrome on immunity.

Journal of human immunity
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A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation.

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Eleven-Year-Old Girl With Bilateral Leg Pain: A Case Report on Recognizing Hypoparathyroidism in Pediatric Practice.

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Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.

BMJ case reports
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The Journal of international medical research
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European journal of endocrinology
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Use of total calcium in hypoparathyroidism: a pragmatic approach but with limitations.

European journal of endocrinology
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Patient-reported outcomes in palopegteriparatide-treated adults with hypoparathyroidism: PaTH Forward trial extension.

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bioRxiv : the preprint server for biology
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Journal of neurodevelopmental disorders
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EndoCompass Project: Research Roadmap for Calcium and Bone Endocrinology.

Hormone research in paediatrics
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Narrative Review on Parathyroid Gland Disorders in Individuals Living with HIV: An Update.

Metabolites
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Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study.

Orphanet journal of rare diseases
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Trends in thyroid surgery in Japan from 2014 to 2023: report on the National Clinical Database.

Surgery today
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Revised European Society of Endocrinology Clinical Practice Guideline: Treatment of Chronic Hypoparathyroidism in Adults.

European journal of endocrinology
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Cureus
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Annals of medicine and surgery (2012)
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Medicina (Kaunas, Lithuania)
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Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome.

BMC endocrine disorders
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Severe primary hyperparathyroidism with extensive brown tumours and multiple fractures in pregnancy.

BMJ case reports
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Advances in therapy
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ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

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Fluorescent Imaging in Thyroid Surgery to Preserve Parathyroid Function: A Systematic Review and Meta-Analysis.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
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Hypocalcemia-related pustulosis: a case report.

Journal of medical case reports
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Advances in the clinical management of parathyroid disorders: report from the 2024 workshop by the ESE educational program on parathyroid disorders.

European journal of endocrinology
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An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15.

Case reports in nephrology
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Diagnostic Challenges in Fahr's Disease: A Rare Case of Extensive Basal Ganglia Calcifications.

Cureus
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Chronic granulomatous herpes simplex encephalitis in a child with digeorge syndrome- expanding the spectrum of herpes-associated neurological disease.

BMC infectious diseases
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Journal of clinical medicine
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International journal of molecular sciences
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Frontiers in immunology
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Ductal stenting for hypoplastic left heart syndrome with right aortic arch associated with 20q11.2 microdeletion syndrome.

Cardiology in the young
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Stone, paper… seizure? A case report of hypocalcemic seizures worsened by anti-seizure medications.

The American journal of emergency medicine
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Endocrinology, diabetes &amp; metabolism case reports
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Seizures and hypoparathyroidism post-thyroidectomy: Fahr's syndrome.

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Diagnostics (Basel, Switzerland)
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Approach to the Patient With Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1.

The Journal of clinical endocrinology and metabolism
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Annals of medicine and surgery (2012)
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Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome.

Orphanet journal of rare diseases
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An adolescent with newly diagnosed Wilson disease having underlying type 1 diabetes: A previously unreported combination.

Journal of family medicine and primary care
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Consensus-Based Recommendations for the Diagnosis, Treatment, and Monitoring of Hypoparathyroidism: Insights from the DACH Region.

Calcified tissue international
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[A rare case of autoimmune polyglandular syndrome type 2 in an elderly patient].

Medicina
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Durvalumab-Induced Hypoparathyroidism.

AACE endocrinology and diabetes
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Blood cells, molecules &amp; diseases
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An interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.

Hormones (Athens, Greece)
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JCEM case reports
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Paradoxical Inadequate Parathyroid Hormone Secretion Secondary to Severe Hypomagnesemia: A Review of the Literature.

Kidney medicine
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An Unusual Presentation of Multifactorial Hypocalcemia as Myopathy: A Case Report.

Cureus
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A case of hypoparathyroidism with cardiovascular complications: interventricular septal dissecting aneurysm in a middle-aged woman.

BMC endocrine disorders
2025

Bone status in patients with chronic hypoparathyroidism: results from the Italian HypoparaNET database.

Aging clinical and experimental research
2025

Fahr's Syndrome With Neurocognitive Dysfunction Due to Hypoparathyroidism: A Case Report.

Case reports in endocrinology
2025

Chronic Hypoparathyroidism-Current and Emerging Therapies.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
2025

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

American journal of human genetics
2025

Hypoparathyroidism induced by immune checkpoint inhibitors: a review of literature reports and real-world pharmacovigilance data.

Endocrine connections
2025

Best practice recommendations for the diagnosis and management of hypoparathyroidism.

Metabolism: clinical and experimental
2025

Diagnosis and management of hypoparathyroidism: recommendations of the working group of the Bone Section of the Hellenic Endocrine Society.

Hormones (Athens, Greece)
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Unveiling the Psychiatric and Neurological Manifestations of Idiopathic Hypoparathyroidism: A Case of Auditory Hallucinations and Seizure Disorder.

The Journal of the Association of Physicians of India
2025

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Cureus
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Outcomes in Pediatric Thyroid Surgery Across Multiple Institutions.

The Journal of surgical research
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A Rare Case of Refractory Epilepsy Associated With Brain Calcifications and Mucocutaneous Candidiasis.

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Qatar medical journal
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The impact of 22q11.2 deletion syndrome on caregivers: assessing quality of life and burden.

Orphanet journal of rare diseases
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Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.

BMJ case reports
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Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.

Orphanet journal of rare diseases
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Severe hypocalcemia due to osteoblastic bone metastases in a patient with hypoparathyroidism: a case report.

Acta clinica Belgica
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An Extremely Rare Case of Immune Checkpoint Inhibitors-Related Hypoparathyroidism and a Critical Literature Review.

JCEM case reports
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Prenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study.

Journal of clinical laboratory analysis
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Pernicious Anemia in a Pediatric Patient With Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.

JCEM case reports
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A Rare Case of Hypoparathyroidism With Basal Ganglia Calcification in a 17-year-old Epileptic Patient Presenting With Falciparum Malaria, Thrombocytopenia and Anemia.

Clinical medicine insights. Case reports
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International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
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Two novel rare variants in the PTH gene found in patients with hypoparathyroidism.

Osteoporosis and sarcopenia
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Autoimmune hyperglycemia: beyond type 1 diabetes.

Acta diabetologica
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First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes.

Molecular genetics &amp; genomic medicine
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Journal of clinical psychopharmacology
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Bone in Parathyroid Diseases Revisited: Evidence From Epidemiological, Surgical and New Drug Outcomes.

Endocrine reviews
2025

Riedel's Thyroiditis and Noninvasive Follicular Neoplasm With Papillary-Like Nuclear Features: A unique coexistence and diagnostic challenge.

Ear, nose, &amp; throat journal
2025

Optic neuritis, as unusual manifestations of hypoparathyroidism: a rare case report.

BMC ophthalmology
2025

Intraoperative Management of Parathyroid Glands and Long-Term Outcome of Parathyroid Function Following Total Thyroidectomy.

Diagnostics (Basel, Switzerland)
2025

Recurrent Seizures in an Adolescent Female With Extensive Intracranial Calcifications: A Case Report of Fahr's Syndrome Secondary to Hypoparathyroidism.

Cureus
2025

Acute severe hypocalcaemia after initiation of a selective RET-inhibitor in medullary thyroid cancer.

Endocrine oncology (Bristol, England)
2024

Hypocalcemia Induced Optic Neuropathy in a Patient with Undiagnosed Hypocalcemia, Deafness, and Renal Syndrome.

Oman medical journal
2025

Management of primary hyperparathyroidism in MEN1: From initial subtotal surgery to complex treatment of the remaining gland.

Annales d'endocrinologie
2025

Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary.

Yonsei medical journal
2025

Adaptation and validation of the French version of the Hypoparathyroid Patient Questionnaire 28 (HPQ28) in the ComPaRe-Epi-Hypo e-cohort.

JBMR plus
2025

Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges.

Einstein (Sao Paulo, Brazil)
2025

Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.

JCI insight
2025

Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2.

Molecular syndromology
2025

Unusual presentation and management of parathyroid carcinoma with pulmonary metastasis: a case report.

AME case reports
2025

22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.

Genes
2025

Hypercalcemia Following Adrenalectomy for Cushing Syndrome in a Patient with Post-Surgical Hypoparathyroidism.

Diseases (Basel, Switzerland)
2025

Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Proceedings of the 2024 Santa Fe Bone Symposium: Update on the Management of Osteoporosis and Rare Bone Diseases.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry
2025

Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel GATA3 Variant.

JCEM case reports
2025

Chapter 14: Post surgical follow-up of primary hyperparathyroidism.

Annales d'endocrinologie
2024

Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.

Journal of clinical medicine
2025

Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.

PloS one
2025

Fahr's Syndrome With Hypoparathyroidism in a Patient With Schizophrenia and Iron Deficiency Anemia: A Case Report.

Clinical case reports
2025

Spinal Cord Compression as the First Presentation of Primary Hyperoxaluria in a Patient With Kidney Failure: A Case Report and Literature Review.

Kidney medicine
2025

Thyroid surgery in pediatric age: a 10-year experience at a single center and literature review.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene.

Calcified tissue international
2024

De Novo Hypercalcaemia in a Patient With Chronic Hypoparathyroidism.

Cureus
2025

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

JIMD reports
2025

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Epilepsia
2024

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp.

Endocrinology, diabetes &amp; metabolism case reports
2025

Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.

Heart (British Cardiac Society)
2025

Real-World Treatment of Schizophrenia in Adults With a 22q11.2 Microdeletion: Traitement dans le monde réel de la schizophrénie chez des adultes atteints du syndrome de microdélétion 22q11.2.

Canadian journal of psychiatry. Revue canadienne de psychiatrie
2025

Hypoparathyroidism in adults with iron overload diseases (IOD): evidence of a subclinical phenotype.

Endocrine
2024

A Case of Osteitis Fibrosa Cystica of the Mandible: A Rare Presentation during Pregnancy due to CDC73 Mutation.

Journal of the ASEAN Federation of Endocrine Societies
2024

Hydrocephalus in Sanajd Sakati syndrome: a first clinical report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Parathyroid hormone-based algorithm reduces complications after total thyroidectomy.

Surgery
2024

Fahr's Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights.

International journal of molecular sciences
2024

Non-bacterial thrombotic endocarditis in long-standing primary hypoparathyroidism: A case report.

Turk gogus kalp damar cerrahisi dergisi
2025

Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family.

Endocrine
2024

Ectopic Cervical Thymic Tissue Mimicking Parathyroid Hyperplasia: A Rare Occurrence Linked to Graves Disease.

JCEM case reports
2024

Hypoparathyroidism with situs inversus totalis: A case report.

World journal of radiology
2024

Proton pump inhibitor-induced hypomagnesemia, a rare cause of reversible delirium: A case report with literature review.

Medicine
2024

Primary Ηypoparathyroidism in a Patient With Sarcoidosis: A Case Report.

Cureus
2024

Refractory Hypocalcemia Following Total Thyroidectomy in an Adult Patient With Bariatric Surgery.

Cureus
2025

Hypoparathyroidism: an update on new therapeutic approaches.

Endocrine
2024

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.

BMC pediatrics
2025

Predictors of lumbar spine trabecular bone score in women with postsurgical hypoparathyroidism.

Bone
2024

Rare Presentation of Atypical Fractures in a Patient of Autoimmune Polyglandular Syndrome - A Case Report.

Journal of orthopaedic case reports
2024

A Rare Variant of Hashimoto's Thyroiditis.

Current health sciences journal
2025

Diagnosis and Screening of Velocardiofacial Syndrome by Evaluating Facial Photographs Using a Deep Learning-Based Algorithm.

Plastic and reconstructive surgery
2024

Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy.

Clinical case reports
2024

A Curious Case of Severe Recurrent Hypocalcemia.

Cureus
2024

HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report.

World journal of clinical cases
2024

Hypocalcemic cardiomyopathy with heart failure: A rare Case report.

Clinical case reports
2024

Posterior reversible encephalopathy syndrome and parkinsonism as the first manifestation of primary hyperparathyroidism - a report of two cases.

Endocrine
2024

Hypoparathyroidism and assisted reproductive technology: considerations while undergoing ovarian hyperstimulation.

Current opinion in endocrinology, diabetes, and obesity
2025

An Assessment of Adverse Events in Patients with 22q11.2 Deletion Syndrome Undergoing Palatoplasty: An Analysis of the NSQIP Pediatric Database.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Prevalence and characteristics of postoperative and nonoperative chronic hypoparathyroidism in Japan: a nationwide retrospective analysis.

JBMR plus
2025

An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature.

European child &amp; adolescent psychiatry
2024

Measuring treatment impacts on symptoms in adults with hypoparathyroidism: findings from the PaTHway trial.

Journal of patient-reported outcomes
2024

[20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report].

Revista medica del Instituto Mexicano del Seguro Social
2024

[Advance of research on 22q11.2 deletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

First case report of benign subcutaneous thyroid tissue implantation following transoral endoscopic thyroidectomy vestibular approach (TOETVA).

AME case reports
2024

A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report.

Open life sciences
2024

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.

International journal of molecular sciences
2025

Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.

Molecular psychiatry
2024

Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.

Orphanet journal of rare diseases
2024

Extent of magnitude representation deficit and relationship with arithmetic skills in children with 22q11.2DS.

Orphanet journal of rare diseases
2024

Pseudotumor Cerebri Due to a Rare Cause of Primary Hypoparathyroidism: Barakat Syndrome.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2024

HDR syndrome: Large cohort and systematic review.

Clinical genetics
2024

From seizures to cognitive dysfunction: A case report of Fahr syndrome in an Afghan patient.

Medicine
2024

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.

American journal of medical genetics. Part A
2024

An uncommon presentation of autoimmune polyglandular syndrome type 1 (APS-1)-A case report.

Clinical case reports
2024

Full-Mouth Rehabilitation of a 15-Year-Old Girl Affected by a Rare Hypoparathyroidism (Glial Cell Missing Homolog 2 Mutation): A 3-Year Follow-Up.

Dentistry journal
2024

Open-label extension of a randomized trial investigating safety and efficacy of rhPTH(1-84) in hypoparathyroidism.

JBMR plus
2024

COVID-19 infection with severe hypocalcaemia and superior mesenteric artery syndrome-a case report.

AME case reports
2024

Evaluation of the Quality of Life in Moroccan Patients Diagnosed with Hypoparathyroidism.

International journal of endocrinology
2024

Economic burden of patients with post-surgical chronic and transient hypoparathyroidism in the United States examined using insurance claims data.

Orphanet journal of rare diseases
2025

Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.

The Journal of clinical endocrinology and metabolism
2024

Dilated cardiomyopathy due to hypocalcaemia: a case report.

Journal of medical case reports
2024

Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).

Molecular genetics &amp; genomic medicine
2024

Postnatal outcome of fetal aberrant right subclavian artery: a single center study.

Archives of gynecology and obstetrics
2024

Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity.

Psychiatry research
2024

Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome.

Journal of clinical research in pediatric endocrinology
2024

Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.

Heliyon
2024

Beyond the Norm: Unusual Coexistence of Wilson's Disease and Hypoparathyroidism.

Cureus
2024

Brain Calcifications Secondary to Idiopathic Hyperthyroidism and Hypoparathyroidism.

Ochsner journal
2024

The impact of using near-infrared autofluorescence on parathyroid gland parameters and clinical outcomes during total thyroidectomy: a meta-analytic study of randomized controlled trials.

International journal of surgery (London, England)
2024

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.

Molecular genetics and metabolism reports
2024

An Open-label Phase 2 Study of Eneboparatide, a Novel PTH Receptor 1 Agonist, in Hypoparathyroidism.

The Journal of clinical endocrinology and metabolism
2024

Sanjad-Sakati Syndrome in a 35-day-old Iraqi Infant: A Case Report.

Oman medical journal
2024

Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation.

BMJ case reports
2023

Hypocalcaemia As A Rare Reversible Cause Of Dilated Cardiomyopathy.

Journal of Ayub Medical College, Abbottabad : JAMC
2024

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.

Genes

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Protocolo oficial relacionado (Ministério da Saúde)PCDT: Hipoparatireoidismo

Existe um documento oficial para "Hipoparatireoidismo". Ele pode não cobrir esta forma específica da doença — confira no texto do protocolo antes de contar com ele.

Respostas geradas por IA a partir das fontes citadas

Trata-se de uma categoria da base Orphanet sob o código ORPHA:181405 que reúne apresentações raras de disfunção da paratireoide. O registro oficial aponta este termo como uma categoria de agrupamento clínico.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

3 fontes citadas no texto · 9 publicações do grafo RarasNet (PubMed) · 5 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. MONDO
    purl.obolibrary.org
  2. Hipoparatireoidismo
    PCDT · Ministério da Saúde
  3. Q1586088
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (2026). Hipoparatireoidismo raro. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hipoparatireoidismo-raro

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Hipoparatireoidismo raro

ORPHA:181405 · MONDO:0015896
🇧🇷 Brasil SUS
Geral
MedGen
UMLS
C0020626
Repurposing
2 candidatos
calcitriol — vitamin D receptor agonist
ergocalciferol — vitamin analog
EuropePMC
Wikidata
Wikipedia

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Rara