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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
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]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
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.
OBSOLETO. Hipoparatireoidismo raro.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hipoparatireoidismo raro
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Publicações mais relevantes
Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.
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.
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature.
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.
Delayed Onset Hypoparathyroidism Following Thyroidectomy: Case Report and Review of Literature.
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.
A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.
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.
Discovery and characterization of canvuparatide, a once-weekly parathyroid hormone analog for the treatment of hypoparathyroidism.
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.
Publicações recentes
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[A case report of severe hypocalcemia secondary to Fahr's syndrome].
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A novel mutation in exon 18 of FGFR1 causing hypoparathyroidism: A case report.
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📚 EuropePMC1 artigos no totalmostrando 197
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature.
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Osteoporosis and sarcopeniaAutoimmune hyperglycemia: beyond type 1 diabetes.
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Ear, nose, & throat journalOptic neuritis, as unusual manifestations of hypoparathyroidism: a rare case report.
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Diagnostics (Basel, Switzerland)Recurrent Seizures in an Adolescent Female With Extensive Intracranial Calcifications: A Case Report of Fahr's Syndrome Secondary to Hypoparathyroidism.
CureusAcute severe hypocalcaemia after initiation of a selective RET-inhibitor in medullary thyroid cancer.
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Yonsei medical journalAdaptation and validation of the French version of the Hypoparathyroid Patient Questionnaire 28 (HPQ28) in the ComPaRe-Epi-Hypo e-cohort.
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Molecular syndromologyUnusual presentation and management of parathyroid carcinoma with pulmonary metastasis: a case report.
AME case reports22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.
GenesHypercalcemia Following Adrenalectomy for Cushing Syndrome in a Patient with Post-Surgical Hypoparathyroidism.
Diseases (Basel, Switzerland)Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).
Journal of pediatric endocrinology & metabolism : JPEMProceedings 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 DensitometryDiagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel GATA3 Variant.
JCEM case reportsChapter 14: Post surgical follow-up of primary hyperparathyroidism.
Annales d'endocrinologieKenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.
Journal of clinical medicineLike milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.
PloS oneFahr's Syndrome With Hypoparathyroidism in a Patient With Schizophrenia and Iron Deficiency Anemia: A Case Report.
Clinical case reportsSpinal Cord Compression as the First Presentation of Primary Hyperoxaluria in a Patient With Kidney Failure: A Case Report and Literature Review.
Kidney medicineThyroid surgery in pediatric age: a 10-year experience at a single center and literature review.
Journal of pediatric endocrinology & metabolism : JPEMThe 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 internationalDe Novo Hypercalcaemia in a Patient With Chronic Hypoparathyroidism.
CureusMitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.
JIMD reportsPhenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
EpilepsiaHypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp.
Endocrinology, diabetes & metabolism case reportsContribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.
Heart (British Cardiac Society)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 psychiatrieHypoparathyroidism in adults with iron overload diseases (IOD): evidence of a subclinical phenotype.
EndocrineA Case of Osteitis Fibrosa Cystica of the Mandible: A Rare Presentation during Pregnancy due to CDC73 Mutation.
Journal of the ASEAN Federation of Endocrine SocietiesHydrocephalus in Sanajd Sakati syndrome: a first clinical report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryParathyroid hormone-based algorithm reduces complications after total thyroidectomy.
SurgeryFahr's Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights.
International journal of molecular sciencesNon-bacterial thrombotic endocarditis in long-standing primary hypoparathyroidism: A case report.
Turk gogus kalp damar cerrahisi dergisiIdentification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family.
EndocrineEctopic Cervical Thymic Tissue Mimicking Parathyroid Hyperplasia: A Rare Occurrence Linked to Graves Disease.
JCEM case reportsHypoparathyroidism with situs inversus totalis: A case report.
World journal of radiologyProton pump inhibitor-induced hypomagnesemia, a rare cause of reversible delirium: A case report with literature review.
MedicinePrimary Ηypoparathyroidism in a Patient With Sarcoidosis: A Case Report.
CureusRefractory Hypocalcemia Following Total Thyroidectomy in an Adult Patient With Bariatric Surgery.
CureusHypoparathyroidism: an update on new therapeutic approaches.
Endocrine2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.
BMC pediatricsPredictors of lumbar spine trabecular bone score in women with postsurgical hypoparathyroidism.
BoneRare Presentation of Atypical Fractures in a Patient of Autoimmune Polyglandular Syndrome - A Case Report.
Journal of orthopaedic case reportsA Rare Variant of Hashimoto's Thyroiditis.
Current health sciences journalDiagnosis and Screening of Velocardiofacial Syndrome by Evaluating Facial Photographs Using a Deep Learning-Based Algorithm.
Plastic and reconstructive surgeryWhitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy.
Clinical case reportsA Curious Case of Severe Recurrent Hypocalcemia.
CureusHDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report.
World journal of clinical casesHypocalcemic cardiomyopathy with heart failure: A rare Case report.
Clinical case reportsPosterior reversible encephalopathy syndrome and parkinsonism as the first manifestation of primary hyperparathyroidism - a report of two cases.
EndocrineHypoparathyroidism and assisted reproductive technology: considerations while undergoing ovarian hyperstimulation.
Current opinion in endocrinology, diabetes, and obesityAn 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 AssociationPrevalence and characteristics of postoperative and nonoperative chronic hypoparathyroidism in Japan: a nationwide retrospective analysis.
JBMR plusAn 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 & adolescent psychiatryMeasuring treatment impacts on symptoms in adults with hypoparathyroidism: findings from the PaTHway trial.
Journal of patient-reported outcomes[20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report].
Revista medica del Instituto Mexicano del Seguro Social[Advance of research on 22q11.2 deletion syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFirst case report of benign subcutaneous thyroid tissue implantation following transoral endoscopic thyroidectomy vestibular approach (TOETVA).
AME case reportsA novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report.
Open life sciencesA Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.
International journal of molecular sciencesNeurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.
Molecular psychiatryComprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.
Orphanet journal of rare diseasesExtent of magnitude representation deficit and relationship with arithmetic skills in children with 22q11.2DS.
Orphanet journal of rare diseasesPseudotumor Cerebri Due to a Rare Cause of Primary Hypoparathyroidism: Barakat Syndrome.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyHDR syndrome: Large cohort and systematic review.
Clinical geneticsFrom seizures to cognitive dysfunction: A case report of Fahr syndrome in an Afghan patient.
MedicineMulticenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.
American journal of medical genetics. Part AAn uncommon presentation of autoimmune polyglandular syndrome type 1 (APS-1)-A case report.
Clinical case reportsFull-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 journalOpen-label extension of a randomized trial investigating safety and efficacy of rhPTH(1-84) in hypoparathyroidism.
JBMR plusCOVID-19 infection with severe hypocalcaemia and superior mesenteric artery syndrome-a case report.
AME case reportsEvaluation of the Quality of Life in Moroccan Patients Diagnosed with Hypoparathyroidism.
International journal of endocrinologyEconomic burden of patients with post-surgical chronic and transient hypoparathyroidism in the United States examined using insurance claims data.
Orphanet journal of rare diseasesLessons From Prospective Longitudinal Follow-up of a French APECED Cohort.
The Journal of clinical endocrinology and metabolismDilated cardiomyopathy due to hypocalcaemia: a case report.
Journal of medical case reportsFurther delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).
Molecular genetics & genomic medicinePostnatal outcome of fetal aberrant right subclavian artery: a single center study.
Archives of gynecology and obstetricsPsychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity.
Psychiatry researchExploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome.
Journal of clinical research in pediatric endocrinologyNovel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.
HeliyonBeyond the Norm: Unusual Coexistence of Wilson's Disease and Hypoparathyroidism.
CureusBrain Calcifications Secondary to Idiopathic Hyperthyroidism and Hypoparathyroidism.
Ochsner journalThe 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)A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.
Molecular genetics and metabolism reportsAn Open-label Phase 2 Study of Eneboparatide, a Novel PTH Receptor 1 Agonist, in Hypoparathyroidism.
The Journal of clinical endocrinology and metabolismSanjad-Sakati Syndrome in a 35-day-old Iraqi Infant: A Case Report.
Oman medical journalRare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation.
BMJ case reportsHypocalcaemia As A Rare Reversible Cause Of Dilated Cardiomyopathy.
Journal of Ayub Medical College, Abbottabad : JAMCVariants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.
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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
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.
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.
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
Hipoparatireoidismo raro
📋 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
- Reposicionamento
- fonte: Drug Repurposing Hub