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Ectopia da tireoide
ORPHA:95712CID-10 · E03.1CID-11 · 5A00.01DOENÇA RARA

A ectopia da tireoide é uma forma de disgenesia da tireoide caracterizada por uma localização ectópica da glândula tireoide que resulta em hipotireoidismo congênito primário, uma deficiência permanente da tireoide que está presente desde o nascimento.

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Introdução

O que você precisa saber de cara

📋

A ectopia da tireoide é uma forma de disgenesia da tireoide caracterizada por uma localização ectópica da glândula tireoide que resulta em hipotireoidismo congênito primário, uma deficiência permanente da tireoide que está presente desde o nascimento.

Publicações científicas
81 artigos
Último publicado: 2026 Feb

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
14.3
Europe
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 20%
CID-10: E03.1
🇧🇷Dados SUS / DATASUS2024
420
internações/ano
R$ 1.890
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
SPMGRJBARS
PROCEDIMENTOS SIGTAP (1)
0202080013
Teste do pezinho (triagem neonatal)newborn_screening
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

📏
Crescimento
6 sintomas
🫃
Digestivo
4 sintomas
🧠
Neurológico
3 sintomas
😀
Face
2 sintomas
💪
Músculos
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

100%prev.
Tireoide ectópica
90%prev.
Tireoide lingual
Muito frequente (99-80%)
90%prev.
Hipersonia
90%prev.
Icterícia
Muito frequente (99-80%)
90%prev.
Hérnia umbilical
Muito frequente (99-80%)
90%prev.
Anormalidade da glândula tireoide
Muito frequente (99-80%)
27sintomas
Muito frequente (17)
Frequente (8)
Ocasional (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 27 características clínicas mais associadas, ordenadas por frequência.

Tireoide ectópicaEctopic thyroid
Muito frequente100%
Tireoide lingualLingual thyroid
Muito frequente (99-80%)90%
HipersoniaHypersomnia
Muito frequente90%
IcteríciaJaundice
Muito frequente (99-80%)90%
Hérnia umbilicalUmbilical hernia
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico81PubMed
Últimos 10 anos24publicações
Pico20184 papers
Linha do tempo
2026Hoje · 2026🧪 2011Primeiro ensaio clínico📈 2018Ano 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

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.

NKX2-5Homeobox protein Nkx-2.5Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4 (By similarity). May cooperate with TBX2 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). Together with PBX1, required for spleen development through a mechanism that involves CD

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
Physiological factorsYAP1- and WWTR1 (TAZ)-stimulated gene expressionCardiogenesis
MECANISMO DE DOENÇA

Atrial septal defect 7, with or without atrioventricular conduction defects

A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases.

EXPRESSÃO TECIDUAL(Tecido-específico)
Coração - Átrio
113.8 TPM
Coração - Ventrículo esquerdo
108.3 TPM
Baço
44.1 TPM
Adipose Visceral Omentum
0.5 TPM
Testículo
0.3 TPM
OUTRAS DOENÇAS (15)
hypoplastic left heart syndrome 2tetralogy of fallotventricular septal defect 3hypothyroidism, congenital, nongoitrous, 5
HGNC:2488UniProt:P52952
PAX8Paired box protein Pax-8Disease-causing germline mutation(s) (loss of function) inAltamente restrito
FUNÇÃO

Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (2)
Formation of the nephric ductFormation of intermediate mesoderm
MECANISMO DE DOENÇA

Hypothyroidism, congenital, non-goitrous, 2

A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.

EXPRESSÃO TECIDUAL(Ubíquo)
Tireoide
1192.7 TPM
Rim - Medula
275.9 TPM
Rim - Córtex
170.0 TPM
Fallopian Tube
28.9 TPM
Glândula adrenal
5.5 TPM
OUTRAS DOENÇAS (5)
hypothyroidism, congenital, nongoitrous, 2thyroid hypoplasiaathyreosisdifferentiated thyroid carcinoma
HGNC:8622UniProt:Q06710

Variantes genéticas (ClinVar)

313 variantes patogênicas registradas no ClinVar.

🧬 PAX8: NM_003466.4(PAX8):c.268_270del (p.Glu90del) ()
🧬 PAX8: NM_003466.4(PAX8):c.928G>T (p.Glu310Ter) ()
🧬 PAX8: NM_003466.4(PAX8):c.936dup (p.Glu313fs) ()
🧬 PAX8: NM_003466.4(PAX8):c.571C>A (p.Pro191Thr) ()
🧬 PAX8: NM_003466.4(PAX8):c.848C>T (p.Thr283Met) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Ectopia da tireoide

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
24 papers (10 anos)
#1

Intratracheal ectopic thyroid: A rare cause of upper airway obstruction.

JPMA. The Journal of the Pakistan Medical Association2026 Feb

Intra-tracheal thyroid is a rare ectopic thyroid disease. Presenting symptoms can mimic those of airway obstruction such as bronchial asthma. We report the case of a male patient who presented with airway obstruction due to thyroid ectopia and was misdiagnosed initially with bronchial asthma. After a correct diagnosis of intratracheolaryneal thyroid, the case was managed by excision. Surgery is the mainstay of treatment for patients with clinical signs of airway obstruction. We present our experience of his one-month follow-up after resection. Currently, the patient is free of symptoms.

#2

Radioiodine Therapy: Alternative for the Treatment of Complicated Thyroid Ectopia.

Cureus2024 Feb

Thyroid ectopy is the presence of thyroid tissue outside its normal cervical location. Clinical manifestations of thyroid ectopy are varied. The latter complications can be life-threatening. Emergency treatment is often surgical or endoscopic. We report a case of a 26-year-old man with tracheal thyroid ectopy, complicated by respiratory distress, in whom conventional treatments were not feasible. The patient was treated with radioiodine-131 administered in liquid form. The final control showed the complete resolution of the intra-tracheal mass. Intra-tracheal thyroid ectopy is a rare anomaly in which surgery is the traditional treatment. In certain cases where surgery is not feasible or refused, treatment with iodine-131 is a safe and effective alternative for the removal of ectopic thyroid tissue. The aim of our work is to show the significant efficiency of radioiodine therapy as an alternative for the treatment of complicated thyroid ectopia.

#3

[Ectopic thyroid gland: clinical features and diagnostics in children].

Problemy endokrinologii2022 Feb 25

BACKGROUND: The frequency of ectopia of thyroid gland among all types of dysgenesis varies from 30 to 70%, its most common localization is the root of the tongue. Otorhinolaryngologists, oncologists, pediatricians can take lingual ectopia for hypertrophy of the lingual tonsil or fibroma of the tongue root, which leads to unreasonable surgical treatment. Thyroid scintigraphy plays a key role in the diagnosis of ectopia. AIM: To assess the etiological structure of congenital hypothyroidism (CH) and demonstrate the clinical course in patients with ectopic thyroid tissue in the root of the tongue. MATERIALS AND METHODS: A group of patients with CH was examined. All patients underwent neck ultrasound and radionuclide imaging. The examination was carried out against the background of the abolition of hormone replacement therapy for 14 days or before its initiation. Patients with ectopia in the root of the tongue underwent videofibrolaryngoscopy. Some patients underwent a genetic study with using genes panel of a panel of candidate genes responsible for the development of CH using the NGS method. The molecular genetic study was conducted to some patients, next-generation sequencing with the genes panel. RESULTS: The study included 73 patients with primary CH aged from 2 weeks to 17.3 years: 69 children were diagnosed based on the results of neonatal screening, 4 children with thyroid ectopia were first examined older than 6 years. The median age of patients at the time of the examination was 6.9 years [4.8; 10.0]. By data of ultrasound aplasia was diagnosed in 47.9% of patients, one child had hemiagenesis and ectopic thyroid tissue of various localization was detected in 26.0% of  children. In 24.7% of children thyroid tissue was found in a typical location. Scintigraphy confirmed thyroid aplasia in 65.7% of children. Examination revealed various variants of ectopically located thyroid tissue in 31 children (42.4%): thyroid ectopia in the root of the tongue in 25 children (80.6%), ectopia in the sublingual region in 5 children (16.2%), double ectopia was detected in 1 child. The median level of TSH in newborns with ectopic thyroid gland was 124 IU/ml and was significantly lower than in children with aplasia — 219 IU/ml, p<0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia — 37.12 ng/ml versus 0.82 ng/ml, p><0.05. CONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH — ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment. ><0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia — 37.12 ng/ml versus 0.82 ng/ml, p< 0.05. CONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH — ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment. The frequency of ectopia of thyroid gland among all types of dysgenesis varies from 30 to 70%, its most common localization is the root of the tongue. Otorhinolaryngologists, oncologists, pediatricians can take lingual ectopia for hypertrophy of the lingual tonsil or fibroma of the tongue root, which leads to unreasonable surgical treatment. Thyroid scintigraphy plays a key role in the diagnosis of ectopia. To assess the etiological structure of congenital hypothyroidism (CH) and demonstrate the clinical course in patients with ectopic thyroid tissue in the root of the tongue. A group of patients with CH was examined. All patients underwent neck ultrasound and radionuclide imaging. The examination was carried out against the background of the abolition of hormone replacement therapy for 14 days or before its initiation. Patients with ectopia in the root of the tongue underwent videofibrolaryngoscopy. Some patients underwent a genetic study with using genes panel of a panel of candidate genes responsible for the development of CH using the NGS method. The molecular genetic study was conducted to some patients, next-generation sequencing with the genes panel. The study included 73 patients with primary CH aged from 2 weeks to 17.3 years: 69 children were diagnosed based on the results of neonatal screening, 4 children with thyroid ectopia were first examined older than 6 years. The median age of patients at the time of the examination was 6.9 years [4.8; 10.0]. By data of ultrasound aplasia was diagnosed in 47.9% of patients, one child had hemiagenesis and ectopic thyroid tissue of various localization was detected in 26.0% of  children. In 24.7% of children thyroid tissue was found in a typical location. Scintigraphy confirmed thyroid aplasia in 65.7% of children. Examination revealed various variants of ectopically located thyroid tissue in 31 children (42.4%): thyroid ectopia in the root of the tongue in 25 children (80.6%), ectopia in the sublingual region in 5 children (16.2%), double ectopia was detected in 1 child. The median level of TSH in newborns with ectopic thyroid gland was 124 IU/ml and was significantly lower than in children with aplasia - 219 IU/ml, p&lt;0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia - 37.12 ng/ml versus 0.82 ng/ml, p&gt;&lt;0.05. Combination of two methods is the best diagnostic approach to determine the etiology of CH - ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment. &gt;&lt;0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia - 37.12 ng/ml versus 0.82 ng/ml, p&lt; 0.05. Combination of two methods is the best diagnostic approach to determine the etiology of CH - ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment.

#4

Accessory Thyroid Tissue Detected Using 131 I SPECT/CT Imaging.

Clinical nuclear medicine2022 Oct 01

Thyroid ectopia has been described as a rare congenital anomaly, characterized by the presence of a thyroid gland in locations other than the orthotopic pretracheal location. The prevalence of accessory thyroid tissue in patients undergoing postablative radioiodine therapy in a 12-month period at a tertiary hospital nuclear medicine department was assessed. Fifty-seven patients were treated between September 2020 and September 2021. Retrospective analysis identified the presence and location of all accessory thyroid tissue separate from the orthotopic pretracheal thyroid gland. Accessory thyroid tissue was present in 21.1% (12/57) of the patients. Accessory thyroid tissue was most commonly located in the lingual region.

#5

Radiological insights of ectopic thyroid in the porta hepatis: A case report and review of the literature.

World journal of clinical cases2021 May 16

Ectopic thyroid is defined as a rare developmental anomaly where thyroid tissues are atypically found in locations other than its normal anatomical position: Anterolateral to the second, third, and fourth tracheal cartilages. An intemperate descent or a migration failure of the thyroid anlage results in sub-diaphragmatic thyroid ectopia, a sparse clinical entity. This case portrays a 63-year-old female patient presenting with chronic abdominal discomfort at a local hospital whereby a computed tomography (CT) scan revealed a well-defined mass in the hepatic entrance. For further examination, the patient underwent a CT scan with contrast, magnetic resonance imaging (MRI), and CT-angiography (CTA) at our department. The CT scan showed a well-defined and high attenuated mass measuring 43 mm × 38 mm in the hepatic entrance with calcification. The CTA revealed an additional finding: Blood supply to the mass from the right hepatic artery. MRI of the upper abdomen demonstrated a mass with mixed signal intensity on T1 and T2 weighted images in the hepatic entrance. The patient underwent surgery with resection of the mass which was sent for histopathology. Ectopic thyroid at the level of porta hepatis with nodules was the definitive diagnosis since histopathological report revealed presence of thyroid tissue in the resected liver mass. This case delivers a rare insight of pre-operative radiological imaging of an ectopic thyroid located in the liver. These findings can aid in narrowing down potential differential diagnosis when managing a patient with those subsequent findings.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC44 artigos no totalmostrando 24

2026

Intratracheal ectopic thyroid: A rare cause of upper airway obstruction.

JPMA. The Journal of the Pakistan Medical Association
2024

Radioiodine Therapy: Alternative for the Treatment of Complicated Thyroid Ectopia.

Cureus
2022

[Ectopic thyroid gland: clinical features and diagnostics in children].

Problemy endokrinologii
2022

Accessory Thyroid Tissue Detected Using 131 I SPECT/CT Imaging.

Clinical nuclear medicine
2021

Radiological insights of ectopic thyroid in the porta hepatis: A case report and review of the literature.

World journal of clinical cases
2021

Dual thyroid ectopia with submental thyroid excision using Sistrunk procedure: A case report.

International journal of surgery case reports
2020

Dual thyroid ectopia: A pictorial case series and review of literature.

World journal of nuclear medicine
2020

Multiple ectopic goiter in the retroperitoneum, abdominal wall, liver, and diaphragm: A case report and review of literature.

World journal of clinical cases
2020

Multimodality imaging of ectopic focus in Graves' Disease.

Nuclear medicine review. Central &amp; Eastern Europe
2020

Dual Thyroid Ectopia and Heterotopic Thyroid Autotransplantation.

Clinical nuclear medicine
2021

Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations.

Endocrine
2019

Thyroid ectopia of the liver: An unusual diagnosis with contrast-enhanced EUS (with video).

Endoscopic ultrasound
2019

Abdominal Ectopic Thyroid Tissue: The Man From Istanbul.

International journal of surgical pathology
2018

[Case of thyroid ectopia in the hyoid region in a young Malagasy girl].

The Pan African medical journal
2018

[A rare renal tumour : Ectopic thyroid tissue in the kidney].

Der Urologe. Ausg. A
2018

Hemiagenesis of thyroid with dual thyroid ectopia: A rare case report.

The Indian journal of radiology &amp; imaging
2017

Hybrid SPECT/CT Helps Characterization and Localization of a Dual Thyroid Ectopia.

Clinical nuclear medicine
2017

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.

The Journal of clinical endocrinology and metabolism
2017

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

American journal of medical genetics. Part A
2016

Diagnostic evaluation of a case of lingual thyroid ectopia.

Radiology case reports
2018

Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10 mU/L.

Archives of disease in childhood
2016

The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism.

The Journal of clinical endocrinology and metabolism
2016

Lingual Thyroid Ectopia: Diagnostic SPECT/CT Imaging and Radioactive Iodine Treatment.

Thyroid : official journal of the American Thyroid Association
2015

Dual thyroid ectopia-role of thyroid scintigraphy and neck ultrasonography.

Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India
Ver todos os 44 no EuropePMC

Associações

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Intratracheal ectopic thyroid: A rare cause of upper airway obstruction.
    JPMA. The Journal of the Pakistan Medical Association· 2026· PMID 41830366mais citado
  2. Radioiodine Therapy: Alternative for the Treatment of Complicated Thyroid Ectopia.
    Cureus· 2024· PMID 38558620mais citado
  3. [Ectopic thyroid gland: clinical features and diagnostics in children].
    Problemy endokrinologii· 2022· PMID 35841171mais citado
  4. Accessory Thyroid Tissue Detected Using 131 I SPECT/CT Imaging.
    Clinical nuclear medicine· 2022· PMID 35485858mais citado
  5. Radiological insights of ectopic thyroid in the porta hepatis: A case report and review of the literature.
    World journal of clinical cases· 2021· PMID 34002155mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:95712(Orphanet)
  2. MONDO:0019854(MONDO)
  3. GARD:16841(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q31275345(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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Ectopia da tireoide
Compêndio · Raras BR

Ectopia da tireoide

ORPHA:95712 · MONDO:0019854
🇧🇷 Brasil SUS
Internações
420/ano
Prevalência BR
1:3500
Custo SUS
R$ 1.890/internação
Dados
DATASUS 2024
Geral
Prevalência
1-5 / 10 000
Herança
Not applicable
CID-10
E03.1 · Hipotireoidismo congênito sem bócio
CID-11
Início
Infancy, Neonatal
Prevalência
14.3 (Europe)
MedGen
UMLS
C0266283
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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