U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ectopic thyroid

MedGen UID:
78591
Concept ID:
C0266283
Congenital Abnormality
Synonyms: Ectopic Thyroid; Ectopic Thyroids; Thyroid, Ectopic; Thyroids, Ectopic
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0100028
Monarch Initiative: MONDO:0019854
OMIM®: 218700
Orphanet: ORPHA95712

Definition

Mislocalised thyroid gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEctopic thyroid

Conditions with this feature

Hypothyroidism, congenital, nongoitrous, 2
MedGen UID:
358389
Concept ID:
C1869118
Congenital Abnormality
Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.
Hypothyroidism, congenital, nongoitrous, 5
MedGen UID:
388687
Concept ID:
C2673630
Disease or Syndrome
Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.

Professional guidelines

PubMed

Schenke SA, Görges R, Seifert P, Zimny M, Kreissl MC
Q J Nucl Med Mol Imaging 2021 Jun;65(2):102-112. Epub 2021 Jan 26 doi: 10.23736/S1824-4785.21.03333-1. PMID: 33494588
Barbieri A, Prasad ML, Gilani SM
Ann Diagn Pathol 2020 Oct;48:151584. Epub 2020 Aug 15 doi: 10.1016/j.anndiagpath.2020.151584. PMID: 32871503
Giovanella L, Avram AM, Iakovou I, Kwak J, Lawson SA, Lulaj E, Luster M, Piccardo A, Schmidt M, Tulchinsky M, Verburg FA, Wolin E
Eur J Nucl Med Mol Imaging 2019 Nov;46(12):2514-2525. Epub 2019 Aug 7 doi: 10.1007/s00259-019-04472-8. PMID: 31392371

Recent clinical studies

Etiology

Vuorisalo A, Tommola E, Eloranta P, Vanhelo T, Paavonen T, Kholová I
APMIS 2023 May;131(5):217-225. Epub 2023 Mar 3 doi: 10.1111/apm.13303. PMID: 36809572
Anikin V, Welman K, Asadi N, Dalal P, Reshetov I, Beddow E
Khirurgiia (Mosk) 2021;(12):20-26. doi: 10.17116/hirurgia202112120. PMID: 34941205
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
Pupić-Bakrač J, Pupić-Bakrač A, Novaković J, Skitarelić N
J Craniofac Surg 2021 Jun 1;32(4):1417-1420. doi: 10.1097/SCS.0000000000007122. PMID: 33170821
Desai MP
Indian J Pediatr 1997 Jan-Feb;64(1):11-20. doi: 10.1007/BF02795771. PMID: 10771808

Diagnosis

Vazquez Salas S, Pedro K, Balram A, Syed S, Kotaka K, Kadivar A, Eke BO, McFarland M, Sung M, Behera N, Dubner BG, Maleki Z
Acta Cytol 2022;66(5):359-370. Epub 2022 Jun 17 doi: 10.1159/000525144. PMID: 35717936
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
Pupić-Bakrač J, Pupić-Bakrač A, Novaković J, Skitarelić N
J Craniofac Surg 2021 Jun 1;32(4):1417-1420. doi: 10.1097/SCS.0000000000007122. PMID: 33170821
Kocaman G, Yenigün BM, Çoruh AG, Koçak EM, Memmedyarow İ, Tural M, Sak SD, Yazıcıoğlu L, Akal RM
Gen Thorac Cardiovasc Surg 2020 Sep;68(9):1051-1054. Epub 2019 Oct 3 doi: 10.1007/s11748-019-01211-6. PMID: 31583517
Giovanella L, Avram AM, Iakovou I, Kwak J, Lawson SA, Lulaj E, Luster M, Piccardo A, Schmidt M, Tulchinsky M, Verburg FA, Wolin E
Eur J Nucl Med Mol Imaging 2019 Nov;46(12):2514-2525. Epub 2019 Aug 7 doi: 10.1007/s00259-019-04472-8. PMID: 31392371

Therapy

Sturniolo G, Violi MA, Galletti B, Baldari S, Campennì A, Vermiglio F, Moleti M
Endocrine 2016 Jan;51(1):189-98. Epub 2015 May 19 doi: 10.1007/s12020-015-0593-y. PMID: 25987346
Ibrahim NA, Fadeyibi IO
Hormones (Athens) 2011 Oct-Dec;10(4):261-9. doi: 10.14310/horm.2002.1317. PMID: 22281882
Gkountouvas A, Nikas M, Chatjimarkou F, Thomas D, Georgiadis P, Kaldrimidis P
J BUON 2010 Oct-Dec;15(4):674-8. PMID: 21229628
Dickerman Z, De Vries L
Clin Endocrinol (Oxf) 1997 Dec;47(6):649-54. doi: 10.1046/j.1365-2265.1997.3181148.x. PMID: 9497870
LaFranchi S
Compr Ther 1987 Oct;13(10):20-30. PMID: 3315407

Prognosis

Jurczak P, Romaszko-Wojtowicz A, Doboszyńska A
Am J Case Rep 2024 Jun 15;25:e943798. doi: 10.12659/AJCR.943798. PMID: 38877695Free PMC Article
Anikin V, Welman K, Asadi N, Dalal P, Reshetov I, Beddow E
Khirurgiia (Mosk) 2021;(12):20-26. doi: 10.17116/hirurgia202112120. PMID: 34941205
Goldis M, Waldman L, Marginean O, Rosenberg HK, Rapaport R
Endocrinol Metab Clin North Am 2016 Jun;45(2):255-66. doi: 10.1016/j.ecl.2016.02.005. PMID: 27241963
Desai MP
Indian J Pediatr 1997 Jan-Feb;64(1):11-20. doi: 10.1007/BF02795771. PMID: 10771808
LaFranchi S
Compr Ther 1987 Oct;13(10):20-30. PMID: 3315407

Clinical prediction guides

Anikin V, Welman K, Asadi N, Dalal P, Reshetov I, Beddow E
Khirurgiia (Mosk) 2021;(12):20-26. doi: 10.17116/hirurgia202112120. PMID: 34941205
Kizys MML, Louzada RA, Mitne-Neto M, Jara JR, Furuzawa GK, de Carvalho DP, Dias-da-Silva MR, Nesi-França S, Dupuy C, Maciel RMB
J Clin Endocrinol Metab 2017 Nov 1;102(11):4060-4071. doi: 10.1210/jc.2017-00832. PMID: 28666341
Cheng H, Yang L, Xiong J, Peng J, Ruan Q
Diagn Pathol 2015 Jun 6;10:61. doi: 10.1186/s13000-015-0299-8. PMID: 26047938Free PMC Article
Peña S, Loehn B, Robertson H, Walvekar RR
Laryngoscope 2010;120 Suppl 4:S174. doi: 10.1002/lary.21638. PMID: 21225772
Guarisco JL
Ear Nose Throat J 1991 Feb;70(2):75-82. PMID: 2044478

Recent systematic reviews

Ma H, Brooks JA, Iwata AJ, Li P, Zhong Q, Fang J, Randolph GW
Laryngoscope 2021 Sep;131(9):E2609-E2617. Epub 2021 Jun 29 doi: 10.1002/lary.29678. PMID: 34184770Free PMC Article
Vincent A, Jategaonkar A, Kadakia S, Ducic Y
Am J Otolaryngol 2019 May-Jun;40(3):435-439. Epub 2019 Feb 18 doi: 10.1016/j.amjoto.2019.02.013. PMID: 30833008

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...