U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Thyroid hemiagenesis

MedGen UID:
868785
•Concept ID:
C4023190
•
Disease or Syndrome
Synonyms: Congenital absence of half of thyroid; Congenital hemiagenesis of thyroid; thyroid hemiagenesis
SNOMED CT: Congenital absence of half of thyroid (715734006); Congenital hemiagenesis of thyroid (715734006); Thyroid hemiagenesis (715734006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
HPO: HP:0011780
Monarch Initiative: MONDO:0019860
Orphanet: ORPHA95719

Definition

Absence of a lobe of the thyroid gland related to a failure of its embryologic development. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Thyroid hemiagenesis

Professional guidelines

PubMed

Pathogenesis, diagnosis and management of thyroid nodules in children.
Niedziela M
Endocr Relat Cancer 2006 Jun;13(2):427-53. doi: 10.1677/erc.1.00882. PMID: 16728572
Clinical utility of a simple physical technique in thyroid scintigraphy.
Al-Eid MA, Al-Attar RA, Al Hindawi AY
Eur J Nucl Med 1987;13(9):443-5. doi: 10.1007/BF00281857. PMID: 3440469

Recent clinical studies

Etiology

Computed tomography findings of thyroid hemiagenesis: differentiation from hemithyroidectomy.
Yoon DY, Kim ES, Lee CW, Seo YL, Lee Y, Kwon MJ, Lee SM
BMC Med Imaging 2023 Jan 10;23(1):8. doi: 10.1186/s12880-023-00961-3. PMID: 36627559Free PMC Article
Thyroid hemiagenesis is combined with a variety of thyroid disorders.
Schneider C, Dietlein M, Faust M, Drzezga A, Schmidt M
Nuklearmedizin 2019 Jun;58(3):265-271. Epub 2019 Apr 11 doi: 10.1055/a-0830-4425. PMID: 30974469
Thyroid Hemiagenesis: Incidence, Clinical Significance, and Genetic Background.
Szczepanek-Parulska E, Zybek-Kocik A, Wartofsky L, Ruchala M
J Clin Endocrinol Metab 2017 Sep 1;102(9):3124-3137. doi: 10.1210/jc.2017-00784. PMID: 28666345
Prevalence and Characterization of Thyroid Hemiagenesis in Japan: The Fukushima Health Management Survey.
Suzuki S, Midorikawa S, Matsuzuka T, Fukushima T, Ito Y, Shimura H, Takahashi H, Ohira T, Ohtsuru A, Abe M, Suzuki S, Yamashita S
Thyroid 2017 Aug;27(8):1011-1016. doi: 10.1089/thy.2016.0662. PMID: 28657504Free PMC Article
Thyroid Hemiagenesis from Childhood to Adulthood: Review of Literature and Personal Experience.
De Sanctis V, Soliman AT, Di Maio S, Elsedfy H, Soliman NA, Elalaily R
Pediatr Endocrinol Rev 2016 Mar;13(3):612-9. PMID: 27116848

Diagnosis

Computed tomography findings of thyroid hemiagenesis: differentiation from hemithyroidectomy.
Yoon DY, Kim ES, Lee CW, Seo YL, Lee Y, Kwon MJ, Lee SM
BMC Med Imaging 2023 Jan 10;23(1):8. doi: 10.1186/s12880-023-00961-3. PMID: 36627559Free PMC Article
Thyroid hemiagenesis is combined with a variety of thyroid disorders.
Schneider C, Dietlein M, Faust M, Drzezga A, Schmidt M
Nuklearmedizin 2019 Jun;58(3):265-271. Epub 2019 Apr 11 doi: 10.1055/a-0830-4425. PMID: 30974469
Prevalence and Characterization of Thyroid Hemiagenesis in Japan: The Fukushima Health Management Survey.
Suzuki S, Midorikawa S, Matsuzuka T, Fukushima T, Ito Y, Shimura H, Takahashi H, Ohira T, Ohtsuru A, Abe M, Suzuki S, Yamashita S
Thyroid 2017 Aug;27(8):1011-1016. doi: 10.1089/thy.2016.0662. PMID: 28657504Free PMC Article
Thyroid Hemiagenesis from Childhood to Adulthood: Review of Literature and Personal Experience.
De Sanctis V, Soliman AT, Di Maio S, Elsedfy H, Soliman NA, Elalaily R
Pediatr Endocrinol Rev 2016 Mar;13(3):612-9. PMID: 27116848
Pathogenesis, diagnosis and management of thyroid nodules in children.
Niedziela M
Endocr Relat Cancer 2006 Jun;13(2):427-53. doi: 10.1677/erc.1.00882. PMID: 16728572

Therapy

Congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism.
Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):353-363. Epub 2023 Feb 20 doi: 10.1515/jpem-2022-0101. PMID: 36798001
Thyroid hemiagenesis and Hashimoto's thyroditis-diagnostic and treatment pitfalls.
Wang M, Hou L, Chen M, Ren L, Tang P, Zhang Y, Jiang J
World J Surg Oncol 2017 Oct 6;15(1):182. doi: 10.1186/s12957-017-1250-0. PMID: 28985747Free PMC Article
Thyroid Hemiagenesis: Incidence, Clinical Significance, and Genetic Background.
Szczepanek-Parulska E, Zybek-Kocik A, Wartofsky L, Ruchala M
J Clin Endocrinol Metab 2017 Sep 1;102(9):3124-3137. doi: 10.1210/jc.2017-00784. PMID: 28666345
Increased risk of thyroid pathology in patients with thyroid hemiagenesis: results of a large cohort case-control study.
Ruchala M, Szczepanek E, Szaflarski W, Moczko J, Czarnywojtek A, Pietz L, Nowicki M, Niedziela M, Zabel M, Köhrle J, Sowinski J
Eur J Endocrinol 2010 Jan;162(1):153-60. Epub 2009 Oct 21 doi: 10.1530/EJE-09-0590. PMID: 19846597
Congenital thyroid hemiagenesis.
McHenry CR, Walfish PG, Rosen IB, Lawrence AM, Paloyan E
Am Surg 1995 Jul;61(7):634-8; discussion 638-9. PMID: 7793746

Prognosis

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.
Szczepanek-Parulska E, Budny B, Borowczyk M, Zhukov I, Szutkowski K, Zawadzka K, Tahir R, Minczykowski A, Niedziela M, Ruchała M
Int J Mol Sci 2022 Mar 21;23(6) doi: 10.3390/ijms23063414. PMID: 35328834Free PMC Article
Thyroid hemiagenesis is combined with a variety of thyroid disorders.
Schneider C, Dietlein M, Faust M, Drzezga A, Schmidt M
Nuklearmedizin 2019 Jun;58(3):265-271. Epub 2019 Apr 11 doi: 10.1055/a-0830-4425. PMID: 30974469
Thyroid Hemiagenesis: Incidence, Clinical Significance, and Genetic Background.
Szczepanek-Parulska E, Zybek-Kocik A, Wartofsky L, Ruchala M
J Clin Endocrinol Metab 2017 Sep 1;102(9):3124-3137. doi: 10.1210/jc.2017-00784. PMID: 28666345
Thyroid hemiagenesis associated with medullary or papillary carcinoma: report of cases.
Wang J, Gao L, Song C
Head Neck 2014 Nov;36(11):E106-11. Epub 2014 Feb 26 doi: 10.1002/hed.23501. PMID: 24115043
Thyroid hemiagenesis: a case series and review of the literature.
Wu YH, Wein RO, Carter B
Am J Otolaryngol 2012 May-Jun;33(3):299-302. Epub 2011 Sep 16 doi: 10.1016/j.amjoto.2011.08.007. PMID: 21925764

Clinical prediction guides

Computed tomography findings of thyroid hemiagenesis: differentiation from hemithyroidectomy.
Yoon DY, Kim ES, Lee CW, Seo YL, Lee Y, Kwon MJ, Lee SM
BMC Med Imaging 2023 Jan 10;23(1):8. doi: 10.1186/s12880-023-00961-3. PMID: 36627559Free PMC Article
NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.
Szczepanek-Parulska E, Budny B, Borowczyk M, Zhukov I, Szutkowski K, Zawadzka K, Tahir R, Minczykowski A, Niedziela M, Ruchała M
Int J Mol Sci 2022 Mar 21;23(6) doi: 10.3390/ijms23063414. PMID: 35328834Free PMC Article
Thyroid hemiagenesis is combined with a variety of thyroid disorders.
Schneider C, Dietlein M, Faust M, Drzezga A, Schmidt M
Nuklearmedizin 2019 Jun;58(3):265-271. Epub 2019 Apr 11 doi: 10.1055/a-0830-4425. PMID: 30974469
Thyroid Hemiagenesis: Incidence, Clinical Significance, and Genetic Background.
Szczepanek-Parulska E, Zybek-Kocik A, Wartofsky L, Ruchala M
J Clin Endocrinol Metab 2017 Sep 1;102(9):3124-3137. doi: 10.1210/jc.2017-00784. PMID: 28666345
Thyroid hemiagenesis: report of a case and review of the literature.
Peña S, Loehn B, Robertson H, Walvekar RR
Laryngoscope 2010;120 Suppl 4:S174. doi: 10.1002/lary.21638. PMID: 21225772

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.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...