U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital hypothyroidism due to developmental anomaly

MedGen UID:
1842280
Concept ID:
C5680255
Disease or Syndrome
Synonym: Primary congenital hypothyroidism due to developmental anomaly
 
Orphanet: ORPHA95711

Definition

Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital hypothyroidism due to developmental anomaly

Professional guidelines

PubMed

Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD
Eur J Endocrinol 2018 Jun;178(6):623-633. Epub 2018 Apr 12 doi: 10.1530/EJE-17-1017. PMID: 29650690Free PMC Article
Rivkees SA
J Pediatr Endocrinol Metab 2007 Apr;20(4):457-8. PMID: 17550207

Recent clinical studies

Etiology

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
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC
Hum Mutat 2018 Sep;39(9):1226-1237. Epub 2018 Jun 25 doi: 10.1002/humu.23563. PMID: 29897170Free PMC Article
Amr NH
Acta Biomed 2018 Mar 27;89(1):132-139. doi: 10.23750/abm.v89i1.7120. PMID: 29633736Free PMC Article
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Meyerhoff EL
Laryngoscope 1976 Apr;86(4):483-9. doi: 10.1288/00005537-197604000-00002. PMID: 772338

Diagnosis

Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC
Hum Mutat 2018 Sep;39(9):1226-1237. Epub 2018 Jun 25 doi: 10.1002/humu.23563. PMID: 29897170Free PMC Article
Muir AB, Rose SR
Clin Perinatol 2018 Mar;45(1):xvii-xviii. Epub 2017 Dec 1 doi: 10.1016/j.clp.2017.11.004. PMID: 29406016
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Roizen NJ
Ment Retard Dev Disabil Res Rev 2003;9(2):120-7. doi: 10.1002/mrdd.10068. PMID: 12784230

Therapy

Garcia-Guimaraes M, Masotti M, Sanz-Ruiz R, Macaya F, Roura G, Nogales JM, Tizón-Marcos H, Velázquez-Martin M, Veiga G, Flores-Ríos X, Abdul-Jawad Altisent O, Jimenez-Kockar M, Camacho-Freire S, Moreu J, Ojeda S, Santos-Martinez S, Sanz-Garcia A, Del Val D, Bastante T, Alfonso F; Spanish Registry on SCAD investigators
Heart 2022 Sep 12;108(19):1530-1538. doi: 10.1136/heartjnl-2022-320830. PMID: 35410894
Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
Muir AB, Rose SR
Clin Perinatol 2018 Mar;45(1):xvii-xviii. Epub 2017 Dec 1 doi: 10.1016/j.clp.2017.11.004. PMID: 29406016
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Hahn HB
Postgrad Med 1975 Jun;57(7):71-4. doi: 10.1080/00325481.1975.11714074. PMID: 48245

Prognosis

Garcia-Guimaraes M, Masotti M, Sanz-Ruiz R, Macaya F, Roura G, Nogales JM, Tizón-Marcos H, Velázquez-Martin M, Veiga G, Flores-Ríos X, Abdul-Jawad Altisent O, Jimenez-Kockar M, Camacho-Freire S, Moreu J, Ojeda S, Santos-Martinez S, Sanz-Garcia A, Del Val D, Bastante T, Alfonso F; Spanish Registry on SCAD investigators
Heart 2022 Sep 12;108(19):1530-1538. doi: 10.1136/heartjnl-2022-320830. PMID: 35410894
Wang F, Zang Y, Li M, Liu W, Wang Y, Yu X, Li H, Wang F, Liu S
Front Endocrinol (Lausanne) 2020;11:237. Epub 2020 Apr 21 doi: 10.3389/fendo.2020.00237. PMID: 32425884Free PMC Article
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Kulkarni ML, Shetty SK, Kallambella KS, Kulkarni PM
Indian J Pediatr 2004 Dec;71(12):1127-9. PMID: 15630323

Clinical prediction guides

Garcia-Guimaraes M, Masotti M, Sanz-Ruiz R, Macaya F, Roura G, Nogales JM, Tizón-Marcos H, Velázquez-Martin M, Veiga G, Flores-Ríos X, Abdul-Jawad Altisent O, Jimenez-Kockar M, Camacho-Freire S, Moreu J, Ojeda S, Santos-Martinez S, Sanz-Garcia A, Del Val D, Bastante T, Alfonso F; Spanish Registry on SCAD investigators
Heart 2022 Sep 12;108(19):1530-1538. doi: 10.1136/heartjnl-2022-320830. PMID: 35410894
Salas-Lucia F, França MM, Amrhein JA, Weir JE, Dumitrescu AM, Refetoff S
Thyroid 2022 Mar;32(3):336-339. doi: 10.1089/thy.2021.0523. PMID: 34969265Free PMC Article
Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD
Eur J Endocrinol 2018 Jun;178(6):623-633. Epub 2018 Apr 12 doi: 10.1530/EJE-17-1017. PMID: 29650690Free PMC Article
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Meyerhoff EL
Laryngoscope 1976 Apr;86(4):483-9. doi: 10.1288/00005537-197604000-00002. PMID: 772338

Recent systematic reviews

Carmona-Hidalgo B, Herrera-Ramos E, Rodríguez-López R, Nou-Fontanet L, C Moreno J, Blasco-Amaro JA, Léger J, Ortigoza-Escobar JD; NKX2-1-Related Disorders Guideline Working Group
PLoS One 2024;19(10):e0309064. Epub 2024 Oct 28 doi: 10.1371/journal.pone.0309064. PMID: 39466809Free PMC Article
Zhang K, Fried J, Nguyen SA, Meyer TA, White DR
Ear Hear 2022 Jan/Feb;43(1):23-31. doi: 10.1097/AUD.0000000000001082. PMID: 34282088
Haghighi MM, Wright CY, Ayer J, Urban MF, Pham MD, Boeckmann M, Areal A, Wernecke B, Swift CP, Robinson M, Hetem RS, Chersich MF, Climate Change And Heat-Health Study Group
Int J Environ Res Public Health 2021 May 5;18(9) doi: 10.3390/ijerph18094910. PMID: 34063033Free PMC Article
Danis DO 3rd, Bodamer O, Levi JR
Int J Pediatr Otorhinolaryngol 2021 Apr;143:110649. Epub 2021 Feb 12 doi: 10.1016/j.ijporl.2021.110649. PMID: 33640723
Nettore IC, Cacace V, De Fusco C, Colao A, Macchia PE
J Endocrinol Invest 2013 Sep;36(8):654-64. Epub 2013 May 22 doi: 10.3275/8973. PMID: 23698639

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...