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Primary congenital hypothyroidism

MedGen UID:
1672495
•Concept ID:
C3715197
•
Disease or Syndrome
Orphanet: ORPHA226295

Definition

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

Professional guidelines

PubMed

Neonatal Thyroid Disease: Testing and Management.
Kaplowitz PB
Pediatr Clin North Am 2019 Apr;66(2):343-352. Epub 2019 Jan 28 doi: 10.1016/j.pcl.2018.12.005. PMID: 30819341
Evaluation and management of the child with hypothyroidism.
Leung AKC, Leung AAC
World J Pediatr 2019 Apr;15(2):124-134. Epub 2019 Feb 8 doi: 10.1007/s12519-019-00230-w. PMID: 30734891
Newborn screening.
Wilcken B, Wiley V
Pathology 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. PMID: 18203033

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated TSH (Primary TSH test), Congenital Hypothyroidism, 2012

American College of Medical Genetics Algorithm, Congenital Hypothyroidism (TSH), 2009

Recent clinical studies

Etiology

Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.
Chooprasertsuk N, Dejkhamron P, Unachak K, Wejaphikul K
J Pediatr Endocrinol Metab 2022 Oct 26;35(10):1250-1256. Epub 2022 Sep 14 doi: 10.1515/jpem-2022-0152. PMID: 36100363
Genetics of primary congenital hypothyroidism-a review.
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
Defects in protein folding in congenital hypothyroidism.
Targovnik HM, Scheps KG, Rivolta CM
Mol Cell Endocrinol 2020 Feb 5;501:110638. Epub 2019 Nov 18 doi: 10.1016/j.mce.2019.110638. PMID: 31751626
Prevalence of congenital hypothyroidism--current trends and future directions: workshop summary.
Olney RS, Grosse SD, Vogt RF Jr
Pediatrics 2010 May;125 Suppl 2:S31-6. doi: 10.1542/peds.2009-1975C. PMID: 20435715
Genetics of congenital hypothyroidism.
Park SM, Chatterjee VK
J Med Genet 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158. PMID: 15863666Free PMC Article

Diagnosis

Incidence of primary congenital hypothyroidism over 24 years in Finland.
Danner E, Niuro L, Huopio H, Niinikoski H, Viikari L, Kero J, Jääskeläinen J
Pediatr Res 2023 Feb;93(3):649-653. Epub 2022 Jun 3 doi: 10.1038/s41390-022-02118-4. PMID: 35661828Free PMC Article
Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.
Chooprasertsuk N, Dejkhamron P, Unachak K, Wejaphikul K
J Pediatr Endocrinol Metab 2022 Oct 26;35(10):1250-1256. Epub 2022 Sep 14 doi: 10.1515/jpem-2022-0152. PMID: 36100363
Genetics of primary congenital hypothyroidism-a review.
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
Neonatal Thyroid Disease: Testing and Management.
Kaplowitz PB
Pediatr Clin North Am 2019 Apr;66(2):343-352. Epub 2019 Jan 28 doi: 10.1016/j.pcl.2018.12.005. PMID: 30819341
Newborn screening.
Wilcken B, Wiley V
Pathology 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. PMID: 18203033

Therapy

Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience.
Lipska E, Lecka-Ambroziak A, Witkowski D, Szamotulska K, Mierzejewska E, Ołtarzewski M
Front Endocrinol (Lausanne) 2022;13:895507. Epub 2022 Jun 27 doi: 10.3389/fendo.2022.895507. PMID: 35832434Free PMC Article
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings.
Naafs JC, Marchal JP, Fliers E, Verkerk PH, Luijten MAJ, Boelen A, van Trotsenburg ASP, Zwaveling-Soonawala N
J Clin Endocrinol Metab 2021 Mar 8;106(3):e1231-e1239. doi: 10.1210/clinem/dgaa901. PMID: 33274354Free PMC Article
The natural history of congenital hypothyroidism with delayed TSH elevation in neonatal intensive care newborns.
Zung A, Radi A, Almashanu S
Clin Endocrinol (Oxf) 2020 May;92(5):443-449. Epub 2020 Feb 26 doi: 10.1111/cen.14173. PMID: 32043280
Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism.
Maciel LM, Kimura ET, Nogueira CR, Mazeto GM, Magalhães PK, Nascimento ML, Nesi-França S, Vieira SE; Brazilian Society of Endocrinology and Metabolism
Arq Bras Endocrinol Metabol 2013 Apr;57(3):184-92. doi: 10.1590/s0004-27302013000300004. PMID: 23681264
Newborn screening.
Wilcken B, Wiley V
Pathology 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. PMID: 18203033

Prognosis

Incidence of primary congenital hypothyroidism over 24 years in Finland.
Danner E, Niuro L, Huopio H, Niinikoski H, Viikari L, Kero J, Jääskeläinen J
Pediatr Res 2023 Feb;93(3):649-653. Epub 2022 Jun 3 doi: 10.1038/s41390-022-02118-4. PMID: 35661828Free PMC Article
Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.
Chooprasertsuk N, Dejkhamron P, Unachak K, Wejaphikul K
J Pediatr Endocrinol Metab 2022 Oct 26;35(10):1250-1256. Epub 2022 Sep 14 doi: 10.1515/jpem-2022-0152. PMID: 36100363
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings.
Naafs JC, Marchal JP, Fliers E, Verkerk PH, Luijten MAJ, Boelen A, van Trotsenburg ASP, Zwaveling-Soonawala N
J Clin Endocrinol Metab 2021 Mar 8;106(3):e1231-e1239. doi: 10.1210/clinem/dgaa901. PMID: 33274354Free PMC Article
Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations.
Tuli G, Munarin J, Tessaris D, Matarazzo P, Einaudi S, de Sanctis L
Endocrine 2021 Jan;71(1):122-129. Epub 2020 Jun 7 doi: 10.1007/s12020-020-02370-w. PMID: 32507964
Prevalence of congenital hypothyroidism--current trends and future directions: workshop summary.
Olney RS, Grosse SD, Vogt RF Jr
Pediatrics 2010 May;125 Suppl 2:S31-6. doi: 10.1542/peds.2009-1975C. PMID: 20435715

Clinical prediction guides

Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.
Chooprasertsuk N, Dejkhamron P, Unachak K, Wejaphikul K
J Pediatr Endocrinol Metab 2022 Oct 26;35(10):1250-1256. Epub 2022 Sep 14 doi: 10.1515/jpem-2022-0152. PMID: 36100363
Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience.
Lipska E, Lecka-Ambroziak A, Witkowski D, Szamotulska K, Mierzejewska E, Ołtarzewski M
Front Endocrinol (Lausanne) 2022;13:895507. Epub 2022 Jun 27 doi: 10.3389/fendo.2022.895507. PMID: 35832434Free PMC Article
Predictors of transient congenital primary hypothyroidism: data from the German registry for congenital hypothyroidism (AQUAPE "HypoDok").
Matejek N, Tittel SR, Haberland H, Rohrer T, Busemann EM, Jorch N, Schwab KO, Wölfle J, Holl RW, Bettendorf M
Eur J Pediatr 2021 Aug;180(8):2401-2408. Epub 2021 Mar 25 doi: 10.1007/s00431-021-04031-0. PMID: 33768331Free PMC Article
Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations.
Tuli G, Munarin J, Tessaris D, Matarazzo P, Einaudi S, de Sanctis L
Endocrine 2021 Jan;71(1):122-129. Epub 2020 Jun 7 doi: 10.1007/s12020-020-02370-w. PMID: 32507964
Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds.
Knowles RL, Oerton J, Cheetham T, Butler G, Cavanagh C, Tetlow L, Dezateux C
J Clin Endocrinol Metab 2018 Oct 1;103(10):3720-3728. doi: 10.1210/jc.2018-00658. PMID: 30113641Free PMC Article

Recent systematic reviews

Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.
Da DZ, Wang Y, Wang M, Long Z, Wang Q, Liu J
Inquiry 2021 Jan-Dec;58:469580211067943. doi: 10.1177/00469580211067943. PMID: 34919466Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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      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.

    Curated

    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated TSH (Primary TSH test), Congenital Hypothyroidism, 2012
    • ACMG Algorithm, 2009
      American College of Medical Genetics Algorithm, Congenital Hypothyroidism (TSH), 2009

    Consumer resources

    Reviews

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    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed

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