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Congenital Thyroid Gland Disorder

MedGen UID:: 208865
•Concept ID:: C0852066
•: Congenital Abnormality

Synonym:

Congenital Thyroid Disorder

Definition

A thyroid gland disorder present at birth. It includes thyroid gland aplasia and thyroid gland hypoplasia, both result in hypothyroidism. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital Thyroid Gland Disorder

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of endocrine system
        Non-Neoplastic Endocrine Disorder
        Congenital Thyroid Gland Disorder
        Congenital hypothyroidism
        Congenital hypothyroidism with ectopic thyroid
        Congenital iodine deficiency syndrome
        Deficiency of iodide peroxidase
        Dual Oxidase 2 Deficiency
        Genetic transient congenital hypothyroidism
        Hypothyroidism due to iodide transport defect
        Hypothyroidism due to TSH receptor mutations
        Hypothyroidism, congenital, nongoitrous, 2
        Iodotyrosine deiodination defect
        Isolated thyroid-stimulating hormone deficiency
        Pendred syndrome
        Thyroglobulin Deficiency
        Defective Thyroglobulin Synthesis
        Defective Thyroglobulin Transport
        Thyroid dyshormonogenesis
        Thyroid dyshormonogenesis 6
        Congenital thyroid hypoplasia
        Ectopic thyroid
        Accessory ectopic thyroid tissue
        Lingual thyroid
        Lingual goiter
        Thyroid agenesis

Professional guidelines

PubMed

Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.

Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986 Free PMC Article

Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.

van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083 Free PMC Article

Pediatric Hypothyroidism: Diagnosis and Treatment.

Wassner AJ
Paediatr Drugs 2017 Aug;19(4):291-301. doi: 10.1007/s40272-017-0238-0. PMID: 28534114

See all (701)

Recent clinical studies

Etiology

Thyroid Function During the Fetal and Neonatal Periods.

Eng L, Lam L
Neoreviews 2020 Jan;21(1):e30-e36. doi: 10.1542/neo.21-1-e30. PMID: 31894080

Hirsutism in Women.

Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105

Congenital Hypothyroidism.

Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999

Thyroid Disorders in Children and Adolescents: A Review.

Hanley P, Lord K, Bauer AJ
JAMA Pediatr 2016 Oct 1;170(10):1008-1019. doi: 10.1001/jamapediatrics.2016.0486. PMID: 27571216

See all (1709)

Diagnosis

Thyroid Function During the Fetal and Neonatal Periods.

Eng L, Lam L
Neoreviews 2020 Jan;21(1):e30-e36. doi: 10.1542/neo.21-1-e30. PMID: 31894080

Hypothyroidism and hyperthyroidism.

Guerri G, Bressan S, Sartori M, Costantini A, Benedetti S, Agostini F, Tezzele S, Cecchin S, Scaramuzza A, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):83-86. doi: 10.23750/abm.v90i10-S.8765. PMID: 31577260 Free PMC Article

Congenital Hypothyroidism.

Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999

Pediatric Hypothyroidism: Diagnosis and Treatment.

Wassner AJ
Paediatr Drugs 2017 Aug;19(4):291-301. doi: 10.1007/s40272-017-0238-0. PMID: 28534114

Thyroid Disorders in Children and Adolescents: A Review.

Hanley P, Lord K, Bauer AJ
JAMA Pediatr 2016 Oct 1;170(10):1008-1019. doi: 10.1001/jamapediatrics.2016.0486. PMID: 27571216

See all (2658)

Therapy

Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.

Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986 Free PMC Article

Thyroid Function in Preterm/Low Birth Weight Infants: Impact on Diagnosis and Management of Thyroid Dysfunction.

LaFranchi SH
Front Endocrinol (Lausanne) 2021;12:666207. Epub 2021 Jun 15 doi: 10.3389/fendo.2021.666207. PMID: 34211436 Free PMC Article

Hirsutism in Women.

Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105

Neonatal Thyrotoxicosis.

Samuels SL, Namoc SM, Bauer AJ
Clin Perinatol 2018 Mar;45(1):31-40. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.001. PMID: 29406005

Congenital Hypothyroidism.

Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999

See all (1330)

Prognosis

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.

Long W, Guo F, Yao R, Wang Y, Wang H, Yu B, Xue P
Front Endocrinol (Lausanne) 2021;12:705773. Epub 2021 Sep 3 doi: 10.3389/fendo.2021.705773. PMID: 34539567 Free PMC Article

Thyroid Function in Preterm/Low Birth Weight Infants: Impact on Diagnosis and Management of Thyroid Dysfunction.

LaFranchi SH
Front Endocrinol (Lausanne) 2021;12:666207. Epub 2021 Jun 15 doi: 10.3389/fendo.2021.666207. PMID: 34211436 Free PMC Article

Congenital Hypothyroidism.

Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999

Disorders of thyroid morphogenesis.

Abu-Khudir R, Larrivée-Vanier S, Wasserman JD, Deladoëy J
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):143-159. Epub 2017 Apr 21 doi: 10.1016/j.beem.2017.04.008. PMID: 28648504

Pediatric Hypothyroidism: Diagnosis and Treatment.

Wassner AJ
Paediatr Drugs 2017 Aug;19(4):291-301. doi: 10.1007/s40272-017-0238-0. PMID: 28534114

See all (1026)

Clinical prediction guides

History of the Thyroid.

Connelly KJ, Park JJ, LaFranchi SH
Horm Res Paediatr 2022;95(6):546-556. Epub 2022 Nov 29 doi: 10.1159/000526621. PMID: 36446327

MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.

Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090 Free PMC Article

Hirsutism in Women.

Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105

Hypothyroidism.

Diaz A, Lipman Diaz EG
Pediatr Rev 2014 Aug;35(8):336-47; quiz 348-9. doi: 10.1542/pir.35-8-336. PMID: 25086165

See all (998)

Recent systematic reviews

Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.

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: 39466809 Free PMC Article

Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.

Carmona-Hidalgo B, Martín-Gómez C, Herrera-Ramos E, Rodríguez-López R, Fontanet LN, Moreno JC, Blasco-Amaro JA, Léger J, Dario-Ortigoza-Escobar J; NKX2-1-Related Disorders Guideline Working Group
PLoS One 2024;19(7):e0303880. Epub 2024 Jul 11 doi: 10.1371/journal.pone.0303880. PMID: 38990976 Free PMC Article

Comparison of the safety between propylthiouracil and methimazole with hyperthyroidism in pregnancy: A systematic review and meta-analysis.

Liu Y, Li Q, Xu Y, Chen Y, Men Y
PLoS One 2023;18(5):e0286097. Epub 2023 May 19 doi: 10.1371/journal.pone.0286097. PMID: 37205692 Free PMC Article

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: 34919466 Free PMC Article

A systematic review of genetic studies of thyroid disorders in Taiwan.

Huang CJ, Jap TS
J Chin Med Assoc 2015 Mar;78(3):145-53. Epub 2014 Nov 11 doi: 10.1016/j.jcma.2014.09.010. PMID: 25455162

See all (30)

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Congenital Thyroid Gland Disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

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