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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]

Professional guidelines

PubMed

Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP
Front Endocrinol (Lausanne) 2021;12:686317. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.686317. PMID: 34566885Free 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: 33272083Free 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

Recent clinical studies

Etiology

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: 33272083Free PMC Article
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

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: 31577260Free 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

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: 35370986Free 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: 34211436Free 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

Prognosis

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: 35588090Free 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: 34211436Free 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

Clinical prediction guides

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: 35588090Free 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: 33272083Free PMC Article
Hirsutism in Women.
Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105
Pendred syndrome.
Wémeau JL, Kopp P
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):213-224. Epub 2017 May 10 doi: 10.1016/j.beem.2017.04.011. PMID: 28648509
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

Recent systematic reviews

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: 37205692Free PMC Article
Global prevalence of congenital hypothyroidism among neonates from 1969 to 2020: a systematic review and meta-analysis.
Liu L, He W, Zhu J, Deng K, Tan H, Xiang L, Yuan X, Li Q, Huang M, Guo Y, Yao Y, Li X
Eur J Pediatr 2023 Jul;182(7):2957-2965. Epub 2023 Apr 18 doi: 10.1007/s00431-023-04932-2. PMID: 37071175
Antithyroid drug therapy in pregnancy and risk of congenital anomalies: Systematic review and meta-analysis.
Agrawal M, Lewis S, Premawardhana L, Dayan CM, Taylor PN, Okosieme OE
Clin Endocrinol (Oxf) 2022 Jun;96(6):857-868. Epub 2021 Nov 29 doi: 10.1111/cen.14646. PMID: 34845757
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
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

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