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Congenital goiter

MedGen UID:
91147
•Concept ID:
C0349476
•
Disease or Syndrome
Synonyms: Congenital goitre; Neonatal goiter
SNOMED CT: Neonatal goiter (276565004)
 
HPO: HP:0008251

Definition

An enlargement of the thyroid gland with congenital onset. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital goiter

Conditions with this feature

Fetal iodine deficiency disorder
MedGen UID:
83336
•Concept ID:
C0342200
•
Disease or Syndrome
Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency.
See: Condition Record
Fetal iodine deficiency disorder

Professional guidelines

PubMed

Letter: On the treatment of congenital goiter.
von Petrykowski W
J Pediatr 1976 Mar;88(3):526-8. doi: 10.1016/s0022-3476(76)80296-x. PMID: 1245976

Recent clinical studies

Etiology

Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.
Santos-Silva R, Rosário M, Grangeia A, Costa C, Castro-Correia C, Alonso I, Leão M, Fontoura M
J Pediatr Endocrinol Metab 2019 Nov 26;32(11):1265-1273. doi: 10.1515/jpem-2019-0047. PMID: 31430255
Mutations of the thyroglobulin gene and its relevance to thyroid disorders.
Rubio IG, Medeiros-Neto G
Curr Opin Endocrinol Diabetes Obes 2009 Oct;16(5):373-8. doi: 10.1097/MED.0b013e32832ff218. PMID: 19633549
Antifungal therapy during pregnancy.
King CT, Rogers PD, Cleary JD, Chapman SW
Clin Infect Dis 1998 Nov;27(5):1151-60. doi: 10.1086/514977. PMID: 9827262
Congenital head and neck masses in infants and children. Part II.
Guarisco JL
Ear Nose Throat J 1991 Feb;70(2):75-82. PMID: 2044478
Serum 3,5,3'-triiodothyronine, thyroxine, and thyrotropin in hypothyroid infants with congenital goiter and the response to iodine.
Heidemann P, Stubbe P
J Clin Endocrinol Metab 1978 Jul;47(1):189-92. doi: 10.1210/jcem-47-1-189. PMID: 263290

Diagnosis

US of Pediatric Superficial Masses of the Head and Neck.
Bansal AG, Oudsema R, Masseaux JA, Rosenberg HK
Radiographics 2018 Jul-Aug;38(4):1239-1263. doi: 10.1148/rg.2018170165. PMID: 29995618
Mutations of the thyroglobulin gene and its relevance to thyroid disorders.
Rubio IG, Medeiros-Neto G
Curr Opin Endocrinol Diabetes Obes 2009 Oct;16(5):373-8. doi: 10.1097/MED.0b013e32832ff218. PMID: 19633549
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
Hishinuma A, Takamatsu J, Ohyama Y, Yokozawa T, Kanno Y, Kuma K, Yoshida S, Matsuura N, Ieiri T
J Clin Endocrinol Metab 1999 Apr;84(4):1438-44. doi: 10.1210/jcem.84.4.5633. PMID: 10199792
Congenital head and neck masses in infants and children. Part II.
Guarisco JL
Ear Nose Throat J 1991 Feb;70(2):75-82. PMID: 2044478
Congenital goiter with defective iodide transport.
Wolff J
Endocr Rev 1983 Summer;4(3):240-54. doi: 10.1210/edrv-4-3-240. PMID: 6313338

Therapy

The goiter of a newborn from a mother with Graves´ disease.
Rakuś-Kwiatosz A, Dorosz-Hreńczuk B, Beń-Skowronek I
Pediatr Endocrinol Diabetes Metab 2013;19(2):82-4. PMID: 25612641
Antifungal therapy during pregnancy.
King CT, Rogers PD, Cleary JD, Chapman SW
Clin Infect Dis 1998 Nov;27(5):1151-60. doi: 10.1086/514977. PMID: 9827262
Results of the screening program for congenital hypothyroidism in Berlin (1978-1995).
Grüters A, Liesenkötter KP, Zapico M, Jenner A, Dütting C, Pfeiffer E, Lehmkuhl U
Exp Clin Endocrinol Diabetes 1997;105 Suppl 4:28-31. doi: 10.1055/s-0029-1211928. PMID: 9439911
Serum 3,5,3'-triiodothyronine, thyroxine, and thyrotropin in hypothyroid infants with congenital goiter and the response to iodine.
Heidemann P, Stubbe P
J Clin Endocrinol Metab 1978 Jul;47(1):189-92. doi: 10.1210/jcem-47-1-189. PMID: 263290
Congenital goiter found in a district of Omuro, Kochi, Shikoku, Japan: familial goiter caused by possible defect of diiodotyrosine coupling to form thyroxine.
Tezuka U, Murakami T, Mishiro K, Fujino M, Takeichi O
Endocrinol Jpn 1971 Jun;18(3):267-79. doi: 10.1507/endocrj1954.18.267. PMID: 5172024

Prognosis

Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.
Santos-Silva R, Rosário M, Grangeia A, Costa C, Castro-Correia C, Alonso I, Leão M, Fontoura M
J Pediatr Endocrinol Metab 2019 Nov 26;32(11):1265-1273. doi: 10.1515/jpem-2019-0047. PMID: 31430255
TPO gene mutations associated with thyroid carcinoma: Case report and literature review.
Zhu H, Peng YG, Ma SG, Liu H
Cancer Biomark 2015;15(6):909-13. doi: 10.3233/CBM-150522. PMID: 26406404
Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.
Citterio CE, Morales CM, Bouhours-Nouet N, Machiavelli GA, Bueno E, Gatelais F, Coutant R, González-Sarmiento R, Rivolta CM, Targovnik HM
Mol Cell Endocrinol 2015 Mar 15;404:102-12. Epub 2015 Jan 26 doi: 10.1016/j.mce.2015.01.032. PMID: 25633667
Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.
Liu S, Zhang S, Li W, Zhang A, Qi F, Zheng G, Yan S, Ma X
Twin Res Hum Genet 2012 Feb;15(1):126-32. doi: 10.1375/twin.15.1.126. PMID: 22784463
Congenital goiter causing death of a newborn infant.
KUNSTADTER RH
J Pediatr 1948 Jun;32(6):711-4. doi: 10.1016/s0022-3476(48)80227-1. PMID: 18866939

Clinical prediction guides

TPO gene mutations associated with thyroid carcinoma: Case report and literature review.
Zhu H, Peng YG, Ma SG, Liu H
Cancer Biomark 2015;15(6):909-13. doi: 10.3233/CBM-150522. PMID: 26406404
Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.
Liu S, Zhang S, Li W, Zhang A, Qi F, Zheng G, Yan S, Ma X
Twin Res Hum Genet 2012 Feb;15(1):126-32. doi: 10.1375/twin.15.1.126. PMID: 22784463
Molecular advances in thyroglobulin disorders.
Rivolta CM, Targovnik HM
Clin Chim Acta 2006 Dec;374(1-2):8-24. Epub 2006 Jun 7 doi: 10.1016/j.cca.2006.05.043. PMID: 16870170
Results of the screening program for congenital hypothyroidism in Berlin (1978-1995).
Grüters A, Liesenkötter KP, Zapico M, Jenner A, Dütting C, Pfeiffer E, Lehmkuhl U
Exp Clin Endocrinol Diabetes 1997;105 Suppl 4:28-31. doi: 10.1055/s-0029-1211928. PMID: 9439911
Congenital head and neck masses in infants and children. Part II.
Guarisco JL
Ear Nose Throat J 1991 Feb;70(2):75-82. PMID: 2044478

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