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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
Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.
Borck G, Seewi O, Jung A, Schönau E, Kubisch C
J Clin Endocrinol Metab 2009 Jun;94(6):2106-9. Epub 2009 Mar 24 doi: 10.1210/jc.2008-2361. PMID: 19318451
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
Perinatal goiter with increased iodine uptake and hypothyroidism due to excess maternal iodine ingestion.
Thomas Jde V, Collett-Solberg PF
Horm Res 2009;72(6):344-7. Epub 2009 Oct 21 doi: 10.1159/000249162. PMID: 19844123
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

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 and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: clinical, pathological, kinetic, and biochemical studies and a review of the literature.
Cooper DS, Axelrod L, DeGroot LJ, Vickery AL Jr, Maloof F
J Clin Endocrinol Metab 1981 Feb;52(2):294-306. doi: 10.1210/jcem-52-2-294. PMID: 7462393

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
Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism.
Baryshev M, Sargsyan E, Wallin G, Lejnieks A, Furudate S, Hishinuma A, Mkrtchian S
J Mol Endocrinol 2004 Jun;32(3):903-20. doi: 10.1677/jme.0.0320903. PMID: 15171721
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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