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Goiter

MedGen UID:
42270
Concept ID:
C0018021
Finding; Pathologic Function
Synonyms: Goitre
SNOMED CT: Thyroid goiter (3716002); Swelling of thyroid gland (3716002); Thyroid enlargement (3716002); Struma - goiter (3716002); Goiter (3716002); Enlargement of thyroid (3716002); Struma of thyroid (3716002); Thyromegaly (3716002)
 
HPO: HP:0000853

Definition

An enlargement of the thyroid gland. [from HPO]

Conditions with this feature

Graves disease
MedGen UID:
6677
Concept ID:
C0018213
Disease or Syndrome
Graves disease is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity.
Cowden syndrome
MedGen UID:
5420
Concept ID:
C0018553
Neoplastic Process
Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS; 153480) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations (Blumenthal and Dennis, 2008). Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al., 2015). Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. Genetic Heterogeneity of Cowden Syndrome Also see Cowden syndrome-2 (CWS2; 612359), caused by mutation in the SDHB gene (185470) on chromosome 1p36; CWS3 (615106), caused by mutation in the SDHD gene (602690) on chromosome 11q23; CWS4 (615107), caused by hypermethylation of the promoter of the KLLN gene (612105), which shares the same transcription site as the PTEN gene, on chromosome 10q23; CWS5 (615108), caused by mutation in the PIK3CA gene (171834) on chromosome 3q26; CWS6 (615109), caused by mutation in the AKT1 gene (164730) on chromosome 14q32; and CWS7 (616858), caused by mutation in the SEC23B gene (610512) on chromosome 20p11.
Thyrotoxic periodic paralysis
MedGen UID:
120639
Concept ID:
C0268446
Disease or Syndrome
Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; 170400), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by Kung, 2006). Genetic Heterogeneity of Thyrotoxic Periodic Paralysis See also TTPP2 (613239), conferred by variation in the KCNJ18 gene (613236) on chromosome 17p11, and TTPP3 (614834), mapped to chromosome 17q24.
Pendred syndrome
MedGen UID:
82890
Concept ID:
C0271829
Congenital Abnormality
Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of hearing loss with or without other findings. Pendred syndrome is characterized by: severe-to-profound bilateral sensorineural hearing impairment that is usually congenital (or prelingual) and non-progressive; vestibular dysfunction; temporal bone abnormalities; and development of euthyroid goiter in late childhood to early adulthood. Variability of findings is considerable, even within the same family. DFNB4 is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular aqueduct (EVA). Thyroid defects are not seen in DFNB4.
Ascher syndrome
MedGen UID:
137910
Concept ID:
C0339085
Disease or Syndrome
Iodotyrosyl coupling defect
MedGen UID:
90976
Concept ID:
C0342194
Disease or Syndrome
Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.
Iodotyrosine deiodination defect
MedGen UID:
87429
Concept ID:
C0342195
Disease or Syndrome
Thyroglobulin synthesis defect
MedGen UID:
87430
Concept ID:
C0342196
Disease or Syndrome
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency
MedGen UID:
90978
Concept ID:
C0342284
Congenital Abnormality
Glutaryl-CoA oxidase deficiency
MedGen UID:
87464
Concept ID:
C0342873
Pathologic Function
Lhermitte-Duclos disease
MedGen UID:
140251
Concept ID:
C0391826
Congenital Abnormality
A benign, WHO grade I cerebellar mass, which occurs in young adults and is composed of dysplastic ganglion cells. It is the major CNS manifestation of Cowden disease, an autosomal dominant condition that causes a variety of hamartomas and neoplasms. (from WHO)
Deficiency of iodide peroxidase
MedGen UID:
226940
Concept ID:
C1291299
Disease or Syndrome
Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency (Park and Chatterjee, 2005). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration (Bakker et al., 2000). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; 188450) to form iodotyrosine.
Thyroid agenesis
MedGen UID:
289647
Concept ID:
C1563716
Congenital Abnormality
In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).
CEREBELLOPARENCHYMAL DISORDER VI
MedGen UID:
331813
Concept ID:
C1834711
Disease or Syndrome
Cerebellar Granule Cell Hypertrophy and Megalencephaly
MedGen UID:
371886
Concept ID:
C1834712
Disease or Syndrome
Hyperthyroidism, nonautoimmune
MedGen UID:
373154
Concept ID:
C1836706
Disease or Syndrome
Hyperthyroxinemia due to Decreased Peripheral Conversion of T4
MedGen UID:
326643
Concept ID:
C1840059
Disease or Syndrome
5-PRIME-@DEIODINASE DEFICIENCY, GENERALIZED, CAUSING EUTHYROID HYPERTHYROXINEMIA
MedGen UID:
326644
Concept ID:
C1840060
Disease or Syndrome
Thyroid dyshormonogenesis 1
MedGen UID:
336422
Concept ID:
C1848805
Disease or Syndrome
Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see 188540) stimulation. Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder. Genetic Heterogeneity of Thyroid Dyshormonogenesis Other forms of thyroid hormone dysgenesis include TDH2A (274500), caused by mutation in the thyroid peroxidase gene (TPO; 606765) on 2p25; Pendred syndrome, a form of thyroid hormone dysgenesis associated with deafness (TDH2B; 274600) and caused by mutation in the SLC26A4 gene (605646) on 7q31; TDH3 (274700), caused by mutation in the thyroglobulin gene (TG; 188450) on 8q24; TDH4 (274800), caused by mutation in the iodotyrosine deiodinase gene (IYD; 612025) on 6q25; TDH5 (274900), caused by mutation in the DUOXA2 gene (612772) on 15q21; and TDH6 (607200), caused by mutation in the DUOX2 gene (606759) on 15q21.
Thyrocerebral-retinal syndrome
MedGen UID:
341311
Concept ID:
C1848813
Disease or Syndrome
Thyroid hormone plasma membrane transport defect
MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
Proteus-like syndrome
MedGen UID:
356222
Concept ID:
C1866398
Disease or Syndrome
Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group.
Thyrotoxic periodic paralysis 2
MedGen UID:
413851
Concept ID:
C2750473
Finding
Thyroid hormone resistance, generalized, autosomal dominant
MedGen UID:
424846
Concept ID:
C2937288
Disease or Syndrome
Thyroid hormone resistance, generalized, autosomal recessive
MedGen UID:
483749
Concept ID:
C3489796
Disease or Syndrome
Cowden syndrome 5
MedGen UID:
767432
Concept ID:
C3554518
Disease or Syndrome
Cowden syndrome 6
MedGen UID:
767433
Concept ID:
C3554519
Disease or Syndrome
Hypothyroidism, congenital, nongoitrous, 1
MedGen UID:
487729
Concept ID:
C3493776
Disease or Syndrome
Resistance to thyroid-stimulating hormone (TSH; see 188540), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous Hypothyroidism CHNG2 (218700) is caused by mutation in the PAX8 gene (167415) on chromosome 2q12-q14; CHNG3 (609893) maps to a locus on chromosome 15q25.3; CHNG4 (275100) is caused by mutation in the TSHB gene (188540) on chromosome 1p13; CHNG5 (225250) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q34; and CHNG6 (614450) is caused by mutation in the THRA gene (190120) on chromosome 17q21.1.

Recent clinical studies

Etiology

Kim SY, Lee YA, Jung HW, Kim HY, Lee HJ, Shin CH, Yang SW
J Pediatr 2016 Mar;170:253-9.e1-2. Epub 2015 Dec 17 doi: 10.1016/j.jpeds.2015.11.008. PMID: 26706234
Lv S, Xie L, Xu D, Wang Y, Jia L, Du Y
Endocrine 2016 May;52(2):296-304. Epub 2015 Sep 25 doi: 10.1007/s12020-015-0742-3. PMID: 26403613
Kambalapalli M, Gupta A, Prasad UR, Francis GL
Thyroid 2015 Feb;25(2):176-82. Epub 2014 Dec 17 doi: 10.1089/thy.2014.0161. PMID: 25340407Free PMC Article
Rendina D, De Palma D, De Filippo G, De Pascale F, Muscariello R, Ippolito R, Fazio V, Fiengo A, Benvenuto D, Strazzullo P, Galletti F
Horm Metab Res 2015 Mar;47(3):214-9. Epub 2014 Aug 25 doi: 10.1055/s-0034-1387702. PMID: 25153684
Zhao W, Han C, Shi X, Xiong C, Sun J, Shan Z, Teng W
PLoS One 2014;9(10):e109549. Epub 2014 Oct 14 doi: 10.1371/journal.pone.0109549. PMID: 25313993Free PMC Article

Diagnosis

Ferianec V, Papcun P, Grochal F, Schenková K, Bártová M
J Obstet Gynaecol Res 2017 Jan;43(1):232-237. Epub 2016 Nov 12 doi: 10.1111/jog.13183. PMID: 27862717
Kim SY, Lee YA, Jung HW, Kim HY, Lee HJ, Shin CH, Yang SW
J Pediatr 2016 Mar;170:253-9.e1-2. Epub 2015 Dec 17 doi: 10.1016/j.jpeds.2015.11.008. PMID: 26706234
Bestetti RB, Cardinalli-Neto A, Restini CB, Couto LB
Int J Cardiol 2016 Jan 1;202:410-2. Epub 2015 Sep 25 doi: 10.1016/j.ijcard.2015.09.052. PMID: 26433162
Lazzeri D, Pozzilli P, Zhang YX, Persichetti P
Thyroid 2015 May;25(5):559-62. Epub 2015 Mar 26 doi: 10.1089/thy.2014.0494. PMID: 25747746
Steggink LC, van Dijk BA, Links TP, Plukker JT
Am J Surg 2015 Jun;209(6):1013-9. Epub 2014 Aug 7 doi: 10.1016/j.amjsurg.2014.06.027. PMID: 25242682

Therapy

Ferianec V, Papcun P, Grochal F, Schenková K, Bártová M
J Obstet Gynaecol Res 2017 Jan;43(1):232-237. Epub 2016 Nov 12 doi: 10.1111/jog.13183. PMID: 27862717
Kudabayeva KI, Koshmaganbetova GK, Mickuviene N, Skalnaya MG, Tinkov AA, Skalny AV
Biol Trace Elem Res 2016 Dec;174(2):261-266. Epub 2016 Apr 22 doi: 10.1007/s12011-016-0711-6. PMID: 27106540
Lv S, Xie L, Xu D, Wang Y, Jia L, Du Y
Endocrine 2016 May;52(2):296-304. Epub 2015 Sep 25 doi: 10.1007/s12020-015-0742-3. PMID: 26403613
Munoz JL, Kessler AA, Felig P, Curtis J, Evans MI
Fetal Diagn Ther 2016;39(3):222-7. Epub 2015 Aug 28 doi: 10.1159/000437367. PMID: 26314950
Rendina D, De Palma D, De Filippo G, De Pascale F, Muscariello R, Ippolito R, Fazio V, Fiengo A, Benvenuto D, Strazzullo P, Galletti F
Horm Metab Res 2015 Mar;47(3):214-9. Epub 2014 Aug 25 doi: 10.1055/s-0034-1387702. PMID: 25153684

Prognosis

Kim SY, Lee YA, Jung HW, Kim HY, Lee HJ, Shin CH, Yang SW
J Pediatr 2016 Mar;170:253-9.e1-2. Epub 2015 Dec 17 doi: 10.1016/j.jpeds.2015.11.008. PMID: 26706234
Miccoli P, Frustaci G, Fosso A, Miccoli M, Materazzi G
Langenbecks Arch Surg 2015 Feb;400(2):253-8. Epub 2014 Nov 29 doi: 10.1007/s00423-014-1258-7. PMID: 25432523
Steggink LC, van Dijk BA, Links TP, Plukker JT
Am J Surg 2015 Jun;209(6):1013-9. Epub 2014 Aug 7 doi: 10.1016/j.amjsurg.2014.06.027. PMID: 25242682
Caron P, Lehert P, Picard S, Landron F
Ann Endocrinol (Paris) 2012 Jun;73(3):202-7. Epub 2012 Jun 12 doi: 10.1016/j.ando.2012.03.041. PMID: 22698716
Schmitz-Winnenthal FH, Schimmack S, Lawrence B, Maier U, Heidmann M, Buchler MW, von Frankenberg M
Langenbecks Arch Surg 2011 Dec;396(8):1157-63. Epub 2011 Aug 2 doi: 10.1007/s00423-011-0822-7. PMID: 21809136

Clinical prediction guides

Kim SY, Lee YA, Jung HW, Kim HY, Lee HJ, Shin CH, Yang SW
J Pediatr 2016 Mar;170:253-9.e1-2. Epub 2015 Dec 17 doi: 10.1016/j.jpeds.2015.11.008. PMID: 26706234
Bestetti RB, Cardinalli-Neto A, Restini CB, Couto LB
Int J Cardiol 2016 Jan 1;202:410-2. Epub 2015 Sep 25 doi: 10.1016/j.ijcard.2015.09.052. PMID: 26433162
Munoz JL, Kessler AA, Felig P, Curtis J, Evans MI
Fetal Diagn Ther 2016;39(3):222-7. Epub 2015 Aug 28 doi: 10.1159/000437367. PMID: 26314950
Lazzeri D, Pozzilli P, Zhang YX, Persichetti P
Thyroid 2015 May;25(5):559-62. Epub 2015 Mar 26 doi: 10.1089/thy.2014.0494. PMID: 25747746
Malboosbaf R, Hosseinpanah F, Mojarrad M, Jambarsang S, Azizi F
Endocrine 2013 Jun;43(3):539-47. Epub 2012 Dec 14 doi: 10.1007/s12020-012-9831-8. PMID: 23238875

Recent systematic reviews

Zhao W, Han C, Shi X, Xiong C, Sun J, Shan Z, Teng W
PLoS One 2014;9(10):e109549. Epub 2014 Oct 14 doi: 10.1371/journal.pone.0109549. PMID: 25313993Free PMC Article
Chen AY, Bernet VJ, Carty SE, Davies TF, Ganly I, Inabnet WB 3rd, Shaha AR; Surgical Affairs Committee of the American Thyroid Association.
Thyroid 2014 Feb;24(2):181-9. Epub 2014 Jan 20 doi: 10.1089/thy.2013.0291. PMID: 24295043
Malboosbaf R, Hosseinpanah F, Mojarrad M, Jambarsang S, Azizi F
Endocrine 2013 Jun;43(3):539-47. Epub 2012 Dec 14 doi: 10.1007/s12020-012-9831-8. PMID: 23238875
Randolph GW, Shin JJ, Grillo HC, Mathisen D, Katlic MR, Kamani D, Zurakowski D
Laryngoscope 2011 Jan;121(1):68-76. doi: 10.1002/lary.21091. PMID: 21154775
Shin JJ, Grillo HC, Mathisen D, Katlic MR, Zurakowski D, Kamani D, Randolph GW
Laryngoscope 2011 Jan;121(1):60-7. doi: 10.1002/lary.21084. PMID: 21132771

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