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Euthyroid goiter(MNG1)

MedGen UID:
86230
Concept ID:
C0302859
Disease or Syndrome; Finding
Synonyms: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION; MNG1; MULTINODULAR GOITER, ADOLESCENT; SIMPLE GOITER
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): DICER1 (14q32.13)
 
HPO: HP:0009798
Monarch Initiative: MONDO:0007681
OMIM®: 138800
Orphanet: ORPHA276399

Disease characteristics

Excerpted from the GeneReview: DICER1 Tumor Predisposition
DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns). [from GeneReviews]
Authors:
Kris Ann P Schultz  |  Douglas R Stewart  |  Junne Kamihara, et. al.   view full author information

Additional description

From OMIM
Multinodular goiter (MNG) is a common disorder characterized by nodular enlargement of the thyroid gland. In MNG1, some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary (summary by Rio Frio et al., 2011). Genetic Heterogeneity of Multinodular Goiter Other MNG loci map to chromosome Xp22 (MNG2; 300273) and chromosome 3q26 (MNG3; 606082).  http://www.omim.org/entry/138800

Clinical features

From HPO
Papillary thyroid carcinoma
MedGen UID:
66773
Concept ID:
C0238463
Neoplastic Process
The presence of a papillary adenocarcinoma of the thyroid gland.
Euthyroid multinodular goiter
MedGen UID:
335327
Concept ID:
C1846034
Disease or Syndrome

Term Hierarchy

Conditions with this feature

Branchiootorenal syndrome 1
MedGen UID:
1632634
Concept ID:
C4551702
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.

Professional guidelines

PubMed

Răcătăianu N, Bolboacă SD, Sitar-Tăut AV, Mârza S, Moga D, Valea A, Ghervan C
Acta Clin Belg 2018 Oct;73(5):317-323. Epub 2018 Feb 16 doi: 10.1080/17843286.2018.1439273. PMID: 29452573
Lee SJ, Lim GY, Kim JY, Chung MH
Pediatr Radiol 2016 Jan;46(1):104-11. Epub 2015 Aug 23 doi: 10.1007/s00247-015-3435-4. PMID: 26298554
Führer D, Bockisch A, Schmid KW
Dtsch Arztebl Int 2012 Jul;109(29-30):506-15; quiz 516. Epub 2012 Jul 23 doi: 10.3238/arztebl.2012.0506. PMID: 23008749Free PMC Article

Recent clinical studies

Etiology

Mayers RA, Soria Montoya A, Piscoya Rivera A, Silva Caso WG
Colomb Med (Cali) 2019 Dec 30;50(4):239-251. doi: 10.25100/cm.v50i4.2833. PMID: 32476690Free PMC Article
Barczyński M, Stopa-Barczyńska M
Best Pract Res Clin Endocrinol Metab 2019 Aug;33(4):101288. Epub 2019 Jun 14 doi: 10.1016/j.beem.2019.06.004. PMID: 31281088
Hartmann T, Vach W, Frings L, Mix M, Meyer PT, Ruf J
Nuklearmedizin 2017;56(5):171-176. Epub 2018 Jan 4 doi: 10.3413/Nukmed-0875-17-01. PMID: 29533423
Paschke R
Langenbecks Arch Surg 2011 Dec;396(8):1127-36. Epub 2011 Apr 14 doi: 10.1007/s00423-011-0788-5. PMID: 21487943
Brenta G, Schnitman M, Fretes O, Facco E, Gurfinkel M, Damilano S, Pacenza N, Blanco A, Gonzalez E, Pisarev MA
J Clin Endocrinol Metab 2003 Nov;88(11):5287-92. doi: 10.1210/jc.2003-030095. PMID: 14602763

Diagnosis

Yu ZW, Pu SD, Sun XT, Wang XC, Gao XY, Shan ZY
Clin Interv Aging 2023;18:1263-1274. Epub 2023 Aug 3 doi: 10.2147/CIA.S413584. PMID: 37554512Free PMC Article
Bombil I, Mogane PN, Muganza RA
S Afr J Surg 2023 Jun;61(2):111-115. doi: 10.36303/SAJS.3900. PMID: 37381809
Bilginer MC, Tam AA, Fakı S, Güler BY, Erel Ö, Kılınç İ, Özdemir D, Topaloğlu O, Ersoy R, Çakır B
Turk J Med Sci 2022 Aug;52(4):990-996. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5400. PMID: 36326389Free PMC Article
Yafi M
Hormones (Athens) 2019 Sep;18(3):331-332. Epub 2019 Mar 5 doi: 10.1007/s42000-019-00103-x. PMID: 30835061
Führer D, Bockisch A, Schmid KW
Dtsch Arztebl Int 2012 Jul;109(29-30):506-15; quiz 516. Epub 2012 Jul 23 doi: 10.3238/arztebl.2012.0506. PMID: 23008749Free PMC Article

Therapy

Barczyński M, Stopa-Barczyńska M
Best Pract Res Clin Endocrinol Metab 2019 Aug;33(4):101288. Epub 2019 Jun 14 doi: 10.1016/j.beem.2019.06.004. PMID: 31281088
Hartmann T, Vach W, Frings L, Mix M, Meyer PT, Ruf J
Nuklearmedizin 2017;56(5):171-176. Epub 2018 Jan 4 doi: 10.3413/Nukmed-0875-17-01. PMID: 29533423
Aboelnaga MM, Elshafei MM, Elsayed E
Endocrinol Nutr 2016 Oct;63(8):380-6. Epub 2016 Aug 21 doi: 10.1016/j.endonu.2016.06.005. PMID: 27552913
Führer D, Bockisch A, Schmid KW
Dtsch Arztebl Int 2012 Jul;109(29-30):506-15; quiz 516. Epub 2012 Jul 23 doi: 10.3238/arztebl.2012.0506. PMID: 23008749Free PMC Article
Brenta G, Schnitman M, Fretes O, Facco E, Gurfinkel M, Damilano S, Pacenza N, Blanco A, Gonzalez E, Pisarev MA
J Clin Endocrinol Metab 2003 Nov;88(11):5287-92. doi: 10.1210/jc.2003-030095. PMID: 14602763

Prognosis

Damaskos C, Garmpis N, Dimitroulis D, Kyriakos G, Diamantis E
Acta Medica (Hradec Kralove) 2021;64(4):200-203. doi: 10.14712/18059694.2022.2. PMID: 35285441
Daroszewski J, Paczkowska K, Jawiarczyk-Przybyłowska A, Bolanowski M, Jeleń M
Endokrynol Pol 2018;69(1):28-31. Epub 2018 Jan 10 doi: 10.5603/EP.a2018.0010. PMID: 29319130
Aboelnaga MM, Elshafei MM, Elsayed E
Endocrinol Nutr 2016 Oct;63(8):380-6. Epub 2016 Aug 21 doi: 10.1016/j.endonu.2016.06.005. PMID: 27552913
Spadafranca A, Cappelletti C, Leone A, Vignati L, Battezzati A, Bedogni G, Bertoli S
Clin Nutr 2015 Aug;34(4):674-8. Epub 2014 Aug 4 doi: 10.1016/j.clnu.2014.07.014. PMID: 25176403
Paschke R
Langenbecks Arch Surg 2011 Dec;396(8):1127-36. Epub 2011 Apr 14 doi: 10.1007/s00423-011-0788-5. PMID: 21487943

Clinical prediction guides

Yu ZW, Pu SD, Sun XT, Wang XC, Gao XY, Shan ZY
Clin Interv Aging 2023;18:1263-1274. Epub 2023 Aug 3 doi: 10.2147/CIA.S413584. PMID: 37554512Free PMC Article
Aboelnaga MM, Elshafei MM, Elsayed E
Endocrinol Nutr 2016 Oct;63(8):380-6. Epub 2016 Aug 21 doi: 10.1016/j.endonu.2016.06.005. PMID: 27552913
Haddad L, Haddad FL, Bittencourt L, Gregório LC, Tufik S, Abrahão M
Sleep Breath 2013 May;17(2):673-8. Epub 2012 Jul 3 doi: 10.1007/s11325-012-0741-z. PMID: 22752757
Brenta G, Schnitman M, Fretes O, Facco E, Gurfinkel M, Damilano S, Pacenza N, Blanco A, Gonzalez E, Pisarev MA
J Clin Endocrinol Metab 2003 Nov;88(11):5287-92. doi: 10.1210/jc.2003-030095. PMID: 14602763
Torchio R, Gulotta C, Perboni A, Ciacco C, Guglielmo M, Orlandi F, Milic-Emili J
Chest 2003 Jul;124(1):133-40. doi: 10.1378/chest.124.1.133. PMID: 12853515

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