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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.
Autosomal dominant inheritance (Orphanet)
 
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
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.
See: Feature record | Search on this feature
Euthyroid multinodular goiter
MedGen UID:
335327
•Concept ID:
C1846034
•
Disease or Syndrome
See: Feature record | Search on this feature
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Term Hierarchy

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

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.
See: Condition Record
Branchiootorenal syndrome 1

Professional guidelines

PubMed

Pediatric Goiter: Can Thyroid Disorders Be Predicted at Diagnosis and in Follow-Up?
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
American Thyroid Association statement on optimal surgical management of goiter.
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
Euthyroid goiter with and without nodules--diagnosis and treatment.
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

Evaluation of Dyspepsia with Optimal and Suboptimal Gastric Emptying Tests in Patients with Euthyroid Goiter.
Ceylan S, Yilmaz N
Curr Med Imaging 2023;19(14):1665-1674. doi: 10.2174/1573405619666230209123957. PMID: 36757035
Hemithyroidectomy for benign euthyroid asymmetric nodular goitre.
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
Radioiodine therapy of benign thyroid-disorders.
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
Euthyroid goiter with and without nodules--diagnosis and treatment.
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
Molecular pathogenesis of nodular goiter.
Paschke R
Langenbecks Arch Surg 2011 Dec;396(8):1127-36. Epub 2011 Apr 14 doi: 10.1007/s00423-011-0788-5. PMID: 21487943

Diagnosis

Mediastinal goitre - a South African case series.
Bombil I, Mogane PN, Muganza RA
S Afr J Surg 2023 Jun;61(2):111-115. doi: 10.36303/SAJS.3900. PMID: 37381809
Radioiodine therapy of benign thyroid-disorders.
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
Pediatric Goiter: Can Thyroid Disorders Be Predicted at Diagnosis and in Follow-Up?
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
Euthyroid goiter with and without nodules--diagnosis and treatment.
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
Molecular pathogenesis of euthyroid and toxic multinodular goiter.
Krohn K, Führer D, Bayer Y, Eszlinger M, Brauer V, Neumann S, Paschke R
Endocr Rev 2005 Jun;26(4):504-24. Epub 2004 Dec 22 doi: 10.1210/er.2004-0005. PMID: 15615818

Therapy

Hemithyroidectomy for benign euthyroid asymmetric nodular goitre.
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
Radioiodine therapy of benign thyroid-disorders.
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
Radioiodine therapy increases the risk of cerebrovascular events in hyperthyroid and euthyroid patients.
la Cour JL, Jensen LT, Vej-Hansen A, Nygaard B
Eur J Endocrinol 2015 Jun;172(6):771-8. doi: 10.1530/EJE-14-1105. PMID: 25920711
Euthyroid goiter with and without nodules--diagnosis and treatment.
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
Iodine excess and thyroid autoimmunity.
Bournaud C, Orgiazzi JJ
J Endocrinol Invest 2003;26(2 Suppl):49-56. PMID: 12762641

Prognosis

Is There a Correlation of TSI Levels and Incidental Papillary Thyroid Carcinoma in Graves Disease? A Review of the Latest Evidence.
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
Vitamin D status in Egyptian euthyroid multinodular non-toxic goiter patients and its correlation with TSH levels.
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
Pediatric Goiter: Can Thyroid Disorders Be Predicted at Diagnosis and in Follow-Up?
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
The DIAGONALE study: a survey designed to analyze the diagnosis and management of goiter in France.
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
Molecular pathogenesis of nodular goiter.
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

Impaired Sensitivity to Thyroid Hormones is Associated with Mild Cognitive Impairment in Euthyroid Patients with Type 2 Diabetes.
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
Association between TSH Level and Pregnancy Outcomes in Euthyroid Women Undergoing IVF/ICSI: A Retrospective Study and Meta-analysis.
Jin L, Wang M, Yue J, Zhu GJ, Zhang B
Curr Med Sci 2019 Aug;39(4):631-637. Epub 2019 Jul 25 doi: 10.1007/s11596-019-2084-5. PMID: 31347001
Vitamin D status in Egyptian euthyroid multinodular non-toxic goiter patients and its correlation with TSH levels.
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
Pediatric Goiter: Can Thyroid Disorders Be Predicted at Diagnosis and in Follow-Up?
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
Orthopnea and tidal expiratory flow limitation in patients with euthyroid goiter.
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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