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Thyroid dyshormonogenesis

MedGen UID:
574883
•Concept ID:
C0342191
•
Disease or Syndrome
Synonym: Familial dyshormonogenetic goiter
SNOMED CT: Familial dyshormonogenetic goiter (237554005)

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThyroid dyshormonogenesis

Professional guidelines

PubMed

Molecular genetic screening of full-term small for gestational age.
Zhang S, Zhou L, Zhang L, Wang Y, Wang H
BMC Pediatr 2023 May 5;23(1):217. doi: 10.1186/s12887-023-04030-0. PMID: 37147621Free PMC Article
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD
Eur J Endocrinol 2018 Jun;178(6):623-633. Epub 2018 Apr 12 doi: 10.1530/EJE-17-1017. PMID: 29650690Free PMC Article
DUOXS defects: Genotype-phenotype correlations.
Fugazzola L, Muzza M, Weber G, Beck-Peccoz P, Persani L
Ann Endocrinol (Paris) 2011 Apr;72(2):82-6. Epub 2011 Apr 20 doi: 10.1016/j.ando.2011.03.004. PMID: 21511237

Recent clinical studies

Etiology

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Baz-Redón N, Antolín M, Clemente M, Campos A, Mogas E, Fernández-Cancio M, Zafon E, García-Arumí E, Soler L, González-Llorens N, Aguilar-Riera C, Camats-Tarruella N, Yeste D
Int J Mol Sci 2024 Aug 3;25(15) doi: 10.3390/ijms25158473. PMID: 39126042Free PMC Article
Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
Multi-parametric Ultrasound Evaluation of Pediatric Thyroid Dyshormonogenesis.
Adaletli I, Bayramoglu Z, Caliskan E, Yilmaz R, Akyol Sari ZN, Bas F, Kardelen AD, Poyrazoglu S, Darendeliler F
Ultrasound Med Biol 2019 Jul;45(7):1644-1653. Epub 2019 Apr 25 doi: 10.1016/j.ultrasmedbio.2019.03.004. PMID: 31031038
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.
Moreno JC, Visser TJ
Endocr Dev 2007;10:99-117. doi: 10.1159/000106822. PMID: 17684392

Diagnosis

Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
DUOX Defects and Their Roles in Congenital Hypothyroidism.
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
Iodide handling disorders (NIS, TPO, TG, IYD).
Targovnik HM, Citterio CE, Rivolta CM
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):195-212. Epub 2017 Apr 4 doi: 10.1016/j.beem.2017.03.006. PMID: 28648508
Congenital Hypothyroidism: Facts, Facets & Therapy.
Kollati Y, Ambati RR, Reddy PN, Kumar NSS, Patel RK, Dirisala VR
Curr Pharm Des 2017;23(16):2308-2313. doi: 10.2174/1381612823666170206124255. PMID: 28176629
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article

Therapy

Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism.
Gong L, Yang N, Zhao J, Tang Y, Li L, Yang H, Kong Y
J Pediatr Endocrinol Metab 2022 Jun 27;35(6):741-748. Epub 2022 Apr 20 doi: 10.1515/jpem-2022-0052. PMID: 35438852
Disorders of H(2)O(2) generation.
Muzza M, Fugazzola L
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):225-240. Epub 2017 May 10 doi: 10.1016/j.beem.2017.04.006. PMID: 28648510
Congenital Hypothyroidism: Facts, Facets & Therapy.
Kollati Y, Ambati RR, Reddy PN, Kumar NSS, Patel RK, Dirisala VR
Curr Pharm Des 2017;23(16):2308-2313. doi: 10.2174/1381612823666170206124255. PMID: 28176629
Treatment of congenital thyroid dysfunction: Achievements and challenges.
Krude H, Kühnen P, Biebermann H
Best Pract Res Clin Endocrinol Metab 2015 Jun;29(3):399-413. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.004. PMID: 26051299
A newborn with a goiter and thyroid dyshormonogenesis.
Felner EI
J Matern Fetal Neonatal Med 2002 Sep;12(3):207-8. doi: 10.1080/jmf.12.3.207.208. PMID: 12530620

Prognosis

Congenital hypothyroidism in Northern Ireland: 40 years' experience of national screening programme.
Darrat M, Kayes L, Woodside JV, Mullan K, Abid N
Clin Endocrinol (Oxf) 2023 Oct;99(4):409-416. Epub 2023 Jun 6 doi: 10.1111/cen.14940. PMID: 37278153
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF, Papendieck P, Sobrero G, Balbi VA, Belforte FS, Martínez EB, Adrover E, Olcese MC, Chiesa A, Miras MB, González VG, Pio MG, González-Sarmiento R, Targovnik HM, Rivolta CM
Endocrine 2022 Jun;77(1):86-101. Epub 2022 May 4 doi: 10.1007/s12020-022-03054-3. PMID: 35507000
Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis.
Lee CC, Harun F, Jalaludin MY, Heh CH, Othman R, Junit SM
BMJ Open 2015 Jan 5;5(1):e006121. doi: 10.1136/bmjopen-2014-006121. PMID: 25564141Free PMC Article
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.
Moreno JC, Visser TJ
Endocr Dev 2007;10:99-117. doi: 10.1159/000106822. PMID: 17684392

Clinical prediction guides

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF, Papendieck P, Sobrero G, Balbi VA, Belforte FS, Martínez EB, Adrover E, Olcese MC, Chiesa A, Miras MB, González VG, Pio MG, González-Sarmiento R, Targovnik HM, Rivolta CM
Endocrine 2022 Jun;77(1):86-101. Epub 2022 May 4 doi: 10.1007/s12020-022-03054-3. PMID: 35507000
DUOX Defects and Their Roles in Congenital Hypothyroidism.
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD
Eur J Endocrinol 2018 Jun;178(6):623-633. Epub 2018 Apr 12 doi: 10.1530/EJE-17-1017. PMID: 29650690Free PMC Article
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.
Moreno JC, Visser TJ
Endocr Dev 2007;10:99-117. doi: 10.1159/000106822. PMID: 17684392

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