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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
Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
Tanase-Nakao K, Iwahashi-Odano M, Sugisawa C, Abe K, Muroya K, Yamamoto Y, Kawada Y, Mushimoto Y, Ohkubo K, Kinjo S, Shimura K, Aoyama K, Mizuno H, Hotsubo T, Takahashi C, Isojima T, Kina Y, Takakuwa S, Hamada J, Sawaki M, Shigehara K, Sugimoto S, Etani Y, Narumi-Wakayama H, Mine Y, Hasegawa T, Hishinuma A, Narumi S
J Clin Endocrinol Metab 2024 Aug 13;109(9):2358-2365. doi: 10.1210/clinem/dgae098. PMID: 38373250
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
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

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
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
Thyroid dyshormonogenesis.
Kumar PG, Anand SS, Sood V, Kotwal N
Indian Pediatr 2005 Dec;42(12):1233-5. PMID: 16424561

Therapy

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
Early detection of thyroid dyshormonogenesis in a breast-fed infant using a filter paper screening method.
Sack J, Katznelson D, Czerniak P, Lunenfeld B
Monogr Hum Genet 1978;10:185-7. doi: 10.1159/000401590. PMID: 723892

Prognosis

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
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N, Zou M, BinEssa HA, Abdi S, Al-Enezi AF, Meyer BF, Alzahrani AS, Shi Y
J Clin Endocrinol Metab 2022 Feb 17;107(3):e1263-e1276. doi: 10.1210/clinem/dgab737. PMID: 34632506
A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism.
Hermanns P, Claßen C, Pohlenz J
Thyroid 2020 Dec;30(12):1831-1833. Epub 2020 Jul 16 doi: 10.1089/thy.2020.0293. PMID: 32486989
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

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
Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.
Narumi S, Muroya K, Asakura Y, Aachi M, Hasegawa T
J Clin Endocrinol Metab 2011 Nov;96(11):E1838-42. Epub 2011 Sep 7 doi: 10.1210/jc.2011-1573. PMID: 21900383
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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