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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)

Professional guidelines

PubMed

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
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
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

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
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
Begum MN, Islam MT, Hossain SR, Bhuyan GS, Halim MA, Shahriar I, Sarker SK, Haque S, Konika TK, Islam MS, Rahat A, Qadri SK, Sultana R, Begum S, Sultana S, Saha N, Hasan M, Hasanat MA, Banu H, Shekhar HU, Chowdhury EK, Sajib AA, Islam ABMMK, Qadri SS, Qadri F, Akhteruzzaman S, Mannoor K
Biomed Res Int 2019;2019:9218903. Epub 2019 Feb 24 doi: 10.1155/2019/9218903. PMID: 30915365Free PMC Article
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T
Eur J Endocrinol 2007 May;156(5):511-9. doi: 10.1530/EJE-07-0037. PMID: 17468186

Diagnosis

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
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
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
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Kumar PG, Anand SS, Sood V, Kotwal N
Indian Pediatr 2005 Dec;42(12):1233-5. PMID: 16424561

Therapy

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
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
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
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
Felner EI
J Matern Fetal Neonatal Med 2002 Sep;12(3):207-8. doi: 10.1080/jmf.12.3.207.208. PMID: 12530620

Prognosis

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
Begum MN, Islam MT, Hossain SR, Bhuyan GS, Halim MA, Shahriar I, Sarker SK, Haque S, Konika TK, Islam MS, Rahat A, Qadri SK, Sultana R, Begum S, Sultana S, Saha N, Hasan M, Hasanat MA, Banu H, Shekhar HU, Chowdhury EK, Sajib AA, Islam ABMMK, Qadri SS, Qadri F, Akhteruzzaman S, Mannoor K
Biomed Res Int 2019;2019:9218903. Epub 2019 Feb 24 doi: 10.1155/2019/9218903. PMID: 30915365Free PMC Article
Sparling DP, Fabian K, Harik L, Jobanputra V, Anyane-Yeboa K, Oberfield SE, Fennoy I
J Pediatr Endocrinol Metab 2016 May 1;29(5):627-31. doi: 10.1515/jpem-2015-0253. PMID: 26894573Free PMC Article
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Moreno JC, Visser TJ
Endocr Dev 2007;10:99-117. doi: 10.1159/000106822. PMID: 17684392

Clinical prediction guides

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
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
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
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
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article

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