Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B.
Hormones (Athens). 2021 Jun;20(2):225-236. doi: 10.1007/s42000-020-00267-x. Epub 2021 Jan 5.
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M.
Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333.
Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population.
Sarma AS, Desai A, Rao M, Sahoo JP, Shivaprasad C, Ranganath P, Lakshmi P, D'Sa L, Dalal A.
Horm Res Paediatr. 2024 Jul 18:1-9. doi: 10.1159/000539825. Online ahead of print.
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. doi: 10.1530/EJE-17-1017. Epub 2018 Apr 12.
Disorders of H2O2 generation.
Muzza M, Fugazzola L.
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):225-240. doi: 10.1016/j.beem.2017.04.006. Epub 2017 May 10.
Clinical genetics of congenital hypothyroidism.
Szinnai G.
Endocr Dev. 2014;26:60-78. doi: 10.1159/000363156. Epub 2014 Aug 29.
Defects of Thyroid Hormone Synthesis and Action.
Hannoush ZC, Weiss RE.
Endocrinol Metab Clin North Am. 2017 Jun;46(2):375-388. doi: 10.1016/j.ecl.2017.01.005. Epub 2017 Mar 6.
Thyroid dyshormonogenesis and associated non-thyroidal anomalies in a tertiary care hospital in India.
Rather TA, Khan SH, Masoodi S, Alai MS.
Horm Res Paediatr. 2014;81(5):314-8. doi: 10.1159/000357843. Epub 2014 Mar 14.
Genetics of congenital hypothyroidism.
Park SM, Chatterjee VK.
J Med Genet. 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158.
Genetics and management of congenital hypothyroidism.
Persani L, Rurale G, de Filippis T, Galazzi E, Muzza M, Fugazzola L.
Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):387-396. doi: 10.1016/j.beem.2018.05.002. Epub 2018 May 19.
