OPEN ACCESS pISSN 2234-3806
eISSN 2234-3814

Cited by CrossRef (64)

  1. Catherine Peters, Adeline K. Nicholas, Erik Schoenmakers, Greta Lyons, Shirley Langham, Eva G. Serra, Neil J. Sebire, Marina Muzza, Laura Fugazzola, Nadia Schoenmakers. DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom. Thyroid 2019;29:790
    https://doi.org/10.1089/thy.2018.0587
  2. S. Acar, S. Gürsoy, G. Arslan, Ö. Nalbantoğlu, F. Hazan, Ö. Köprülü, B. Özkaya, B. Özkan. Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7. J Endocrinol Invest 2022;45:773
    https://doi.org/10.1007/s40618-021-01706-1
  3. Rui Liu, Jing-Li Tian, Xiao-Ling Huang, Yuan-Zong Song. Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients. JCM 2022;11:7313
    https://doi.org/10.3390/jcm11247313
  4. Jisu Lee, Arum Oh, Heon-Seok Han. Ultrasonographic Development and Progression of a Thyroid Nodule in a Girl with TPO-Mutated Dyshormonogenesis during Levothyroxine Supplementation. Int J Thyroidol 2023;16:128
    https://doi.org/10.11106/ijt.2023.16.1.128
  5. Zerin Sasivari, Gabor Szinnai, Britta Seebauer, Daniel Konrad, Mariarosaria Lang-Muritano. Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. 2019;32:1299
    https://doi.org/10.1515/jpem-2019-0051
  6. Jiani Du, Yanling Yang, Ding Wei, Jiajun Wu, Chunping Tian, Qianqian Hu, Hongyan Bian, Chen Cheng, Xiaoyan Zhai. The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism. Annals of Medicine 2025;57
    https://doi.org/10.1080/07853890.2024.2440121
  7. Isabelle Oliver-Petit, Thomas Edouard, Virginie Jacques, Marie Bournez, Audrey Cartault, Solange Grunenwald, Frédérique Savagner. Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis. Front. Endocrinol. 2021;12
    https://doi.org/10.3389/fendo.2021.657913
  8. Rita Santos-Silva, Marta Rosário, Ana Grangeia, Carla Costa, Cíntia Castro-Correia, Isabel Alonso, Miguel Leão, Manuel Fontoura. Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism. 2019;32:1265
    https://doi.org/10.1515/jpem-2019-0047
  9. Ryan J Bruellman, Yui Watanabe, Reham S Ebrhim, Matthew K Creech, Mohamed A Abdullah, Alexandra M Dumitrescu, Samuel Refetoff, Roy E Weiss. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. 2020;105:1564
    https://doi.org/10.1210/clinem/dgz297
  10. Helmut Grasberger, Samuel Refetoff. Resistance to thyrotropin. Best Practice & Research Clinical Endocrinology & Metabolism 2017;31:183
    https://doi.org/10.1016/j.beem.2017.03.004
  11. Bin Yu, Wei Long, Yuqi Yang, Ying Wang, Lihua Jiang, Zhengmao Cai, Huaiyan Wang. Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population. Front. Genet. 2018;9
    https://doi.org/10.3389/fgene.2018.00509
  12. Liangshan Li, Wenmiao Liu, Liqin Zhang, Fang Wang, Fengqi Wang, Maosheng Gu, Xiuli Wang, Shiguo Liu. Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases. Endocrine 2021;72:147
    https://doi.org/10.1007/s12020-020-02437-8
  13. Minjing Zou, Ali S Alzahrani, Ali Al-Odaib, Mohammad A Alqahtani, Omer Babiker, Roua A Al-Rijjal, Huda A BinEssa, Walaa E Kattan, Anwar F Al-Enezi, Ali Al Qarni, Manar S A Al-Faham, Essa Y Baitei, Afaf Alsagheir, Brian F Meyer, Yufei Shi. Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. 2018;103:1889
    https://doi.org/10.1210/jc.2017-02202
  14. Wei Long, Fang Guo, Ruen Yao, Ying Wang, Huaiyan Wang, Bin Yu, Peng Xue. Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort. Front. Endocrinol. 2021;12
    https://doi.org/10.3389/fendo.2021.705773
  15. Núria Camats, Noelia Baz-Redón, Mónica Fernández-Cancio, María Clemente, Ariadna Campos-Martorell, Nadya Jaimes, María Antolín, Elena Garcia-Arumí, Laura Blasco-Pérez, Ida Paramonov, Eduard Mogas, Laura Soler-Colomer, Diego Yeste. Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid. 2021;106:e152
    https://doi.org/10.1210/clinem/dgaa711
  16. Noelia Baz-Redón, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas, Mónica Fernández-Cancio, Elisenda Zafon, Elena García-Arumí, Laura Soler, Núria González-Llorens, Cristina Aguilar-Riera, Núria Camats-Tarruella, Diego Yeste. Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation. IJMS 2024;25:8473
    https://doi.org/10.3390/ijms25158473
  17. . .
    https://doi.org/
  18. Sabina Baumgartner-Parzer. Primäre kongenitale Hypothyreose. J. Klin. Endokrinol. Stoffw. 2019;12:70
    https://doi.org/10.1007/s41969-019-0068-5
  19. Nina Makretskaya, Olga Bezlepkina, Anna Kolodkina, Alexey Kiyaev, Evgeny V. Vasilyev, Vasily Petrov, Svetlana Kalinenkova, Oleg Malievsky, Ivan I. Dedov, Anatoly Tiulpakov, Michelina Plateroti. High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. PLoS ONE 2018;13:e0204323
    https://doi.org/10.1371/journal.pone.0204323
  20. Ari J. Wassner. Congenital Hypothyroidism. Clinics in Perinatology 2018;45:1
    https://doi.org/10.1016/j.clp.2017.10.004
  21. E. V. Shreder, T. A. Vadina, E. N. Solodovnikova, V. V. Zakharova, M. V. Degtyarev, M. B. Konyukhova, N. V. Sergeeva, O. B. Bezlepkina. Pathogenic TSHR variants in children with thyroid dysgenesis. Probl Endokrinol (Mosk) 2023;69:76
    https://doi.org/10.14341/probl13210
  22. Mauricio Gomes Pio, Maricel F. Molina, Sofia Siffo, Ana Chiesa, Carina M. Rivolta, Héctor M. Targovnik. A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis. Molecular and Cellular Endocrinology 2021;522:111124
    https://doi.org/10.1016/j.mce.2020.111124
  23. Daisuke Watanabe, Hideaki Yagasaki, Hiromune Narusawa, Tomohiro Saito, Yumiko Mitsui, Kunio Miyake, Masanori Ohta, Takeshi Inukai. Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing. Endocr J 2021;68:1411
    https://doi.org/10.1507/endocrj.EJ21-0353
  24. Kiyomi Abe, Satoshi Narumi, Ayuko S. Suwanai, Masanori Adachi, Koji Muroya, Yumi Asakura, Keisuke Nagasaki, Takayuki Abe, Tomonobu Hasegawa. Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach. 2018;178:137
    https://doi.org/10.1530/EJE-16-1049
  25. Xiang Huang, Qiaoyi Shao, Shi Weng, Wenfang Chen, Weixi Yuan, Jiayu Tan, Xuexi Yang, Xi Su. Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population. Biomed Rep 2024;22
    https://doi.org/10.3892/br.2024.1908
  26. Maricel F. Molina, Mauricio Gomes Pio, Karen G. Scheps, Ezequiela Adrover, Miguel M. Abelleyro, Héctor Manuel Targovnik, Carina Marcela Rivolta. Curating the GnomAD Database: Report of Novel Variants in the Thyroid Peroxidase Gene Using In Silico Bioinformatics Algorithms and a Literature Review. SSRN Journal 2022
    https://doi.org/10.2139/ssrn.4145417
  27. Peng Xue, Yuqi Yang, Qi Yun, Yue Cui, Bin Yu, Wei Long. Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients. IJGM 2021;Volume 14:4135
    https://doi.org/10.2147/IJGM.S322726
  28. John A.H. Wass, Wiebke Arlt, Robert K. Semple, A.S. Paul van Trotsenburg, Nitash Zwaveling-Soonawala. Oxford Textbook of Endocrinology and Diabetes 3e. 2021.
    https://doi.org/10.1093/med/9780198870197.003.0174
  29. Cintia E. Citterio, Carina M. Rivolta, Héctor M. Targovnik. Structure and genetic variants of thyroglobulin: Pathophysiological implications. Molecular and Cellular Endocrinology 2021;528:111227
    https://doi.org/10.1016/j.mce.2021.111227
  30. Panudda Srichomkwun, Junta Takamatsu, Deborah A. Nickerson, Michael J. Bamshad, Jessica X. Chong, Samuel Refetoff. DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. Thyroid 2017;27:129
    https://doi.org/10.1089/thy.2016.0469
  31. Wei Long, Guanting Lu, Wenbai Zhou, Yuqi Yang, Bin Zhang, Hong Zhou, Lihua Jiang, Bin Yu. Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. Endocr J 2018;65:1019
    https://doi.org/10.1507/endocrj.EJ18-0156
  32. Nadia Schoenmakers. Reference Module in Biomedical Sciences. 2018.
    https://doi.org/10.1016/B978-0-443-13825-6.00172-2
  33. Helmut Grasberger, Mohamed Noureldin, Timothy D. Kao, Jeremy Adler, Joyce M. Lee, Shrinivas Bishu, Mohamad El-Zaatari, John Y. Kao, Akbar K. Waljee. Increased risk for inflammatory bowel disease in congenital hypothyroidism supports the existence of a shared susceptibility factor. Sci Rep 2018;8
    https://doi.org/10.1038/s41598-018-28586-5
  34. Tatsushi Tanaka, Kohei Aoyama, Atsushi Suzuki, Shinji Saitoh, Haruo Mizuno. Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism. 2020;33:691
    https://doi.org/10.1515/jpem-2019-0433
  35. Takeshi Yamaguchi, Akie Nakamura, Kanako Nakayama, Nozomi Hishimura, Shuntaro Morikawa, Katsura Ishizu, Toshihiro Tajima. Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening. 2020;105:e2825
    https://doi.org/10.1210/clinem/dgaa308
  36. Jisu Lee, Sang-gyeom Kim, Arum Oh, Heon-Seok Han. Thyroid Dyshormonogenesis Due to Dual Oxidase Maturation Factor 2 Mutation as Non-Transient Status of Hypothyroidism. Int J Thyroidol 2022;15:54
    https://doi.org/10.11106/ijt.2022.15.1.54
  37. Xavier De Deken, Françoise Miot. NADPH Oxidases. 2022.
    https://doi.org/10.1007/978-1-4939-9424-3_37
  38. Jong-Su Park, Tae-Ik Choi, Oc-Hee Kim, Ted Inpyo Hong, Woo-Keun Kim, Won-Jae Lee, Cheol-Hee Kim. Targeted knockout of duox causes defects in zebrafish growth, thyroid development, and social interaction. Journal of Genetics and Genomics 2019;46:101
    https://doi.org/10.1016/j.jgg.2019.01.004
  39. Kyung-Sun Park. Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database. Genes 2021;12:863
    https://doi.org/10.3390/genes12060863
  40. Alexandra M. Dumitrescu, Ronald N. Cohen. Pediatric Endocrinology. 2021.
    https://doi.org/10.1007/978-3-319-73782-9_20
  41. Dong-Zhu Da, Ye Wang, Min Wang, Zhi Long, Qian Wang, Jun Liu. Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review. INQUIRY 2021;58
    https://doi.org/10.1177/00469580211067943
  42. Héctor M. Targovnik, Karen G. Scheps, Carina M. Rivolta. Defects in protein folding in congenital hypothyroidism. Molecular and Cellular Endocrinology 2020;501:110638
    https://doi.org/10.1016/j.mce.2019.110638
  43. V. A. Peterkova, O. B. Bezlepkina, T. U. Shiryaeva, T. A. Vadina, E. V. Nagaeva, O. A. Chikulaeva, E. V. Shreder, M. B. Konuhova, N. A. Makretskaya, E. A. Shestopalova, V. B. Mitkina. Clinical guideline of «congenital hypothyroidism». Probl Endokrinol (Mosk) 2022;68:90
    https://doi.org/10.14341/probl12880
  44. Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal. Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family. Orphanet J Rare Dis 2017;12
    https://doi.org/10.1186/s13023-017-0575-7
  45. V. A. Peterkova, O. B. Bezlepkina, E. V. Nagaeva, T. U. Shiryaeva, O. A. Chikulaeva, T. A. Vadina, E. V. Shreder, E. B. Bashnina, E. U. Belyashova, N. V. Bolotova, O. V. Vasyukova, G. A. Galkina, M. V. Degtyarev, A. V. Kiyaev, M. B. Konuhova, A. A. Kolodkina, I. B. Коstrova, O. A. Мalievsky, V. B. Mitkina, E. E. Petryaykina, L. N. Samsomova, G. N. Svetlova, T. E. Taranushenko, M. S. Sheremeta, E. A. Shestopalova, I. S. Chugunov. Clinical guidelines “Congenital hypothyroidism”. Clin Exp Thyroid 2024;20:48
    https://doi.org/10.14341/ket12799
  46. Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, Dulanjalee Kariyawasam, Gabor Szinnai, Sylvain Hanein, Christine Bole-Feysot, Cécile Fourrage, Patrick Nitschke, Caroline Thalassinos, Graziella Pinto, Mouna Mnif, Sabine Baron, Marc De Kerdanet, Rachel Reynaud, Pascal Barat, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carré. High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis. Front. Endocrinol. 2021;11
    https://doi.org/10.3389/fendo.2020.545339
  47. Xi Chen, Xiaohong Kong, Jie Zhu, Tingting Zhang, Yanwei Li, Guifeng Ding, Huijuan Wang. Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. International Journal of Endocrinology 2018;2018:1
    https://doi.org/10.1155/2018/8986475
  48. Emel Hatun Aytaç Kaplan, Serdar Mermer. Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience. Archives de Pédiatrie 2024;31:374
    https://doi.org/10.1016/j.arcped.2024.03.005
  49. Ari J. Wassner. Pediatric Hypothyroidism: Diagnosis and Treatment. Pediatr Drugs 2017;19:291
    https://doi.org/10.1007/s40272-017-0238-0
  50. Christine E. Cherella, Ari J. Wassner. Congenital hypothyroidism: insights into pathogenesis and treatment. Int J Pediatr Endocrinol 2017;2017
    https://doi.org/10.1186/s13633-017-0051-0
  51. Nadia Schoenmakers. Encyclopedia of Endocrine Diseases. 2017.
    https://doi.org/10.1016/B978-0-12-801238-3.65336-9
  52. Lei-Qing Yang, Min Chen, Da-Long Ren, Bing Hu. Dual Oxidase Mutant Retards Mauthner-Cell Axon Regeneration at an Early Stage via Modulating Mitochondrial Dynamics in Zebrafish. Neurosci. Bull. 2020;36:1500
    https://doi.org/10.1007/s12264-020-00600-9
  53. Liang Ye, Yifan Yin, Min Chen, Nian Gong, Yong Peng, Hao Liu, Jingkun Miao. Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism. Front. Pediatr. 2023;11
    https://doi.org/10.3389/fped.2023.1185802
  54. Jianhua Sun, Lizhi Sun, Weijie Chen, Xiao Yin, Yong Lu, Qiang Jiang. A family with hypothyroidism caused by fatty acid synthase and apolipoprotein B receptor mutations. Mol Med Report 2018
    https://doi.org/10.3892/mmr.2018.9499
  55. Lucie Levaillant, Natacha Bouhours-Nouet, Frédéric Illouz, Jessica Amsellem Jager, Anne Bachelot, Pascal Barat, Sabine Baron, Candace Bensignor, Aude Brac De La Perriere, Yasmine Braik Djellas, Morgane Caillot, Emmanuelle Caldagues, Marie-Neige Campas, Marylène Caquard, Audrey Cartault, Julie Cheignon, Anne Decrequy, Brigitte Delemer, Katherine Dieckmann, Aurélie Donzeau, Emilie Doye, Mélanie Fradin, Mélanie Gaudillière, Frédérique Gatelais, Magali Gorce, Isabelle Hazart, Nada Houcinat, Laure Houdon, Marielle Ister-Salome, Lucie Jozwiak, Patrick Jeannoel, Francois Labarthe, Didier Lacombe, Anne-Sophie Lambert, Christine Lefevre, Bruno Leheup, Clara Leroy, Benedicte Maisonneuve, Isis Marchand, Emeline Marquant, Matthias Muszlak, Letitia Pantalone, Sandra Pochelu, Chloé Quelin, Catherine Radet, Peggy Renoult-Pierre, Rachel Reynaud, Stéphanie Rouleau, Cécile Teinturier, Julien Thevenon, Caroline Turlotte, Aline Valle, Melody Vierge, Carine Villanueva, Alban Ziegler, Xavier Dieu, Nathalie Bouzamondo, Patrice Rodien, Delphine Prunier-Mirebeau, Régis Coutant. The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing. 2023;108:e779
    https://doi.org/10.1210/clinem/dgad119
  56. Jisun Park, Eun Young Joo, Myung Ji Yoo, Su-Jin Kim, Woori Jang, Ji-Eun Lee. Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ. 2024;103:e38976
    https://doi.org/10.1097/MD.0000000000038976
  57. Kanako Tanase-Nakao, Ichiro Miyata, Ayako Terauchi, Maki Saito, Seiji Wada, Tomonobu Hasegawa, Satoshi Narumi. Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations. Horm Res Paediatr 2018;90:132
    https://doi.org/10.1159/000491104
  58. Erdal Kurnaz, Ayberk Türkyılmaz, Oğuzhan Yaralı, Ayşe Sena Dönmez, Atilla Çayır. Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline. Horm Res Paediatr 2024:1
    https://doi.org/10.1159/000541898
  59. C Peters, A S P van Trotsenburg, N Schoenmakers. DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives. 2018;179:R297
    https://doi.org/10.1530/EJE-18-0383
  60. Françoise Miot, Xavier De Deken. NADPH Oxidases Revisited: From Function to Structure. 2018.
    https://doi.org/10.1007/978-3-031-23752-2_14
  61. Erika Uehara, Kiyomi Abe, Kanako Tanase-Nakao, Koji Muroya, Atsushi Hattori, Keiko Matsubara, Maki Fukami, Satoshi Narumi. Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants. Thyroid® 2024;34:827
    https://doi.org/10.1089/thy.2024.0046
  62. Maricel F. Molina, Mauricio Gomes Pio, Karen G. Scheps, Ezequiela Adrover, Miguel M. Abelleyro, Héctor M. Targovnik, Carina M. Rivolta. Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review. Molecular and Cellular Endocrinology 2022;558:111748
    https://doi.org/10.1016/j.mce.2022.111748
  63. Michelle B. Lemelman, Alexandra M. Dumitrescu. Pediatric Endocrinology. 2022.
    https://doi.org/10.1007/978-3-031-66296-6_17
  64. Huijuan Wang, Xiaohong Kong, Yanrui Pei, Xuemei Cui, Yijie Zhu, Zixuan He, Yanxia Wang, Lirong Zhang, Lixia Zhuo, Chao Chen, Xiaoli Yan. Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism. Mol Med Report 2020
    https://doi.org/10.3892/mmr.2020.11078
© Korean Society for Laboratory Medicine. / Powered by INFOrang Co., Ltd