Isfahan University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Mutations of Dual Oxidase 2 (Duox2) Gene Among Patients With Permanent and Transient Congenital Hypothyroidism



Rostampour N1 ; Tajaddini MH2 ; Hashemipour M3 ; Salehi M4 ; Feizi A5 ; Haghjooy S6 ; Kelishadi R7
Authors
Show Affiliations
Authors Affiliations
  1. 1. Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. School of Pharmacy and Isfahan Pharmaceutical Sciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Endocrine and Metabolism Research Center, Child Health Promotion Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  5. 5. Department of Epidemiology and Biostatics, School of Public Health, Isfahan University of Medical Sciences, Isfahan, Iran
  6. 6. Dept. of Physiology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  7. 7. Department of Pediatrics, Child Health Promotion Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Pakistan Journal of Medical Sciences Published:2012

Abstract

Objective: The prevalence of congenital hypothyroidism (CH) is high in Isfahan, Iran. In addition, it has different etiologies compared with other countries. The rate of parental consanguinity is also high in the city. Moreover, DUOX2 gene is effective in transient CH and permanent CH due to dyshormonogenesis. Therefore, the aim of this research was to investigate the mutations of DUOX2 gene in patients with transient CH and permanent CH due to dyshormonogenesis. Methodology: In this descriptive, prospective study, patients diagnosed with transient and permanent CH due to dyshormonogenesis during CH screening program were selected. Venous blood samples were obtained to determine the 3 mutations (Q36H, R376W, and D506N) of DUOX2 gene using polymerase chain reaction (PCR) method by specific primers and complementary methods such as restriction fragment length polymorphism (RFLP) and singlestrand conformation polymorphism (SSCP). Results: In this study, 25 patients with transient CH and 33 subjects with permanent CH due to dyshormonogenesis were studied. In addition, 30 children were studied as the control group. We did not find any mutations of the 3 mentioned mutations of DUOX2 gene. Conclusion: Considering the findings of the current study, further studies with other methods are required to evaluate other gene mutations such as pendrin, sodium-iodide symporter (NIS) and thyroglobulin.
Related Docs
View other Related Docs
1. The Mutation of Dual Oxidase 2 (Duox2) Gene Among Patients With Permanent and Transient Congenital Hypothyroidism, Journal of Isfahan Medical School (2011)
2. R434x Mutation in Dual Oxidase 2 Gene Among Patients With Permanent and Transient Congenital Hypothyroidism, Journal of Isfahan Medical School (2013)
3. Potential Mutations of Thyroid Peroxidase Gene in Children With Congenital Hypothyroidism in Isfahan Province, Iranian Journal of Endocrinology and Metabolism (2010)
4. Thyroid Peroxidase Gene Mutation in Patients With Congenital Hypothyroidism in Isfahan, Iran, International Journal of Endocrinology (2012)
5. Thyroid Abnormalities Among First-Degree Relatives of Children With Congenital Hypothyroidism: An Ultrasound Survey, Hormone Research (2008)
6. The G395r Mutation of the Sodium/Iodide Symporter (Nis) Gene in Patients With Dyshormonogenetic Congenital Hypothyroidism, International Journal of Preventive Medicine (2013)
7. Prevalence of Permanent Congenital Hypothyroidism in Isfahan-Iran, International Journal of Preventive Medicine (2013)
8. Ttf2 Gene Mutation in Neonates With Congenital Hypothyroidism Caused by Thyroid Dysgenesis, Journal of Isfahan Medical School (2012)
Experts (# of related papers)
View all Related Experts
Mahin Hashemipour (42)
Silva Hovsepian (31)
Other Related Docs
9. The Role of Maternal Tsh Receptor Blocking Antibody in the Etiology of Congenital Hypothyroidism in Isfahan, Journal of Isfahan Medical School (2011)
10. Mutations in the Gene Encoding Paired Box Domain (Pax8) Are Not a Frequent Cause of Congenital Hypothyroidism (Ch) in Iranian Patients With Thyroid Dysgenesis; [As Mutacoes No Gene Pax8 Nao Constituem Uma Causa Frequente De Hipotireoidismo Congenito Em Pacientes Iranianos Com Disgenesia Tiroidiana], Arquivos Brasileiros de Endocrinologia e Metabologia (2010)
11. Congenital Hypothyroidism; Is There Any Familial Component?, Journal of Isfahan Medical School (2009)
12. Sonographic Assessment of Congenitally Hypothyroid Children in Iran, Endokrynologia Polska (2010)
13. The Association Between Familial and Environmental Factors and Prevalence of Congenital Hypothyroidism in Center of Iran, Environmental Science and Pollution Research (2021)
14. Thyroid Function Abnormalities Among First-Degree Relatives of Iranian Congenital Hypothyroidism Neonates, Pediatrics International (2010)
15. Permanent and Transient Congenital Hypothyroidism in Isfahan-Iran, Journal of Medical Screening (2009)
16. Parental Consanguinity Among Parents of Neonates With Congenital Hypothyroidism in Isfahan, Eastern Mediterranean Health Journal (2007)
17. Thyroid Dysfunction in Very-Low-Birth-Weight Premature Neonates: A Systematic Review of Published Evidence, Journal of Isfahan Medical School (2017)
18. Intelligence Quotient in Children With Congenital Hypothyroidism: The Effect of Diagnostic and Treatment Variables, Journal of Research in Medical Sciences (2013)
19. Epidemiology of Neonatal Congenital Hypothyroidism During 2011-2017, Journal of Critical Reviews (2020)
20. Growth Development in Children With Congenital Hypothyroidism: The Effect of Screening and Treatment Variables—A Comprehensive Longitudinal Study, Endocrine (2016)
21. Seasonal Variation in the Incidence of Congenital Hypothyroidism in Isfahan, Iran, Saudi Medical Journal (2007)
22. The Longitudinal Growth Trajectory of Children With Congenital Hypothyroidism During the First 3 Years of Life, European Journal of Pediatrics (2024)
23. Effect of Diagnostic and Treatment Factors on Growth Development of Children With Congenital Hypothyroidism: A Prospective Longitudinal Study, Iranian Journal of Endocrinology and Metabolism (2015)
24. The Consensus on the Diagnosis and Management of Congenital 2 Hypothyroidism in Term Neonates, International Journal of Preventive Medicine (2023)
25. Rate of Recalls in Congenital Hypothyroidism Based Upon a Regional Survey in Isfahan, Iran, Using Serum T4 and Tsh Analyses: Comparison of Two Different Recall Methods, Hormone Research (2005)
26. Guideline for the Treatment of Hypothyroidism in Prematurity, International Journal of Preventive Medicine (2021)
27. Spatial Distribution of Congenital Hypothyroidism, Archives of Iranian Medicine (2021)
28. The Role of Ultrasonography in Primary Congenital Hypothyroidism, Journal of Research in Medical Sciences (2011)
29. [Tc]-99M Thyroid Scintigraphy in Congenital Hypothyroidism Screening Program, Journal of Tropical Pediatrics (2006)
30. The Relation Between Serum and Filter Paper Thyroid-Stimulating Hormone Levels in Neonates With Congenital Hypothyroidism, Journal of Isfahan Medical School (2012)
31. Usefulness of Ultrasonography in the Diagnosis of the Etiology of Congenital Hypothyroidism Comparing With Radioisotope Scanning, Iranian Journal of Endocrinology and Metabolism (2009)
32. Frequency of Thyroid Function Disorders Among a Population of Very-Low-Birth-Weight Premature Infants, Iranian Journal of Neonatology (2016)
33. The Descriptive Findings of Growth Status Among Children With Congenital Hypothyroidism Referred to Isfahan Endocrine and Metabolism Research Center, Journal of Isfahan Medical School (2012)
34. Screening of Congenital Hypothyroidism in Preterm, Low Birth Weight and Very Low Birth Weight Neonates: A Systematic Review, Pediatrics and Neonatology (2018)
35. Outcome of Congenitally Hypothyroid Screening Program in Isfahan: Iran From Prevention to Treatment, International Journal of Preventive Medicine (2010)
36. The Incidence of Congenital Hypothyroidism and Its Determinants From 2012 to 2014 in Shadegan, Iran: A Case-Control Study, Epidemiology and health (2016)
37. Prevalence of Congenital Hypothyroidism in Isfahan, Iran: Results of a Survey on 20,000 Neonates, Hormone Research (2004)
38. Evaluation of the Tsh Threshold in Neonatal Screening for Congenital Hypothyroidism, Journal of Isfahan Medical School (2012)
39. Genetic Analysis of Ttf2 Gene in Congenital Hypothyroid Infants With Thyroid Dysgenesis, Pakistan Journal of Medical Sciences (2013)
40. Von Willebrand Factor, and Soluble Intercellular and Vascular Cell Adhesion Molecules As Indices of Endothelial Activation in Patients With Congenital Hypothyroidism, Hormone Research in Paediatrics (2011)
41. The Role of Maternal Thyroid Stimulating Hormone Receptor Blocking Antibodies in the Etiology of Congenital Hypothyroidism in Isfahan, Iran, International Journal of Preventive Medicine (2012)
42. Congenital Hypothyroidism in Different Cities of the Isfahan Province: A Descriptive Retrospective Study, Journal of Education and Health Promotion (2019)
43. Age of Menarche and Final Height in Patients With Permanent Congenital Hypothyroidism, Annals of Pediatric Endocrinology and Metabolism (2024)
44. Hearing Impairment in Congenitally Hypothyroid Patients, Iranian Journal of Pediatrics (2012)
45. Prevalence of Concurrent Congenital Disabilities in Infants With Congenital Hypothyroidism: A Systematic Review, Journal of Pediatrics Review (2024)
46. Prevalence of Transient Congenital Hypothyroidism in Central Part of Iran, Journal of Research in Medical Sciences (2013)
47. Congenital Cardiac Malformations in Congenital Hypothyroid Patients in Isfahan, Journal of Research in Medical Sciences (2006)