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 thyroglobuli
