Purpose: To screen variants of the thyroid stimulating hormone receptor (TSHR ) gene among congenital hypothyroidism (CH) patients.
Patients and Methods: We conducted a genetic screening of the TSHR  gene in a cohort of 125 Chinese CH patients. Variants were detected by customized targeted next-generation sequencing.
Results: A total of 11 TSHR  missense heterozygous variants were identified in 14 CH patients. Six variants were in the transmembrane domains, four variants were in the leucine-rich repeats and one variant was located in the hinge region of the TSHR protein. p.F525S was the most prevalent variant with an allele frequency of 0.016, followed by p.R450H with an allele frequency of 0.012. The allele frequency of most variants was higher in our cohort than those of other populations.
Conclusion: The prevalence of TSHR  variants was 11.2%. Variant p.F525S was the most prevalent variant with an allele frequency of 0.016. The prevalence of TSHR  variants was different from other populations.
Keywords: congenital hypothyroidism, thyroid stimulating hormone receptor, variant, prevalence