Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing

OBJECTIVES: genes in the etiology of TCH. The aim of our study is to evaluate the genetic etiology of TCH. METHODS: A total of 54 patients from 50 families with TCH were included the study. The age at diagnosis, age at time of drug discontinuation, gender, consanguinity, the presence of additional examination findings, venous fT4 and TSH levels at the time of diagnosis, at time of drug discontinuation and at the last visit, the follow-up data and genetic characteristics were obtained from records. RESULTS: variants (c.1060C>T, c.1547G>A, c.2597T>G, c.3314T>C, c.3382C>A, c.3509A>C, c.3790A>G, c.4445C>T, c.28del, c.533G>T) were identified in 11 patients (2 homozygous, 3 compound heterozygous, and 6 heterozygous). CONCLUSIONS: genes that expand their mutational spectrum. These findings support the need for incorporating molecular analysis into the diagnostic evaluation of TCH, not only to improve our knowledge of its genetic underly, but also to provide valuable insights for long-term follow-up, family counseling, and personalized management strategies.