hrp0092p1-429 | Thyroid (2) | ESPE2019

Genetic Evaluation of Congenital Hypothyroidism with Gland-In-Situ Using Targeted Exome Sequencing

Hyun Shin Jung , Young Kim Hye , Mi Kim Young , Lee Heirim , Hye Bae Mi , Hee Park Kyung , Lee Sae-Mi , Jung Kwak Min

Objective: To analyze the genetic cause of congenital hypothyroidism by targeted exome sequencing in pediatric patients with congenital hypothyroidism with thyroid gland in situ.Patient and Method: The study population comprised 20 patients with thyroid gland, who were diagnosed with congenital hypothyroidism at Pediatric Endocrinologic Clinic of Pusan National University Hospital. Targeted exome sequencing was ...