Background: Children with permanent primary congenital hypothyroidism (CH) are at increased risk for extrathyroidal congenital malformations (ECMs) as compared to normal child population. A wide variation in the prevalence of ECMs in CH has been reported previously with the reports from Turkey and India indicating a much higher prevalence (48%–59%) as compared to reports from other countries (2.1%–10.5%). Setting and Design: Pediatric Endocrinology Clinic of a large multispecialty hospital located in Northwest India.
Retrospective study. Materials and Methods: Children diagnosed as permanent primary CH underwent evaluation for associated ECMs using echocardiography and abdominal and pelvic ultrasonography if clinically indicated. Results: The etiological diagnoses in 106 children (52 girls and 54 boys) with permanent CH were thyroid agenesis in 70 (66%), ectopia in 9 (8.5%), hypoplasia…
