Spectrum of extrathyroidal congenital malformations in a cohort of North Indian children with permanent primary congenital hypothyroidism

Devi Dayal, Rajendra Prasad, Savita Bhunwal, Rakesh Kumar, Rohit Manoj Kumar, Kushaljit Singh Sodhi

Thyroid Research and Practice 2017 14(1):8-11

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 in 6 (5.5%), hypothyroidism with eutopic gland in 5 (4.7%), and dyshormonogenesis in 16 (15%) patients. Seven (7.42%) patients had associated ECMs. The majority (4, 3.7%) of ECMs were cardiac (ventricular septal defect in two patients and patent ductus arteriosus and transposition of great arteries in one each), while skeletal (congenital talipes equinovarus in two and hemivertebra in one patient) and genitourinary (splitting of the pelvicalyceal system in two patients) anomalies were seen in 3 (2.8%) and 2 (1.8%) patients, respectively. Conclusion: The prevalence of ECMs in children with permanent CH was much lower as compared to other cohorts from India. Further studies are needed to determine the underlying genetic and environmental factors to explain the drastic regional differences in the prevalence of ECMs in CH.

http://ift.tt/2m6ei2g