Uncommon clinical features of juvenile primary hypothyroidism

Abstract

This case study presents an 18-year-old boy with severe short stature and distinct physical features, including facial abnormalities, skeletal deformities, and intellectual impairment. Further investigations revealed hypothyroidism, autoimmune thyroiditis, and delayed bone age. Treatment with levothyroxine replacement therapy was initiated. The study highlights the importance of detection and management of hypothyroidism in individuals with short stature and associated features.