A stepwise approach to evaluating a 6-year-old boy with short stature, including history, physical examination, differential diagnosis, key investigations, and management strategies. Learn how to differentiate normal variants from pathological causes
A 12-year-old girl presenting with short stature and delayed puberty requires a thorough evaluation to determine the underlying cause. Common etiologies include normal variants (constitutional growth delay, familial short stature), endocrine disorders (growth hormone deficiency, hypothyroidism, Turner syndrome), chronic illnesses (celiac disease, CKD, IBD), and genetic syndromes. A stepwise diagnostic approach includes bone age assessment, hormonal tests, and karyotyping when needed. Early identification and targeted management—such as growth hormone therapy, thyroid hormone replacement, or nutritional interventions—can significantly improve outcomes.
