Causes of Short Stature
Primary Causes:
- Genetic (Familial) Short Stature (Normal Variant)
- Growth hormone deficiency
- Constitutional (Normal Variant)
Secondary Causes:
- Small for gestational age
- Syndromes (e.g., Laron Syndrome)
- Endocrinopathies (e.g., Hypothyroidism, growth hormone deficiency, hypoparathyroidism)
- Social deprivation (psychosocial dwarfism)
- Nutritional deficiency: Undernutrition (marasmus, Kwashiorkor, anorexia nervosa, zinc deficiency)
- Psychosocial dwarfism: Extreme emotional deprivation can result in failure to thrive with short stature
- IUGR (intrauterine growth restriction) or small for gestational age: Patient will remain short if they did not catch-up their growth by age 2 years.
- Systemic disease/Chronic illness (anemia thallasemia crohn diabetes)
- Chromosomal abnormalities/genetic syndromes: Turner Syndrome, Prader-Willi Syndrome, Noonan syndrome
- Skeletal dysplasia: achondroplasia
- Endocrinopathy: thyroid hormone deficiency, growth hormone deficiency, Cushing Syndrome
- SHOX gene