| Cause |
Clinical Features |
Investigations |
Management |
| Familial Short Stature |
Short stature in the context of family history; normal growth velocity and puberty, bone age consistent with chronological age. |
Growth charts, bone age assessment, review of family growth patterns, normal hormone levels. |
Reassurance and monitoring; no treatment typically required. |
| Constitutional Delay of Growth and Puberty |
Short stature with delayed puberty, often with a family history of similar pattern; normal growth velocity. |
Growth charts, bone age (delayed but matches height age), normal hormone levels, normal nutritional status. |
Reassurance and monitoring; growth usually normalizes with the onset of puberty. |
| Growth Hormone Deficiency |
Proportionate short stature, increased fat mass, immature facial features, slow growth velocity, delayed bone age. |
Serum IGF-1, growth hormone stimulation tests, MRI of the brain (to assess the pituitary gland), bone age assessment. |
Growth hormone replacement therapy, regular monitoring of growth and development. |
| Turner Syndrome (45,X) |
Short stature, webbed neck, lymphedema of hands/feet, widely spaced nipples, primary amenorrhea, infertility, and normal intelligence. |
Karyotype analysis, echocardiogram, renal ultrasound, thyroid function tests, bone age assessment. |
Growth hormone therapy, estrogen replacement therapy, management of associated conditions (e.g., cardiac, renal), psychological support. |
| Chronic Systemic Diseases (e.g., Celiac Disease, Chronic Kidney Disease) |
Short stature with symptoms related to the underlying condition (e.g., diarrhea in celiac disease, fatigue in chronic kidney disease). |
Specific tests based on suspected condition (e.g., tissue transglutaminase antibodies for celiac disease, renal function tests, inflammatory markers), growth charts. |
Treatment of the underlying disease, nutritional support, hormone therapy if indicated. |
| Hypothyroidism |
Slow growth, delayed bone age, fatigue, weight gain, constipation, dry skin, bradycardia. |
Serum TSH and free T4 levels, bone age assessment, thyroid ultrasound if nodules are suspected. |
Thyroid hormone replacement therapy (levothyroxine), regular monitoring of growth and thyroid function. |
| Intrauterine Growth Restriction (IUGR) or Small for Gestational Age (SGA) |
Low birth weight or length, often normal growth velocity postnatally but may result in permanent short stature. |
Growth charts, birth history review, assessment for catch-up growth by age 2. |
Monitoring of growth, growth hormone therapy if no catch-up growth by age 2-4, nutritional support. |
| Skeletal Dysplasias (e.g., Achondroplasia) |
Disproportionate short stature, characteristic facial and skeletal features, normal intelligence. |
Clinical genetic assessment, X-rays of the skeleton, genetic testing for specific mutations. |
Supportive care, orthopedic management, genetic counseling, monitoring for complications. |