Definition of Short Stature
Short stature is defined as a height below the 3rd percentile or more than two standard deviations (SD) below the mean for age and sex on a standard growth chart.
Stepwise Approach to a Child with Short Stature
1. History Taking
A thorough history helps differentiate between normal and pathological short stature.
✅ Birth History:
- Gestational age, birth weight, and length (to assess intrauterine growth restriction or prematurity).
- Maternal health, infections, or substance use during pregnancy.
✅ Family History:
- Parental heights (target height calculation).
- History of delayed puberty or short stature in the family.
✅ Growth Pattern & Nutrition:
- Age at which short stature was first noticed.
- Growth velocity (normal: 5-7 cm/year in early childhood).
- Dietary intake and history of malnutrition.
✅ Systemic Illnesses & Symptoms:
- History of chronic diseases (celiac disease, renal, cardiac, or liver disease).
- Symptoms of hypothyroidism (fatigue, constipation, cold intolerance).
- Symptoms of growth hormone deficiency (hypoglycemia, increased fat deposition).
- Skeletal deformities or joint pain (suggesting rickets or skeletal dysplasias).
✅ Pubertal & Developmental History:
- Any delay in developmental milestones.
- Signs of precocious or delayed puberty.
2. Physical Examination
✅ Anthropometric Measurements:
- Height, weight, BMI, and growth velocity.
- Sitting height vs. leg length (disproportionate short stature suggests skeletal dysplasias).
✅ General Examination:
- Dysmorphic features (Turner syndrome, Noonan syndrome).
- Midface hypoplasia, micrognathia (suggesting growth hormone deficiency).
- Webbed neck, shield chest (Turner syndrome in females).
- Goiter or bradycardia (hypothyroidism).
- Café-au-lait spots (neurofibromatosis, McCune-Albright syndrome).
- Skeletal abnormalities (rachitic rosary, bowing of legs in rickets).
3. Differential Diagnosis of Short Stature
A. Normal Variants (Most common causes)
- Familial Short Stature
- Normal birth weight and height
- Parental short stature
- Normal growth velocity
- Normal bone age
- Constitutional Growth Delay (CGD)
- Delayed bone age
- Family history of delayed puberty
- Catch-up growth in late adolescence
B. Pathological Causes
- Endocrine Disorders (Proportionate Short Stature)
- Growth hormone deficiency (low growth velocity, increased fat, midface hypoplasia)
- Hypothyroidism (fatigue, constipation, cold intolerance, delayed bone age)
- Cushing’s syndrome (central obesity, moon facies, growth failure)
- Turner syndrome (XO karyotype in females, webbed neck, amenorrhea)
- Chronic Systemic Diseases (Proportionate Short Stature)
- Celiac disease (diarrhea, abdominal distension, iron deficiency anemia)
- Chronic renal disease (poor appetite, polyuria)
- Congenital heart disease (cyanosis, clubbing)
- Skeletal Dysplasias (Disproportionate Short Stature)
- Achondroplasia (short limbs, frontal bossing)
- Rickets (bowed legs, widened wrists)
- Genetic Syndromes
- Noonan syndrome (short stature, congenital heart disease, webbed neck)
- Prader-Willi syndrome (obesity, hypotonia, hyperphagia)
4. Investigations
Initial Workup:
✅ Bone Age X-ray (Left Hand & Wrist) → Differentiates constitutional delay vs. pathological causes
✅ Complete Blood Count (CBC), ESR → Rule out chronic infections, anemia
✅ Thyroid Function Tests (TSH, Free T4) → Hypothyroidism screening
✅ IGF-1 & IGFBP-3 → Screening for growth hormone deficiency
✅ Karyotype (if female with short stature) → Rule out Turner syndrome
✅ Celiac Serology (Anti-TTG IgA, total IgA) → Celiac disease
✅ Electrolytes, Calcium, Phosphorus, Alkaline Phosphatase → Rule out rickets
Second-line Workup (if indicated):
✅ Growth Hormone Stimulation Test → Confirm GH deficiency
✅ ACTH & Cortisol Levels → Suspected adrenal insufficiency
✅ MRI Brain → Suspected pituitary/hypothalamic pathology
5. Management
Depends on the underlying cause:
✅ Normal Variants → Reassurance and follow-up with growth monitoring
✅ Endocrine Causes → GH therapy for GH deficiency, levothyroxine for hypothyroidism
✅ Chronic Diseases → Treat underlying condition (e.g., gluten-free diet for celiac)
✅ Turner Syndrome → GH therapy + estrogen replacement later for puberty
✅ Skeletal Dysplasias → Supportive care, orthopedic interventions
Key Takeaways
- Growth velocity is the most important parameter to assess short stature.
- Bone age X-ray is a crucial initial investigation.
- Normal variants (familial short stature, constitutional delay) are the most common causes.
- Endocrine, chronic diseases, and genetic disorders must be ruled out in pathological cases.
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