Overview/Definition
Definition:
• Short stature in children is defined as height below 3rd percentile for age and gender or height standard deviation score <-2.0
Affects 3-5% of pediatric population with multiple etiologies ranging from normal variants (80-85%) to pathological causes (15-20%) requiring specific interventions.
Epidemiology:
• Prevalence of short stature 3-5% in general population by definition
In India, malnutrition contributes significantly with stunting rates 35-40% in children under 5 years
Growth hormone deficiency incidence 1:3000-4000 children
Turner syndrome affects 1:2500 female births
Constitutional delay affects 2-3% children.
Age Distribution:
• Infancy (0-2 years): Nutrition-dependent growth, catch-up growth patterns
Early childhood (2-6 years): Growth hormone-dependent growth begins
School age (6-12 years): Steady growth 5-7 cm/year, concerns about peer comparisons
Adolescence (12-18 years): Pubertal growth spurt timing crucial.
Clinical Significance:
• Essential topic for DNB Pediatrics and NEET SS examinations focusing on growth evaluation algorithms, diagnostic workup, treatment indications
Understanding growth charts, bone age assessment, hormonal evaluation crucial
Knowledge of growth hormone therapy indications and monitoring important.
Age-Specific Considerations
Newborn:
• Neonates (0-28 days): Birth length reflects intrauterine environment
Small for gestational age (SGA) infants may have catch-up growth potential
Genetic syndromes may be evident
Growth velocity more important than absolute measurements
Maternal factors affecting fetal growth assessment important.
Infant:
• Infants (1-24 months): Rapid growth phase, nutrition-dependent
Catch-up or catch-down growth common
Growth velocity 20-25 cm in first year, 10-12 cm in second year
Failure to thrive evaluation if poor growth
Head circumference important for syndrome recognition.
Child:
• Children (2-12 years): Growth hormone-dependent growth
Steady growth velocity 5-7 cm/year
Comparison with peers becomes important
School performance may be affected
Detailed growth history and parental heights crucial
Bone age assessment becomes reliable.
Adolescent:
• Adolescents (12-18 years): Pubertal growth spurt timing variable
Constitutional delay of growth and puberty common
Final height predictions possible
Psychological impact significant
Treatment window for growth hormone therapy limited
Adult height achievement focus.
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Clinical Presentation
Symptoms:
• Primary concern: Height below peers, clothes not fitting age-appropriate sizes
Associated symptoms vary by etiology: Fatigue, poor appetite in malnutrition
Headaches, visual changes in CNS tumors
Polyuria, polydipsia in diabetes
Cold intolerance in hypothyroidism.
Physical Signs:
• Anthropometric measurements: Height <3rd percentile, low height velocity <5 cm/year after age 2
Body proportions: Normal in GH deficiency, abnormal in skeletal dysplasias
Dysmorphic features: Turner syndrome, Prader-Willi syndrome
Nutritional signs: Wasting, stunting patterns.
Severity Assessment:
• Mild short stature: Height 3rd-10th percentile, normal growth velocity
Moderate: Height <3rd percentile, growth velocity 4-5 cm/year
Severe: Height <1st percentile, growth velocity <4 cm/year
Pathological: Associated systemic symptoms, dysmorphic features.
Differential Diagnosis:
• Normal variants: Constitutional delay of growth and puberty, familial short stature
Pathological causes: Growth hormone deficiency, hypothyroidism, chronic diseases, genetic syndromes
Psychosocial: Neglect, psychosocial dwarfism
Medications: Chronic steroid use.
Diagnostic Approach
History Taking:
• Growth history: Birth weight/length, growth patterns, previous growth measurements
Family history: Parental heights, growth patterns, delayed puberty
Medical history: Chronic diseases, medications, surgeries
Nutritional assessment: Dietary intake, feeding problems
Psychosocial factors.
Investigations:
• Basic screening: Complete blood count, comprehensive metabolic panel, ESR, thyroid function tests
Growth-specific: IGF-1, IGFBP-3, bone age X-ray
Second-tier: Growth hormone stimulation tests, karyotype (girls), celiac antibodies
Imaging: Brain MRI if GH deficiency suspected.
Normal Values:
• Normal height velocity: >5 cm/year after age 2, >4 cm/year after age 10
IGF-1: Age and gender-specific percentiles
Normal bone age: Within 2 years of chronological age
Growth hormone peak: >10 ng/ml on stimulation testing
Target height: Mid-parental height ±8.5 cm (boys), ±6 cm (girls).
Interpretation:
• Height SDS calculation: (Patient height - Mean height for age)/SD for age
Growth velocity assessment over minimum 6-12 months
Bone age interpretation: Delayed in constitutional delay, GH deficiency
IGF-1 screening: Low levels suggest GH deficiency
Stimulation testing: Required for GH deficiency diagnosis.
Management/Treatment
Acute Management:
• Immediate evaluation for underlying causes: Treat hypothyroidism, celiac disease, chronic illnesses
Nutritional rehabilitation if malnourished
Growth hormone therapy initiation if indicated after complete evaluation
Psychosocial support for child and family.
Chronic Management:
• Growth hormone therapy: Indicated for GH deficiency, Turner syndrome, chronic renal failure, SGA without catch-up
Monitoring: Height velocity, IGF-1 levels, side effects
Other treatments: Thyroid hormone replacement, nutritional support
Pubertal induction if indicated.
Lifestyle Modifications:
• Optimal nutrition: Adequate caloric intake, balanced diet, micronutrient supplementation
Physical activity: Age-appropriate exercise, avoid excessive training
Sleep hygiene: Adequate sleep for growth hormone secretion
Psychological support: Counseling for self-esteem issues.
Follow Up:
• Regular monitoring: Height measurements every 3-4 months, annual bone age
Growth hormone therapy monitoring: Monthly initially, then every 3 months
Pubertal assessment: Tanner staging every 6 months during puberty
Final height assessment at skeletal maturity.
Age-Specific Dosing
Medications:
• Growth hormone (somatropin): Standard dose 0.16-0.24 mg/kg/week (0.46-0.7 IU/kg/week) divided into daily subcutaneous injections
Higher doses for Turner syndrome: 0.27-0.3 mg/kg/week
Timing: Evening injection to mimic natural secretion pattern.
Formulations:
• Growth hormone preparations: Various brands available as powder for reconstitution or pre-filled pens
Concentrations: 4 mg, 5 mg, 10 mg, 12 mg cartridges/vials
Storage: Refrigerated, protect from light
Injection devices: Pen injectors for ease of use.
Safety Considerations:
• Contraindications: Active malignancy, acute critical illness, diabetic retinopathy
Side effects: Injection site reactions, headaches, hip problems, scoliosis progression
Monitoring: IGF-1 levels, glucose tolerance, thyroid function
Drug interactions: Insulin requirements may increase.
Monitoring:
• Efficacy monitoring: Height velocity improvement within 6 months, target >7 cm/year first year
Safety monitoring: IGF-1 levels every 3-6 months, annual glucose tolerance test
Imaging: Annual spine X-ray for scoliosis, hip X-rays if pain
Laboratory: Thyroid function, hemoglobin A1c.
Prevention & Follow-up
Prevention Strategies:
• Primary prevention: Adequate maternal nutrition during pregnancy, optimal infant nutrition
Early detection: Growth monitoring at all healthcare visits, plotting on growth charts
Secondary prevention: Early treatment of underlying conditions affecting growth.
Vaccination Considerations:
• Standard immunization schedule maintained
No specific contraindications with growth hormone therapy
Monitor injection sites to avoid vaccine administration in same area
Consider hepatitis B vaccination if growth hormone therapy planned long-term.
Follow Up Schedule:
• Initial intensive monitoring: Monthly for first 6 months of treatment
Routine monitoring: Every 3 months during treatment
Annual assessments: Comprehensive evaluation, bone age, final height predictions
Transition: Adult endocrinology at skeletal maturity.
Monitoring Parameters:
• Growth parameters: Height, weight, growth velocity calculations
Biochemical: IGF-1 levels, glucose tolerance, thyroid function
Skeletal: Bone age assessment, spine imaging
Psychosocial: School performance, peer relationships, quality of life measures.
Complications
Acute Complications:
• Growth hormone therapy complications: Benign intracranial hypertension, slipped capital femoral epiphysis, scoliosis progression
Metabolic: Insulin resistance, glucose intolerance
Local: Injection site reactions, lipohypertrophy
Rarely: Leukemia (controversial association).
Chronic Complications:
• Untreated short stature: Psychosocial impact, reduced quality of life, academic/career limitations
Late diagnosis consequences: Missed growth potential, psychological effects
Overtreatment: Excessive final height, metabolic complications
Long-term GH therapy: Unknown adult health effects.
Warning Signs:
• During treatment: Severe headaches, visual changes, hip pain, rapid scoliosis progression
Metabolic: Excessive thirst, frequent urination
Growth concerns: Poor response to therapy, excessive growth velocity
Injection site: Persistent swelling, induration, infection.
Emergency Referral:
• Immediate referral for: Signs of increased intracranial pressure, hip pain suggesting SCFE
Pediatric endocrinology referral: All cases of pathological short stature
Orthopedic referral: Hip problems, significant scoliosis
Ophthalmology: Visual symptoms during GH therapy.
Parent Education Points
Counseling Points:
• Short stature evaluation identifies treatable causes in 15-20% of cases
Many children have normal variants not requiring treatment
Growth hormone therapy safe and effective when indicated
Realistic expectations about final height improvement
Importance of compliance with treatment.
Home Care:
• Growth hormone injection technique: Proper reconstitution, injection technique, site rotation
Storage: Refrigeration requirements, travel considerations
Monitoring: Height measurements, growth charts maintenance
Nutrition: Balanced diet, adequate calories for growth.
Medication Administration:
• Growth hormone injection: Evening administration, rotate injection sites, proper needle disposal
Missed doses: Give as soon as remembered, do not double dose
Storage: Refrigerate reconstituted hormone, use within specified timeframe
Travel: Maintain cold chain, carry prescriptions.
When To Seek Help:
• Contact healthcare provider for: Poor growth response after 6 months treatment, side effects (persistent headaches, hip pain), injection site problems
Emergency care for: Severe headaches with vomiting, hip pain preventing walking, visual changes, signs of infection at injection sites.