Height < 3rd centile or > 2 SDs below the median height for age and gender (<-2 SD) according to the population standard.
Classification
- Constitutional/familial
- 2-3 SD
- Pathological
- < -3 SD
Etiology
Physiological causes:
- Familial short-stature
- Constitutional short stature
- History of delayed puberty and delayed height spurt usually present in one or both parents
Pathological causes:
- Undernutrition (M/C cause in India)
- Chronic systemic illness:
- Cerebral palsy
- Congenital heart disease, cystic fibrosis, asthma
- Malabsorption (celiac disease, chronic liver disease)
- AIDS, etc
- Endocrine causes:
- Growth hormone deficiency/insensitivity
- Hypothyroidism
- Pseudohypothyroidism
- Cushing syndrome
- Precocious/delayed puberty
- Psychosocial dwarfism/Emotional-deprivation dwarfism/Maternal-deprivation dwarfism/Hyperphagic short stature,
- Characterised by:
- ↓ IGF-1 levels
- Inadequate response of GH to stimulation
- Characterised by:
- Children born small for gestational age (SGA)
- Skeletal dysplasias:
- Achondroplasia
- Rickets
- Genetic syndromes:
- Turner syndrome
- Down syndrome
Assessment
Accurate height measurement
- < 2 years: Supine length (infantometer)
- Older children: Standing height (stadiometer)
Assessment of height velocity
↓ Height velocity indicates pathological cause
- 1st year: 25 cm/yr
- 4-9 year (peripubertal children): 4-6 cm/yr
- Puberty: 10-12 cm/yr
Comparison with population
Comparison with child’s own genetic potential
- Mid-parental height (MPH)
- Value plotted on growth chart at 18-20 yr age (adult equivalent)
- Boys: [Mom + dad (cm)/2] + 6.5 cm
- Girls: [Mom + dad (cm)/2] – 6.5 cm
Assessment of body proportion
- Upper segment (US):(LS) Lower segment ratio
- Birth: 1.7
- 3 years: 1.3
- 6 years: 1.1
- 10 years: 1
- Adults: 0.9
- Arm span relative to height
- Birth: 2.5
- 11 years: Equal to height
- Adult: <1 cm greater than height
Sexual Maturity Rating (SMR)
Diagnosis
Level 1 (essential) investigations
- Complete hemogram + ESR
- Bone age
- Delayed compared to chronological age
- All pathological causes of short stature
- Equal to chronological age
- Familial short stature
- Exceeds chronological age
- Precocious puberty
- Delayed compared to chronological age
- Urinalysis:
- Microscopy, osmolality and pH
- Stool examination
- For parasites, steatorrhea and occult blood
- Blood urea, creatinine, bicarbonate, pH, calcium, phosphate, alkaline phosphatase, fasting glucose, albumin and transaminases
Level 2 investigations
- Serum thyroxin, TSH
- Karyotype in girls (to rule out Turner syndrome)
Level 3 investigations
- Celiac serology:
- Antiendomysial, anti-tissue transglutaminase antibodies
- Provocative growth hormone testing
- Serum insulin-like growth factor-1, and insulin-like growth factor binding protein-3 levels
- MRl brain (focussed on pituitary and hypothalamus)
- For those with low peak growth hormone levels
Differential diagnosis
Feature | Constitutional growth delay | Familial short stature |
Height | Short | Short |
Height velocity | Normal | Normal |
Family history | Delayed puberty | Delayed puberty |
Bone age | Less than chronological age | Normal |
Puberty | Delayed | Normal |
Final height | Normal | Low but normal for target height |
Management
General measures:
- Parents counselling
- Dietary management:
- Balanced diet
- Dietary rehabilitation
Specific treatments:
- Bone dysplasias:
- Limb-lengthening procedures
- Hypothyroidism:
- Levothyroxine replacement
- Growth-hormone deficiency:
- GH therapy