Short Stature

• Normal Growth: Represents the final common pathway influenced by multiple factors such as genetic, endocrine, nutritional, and psychological elements.
• Stature: Has a significant impact on an individual's psychological, social, and potential economic well-being.

Definition of Short Stature

• Short Stature: Defined as a height less than the 3rd percentile for age and gender-matched normal values.
• Growth Rate: Considered short if the growth rate is less than the 5th percentile.
• Mid-Parental Height: Short stature may also be defined as a person being below the 5th percentile for their mid-parental height.

• Length: Measured in children below 2 years or those who cannot stand erect, using an infantometer.
• Height: Measured using a stadiometer.
• Difference between Length and Height: Typically around 1.25 cm.
• Upper/Lower Segment Ratio: Involves sitting height.
• Arm Span: Measurement from fingertip to fingertip with arms extended horizontally.

Mid-Parental or Target Height Calculation

• For Boys: (Father's Height + Mother's Height) / 2 + 6.5 cm
• For Girls: (Father's Height + Mother's Height) / 2 - 6.5 cm
• Target Height Range: The resultant figure ± 8 cm provides the expected height range for the child.

Incorrect Height Measuring Techniques

• Doctor's line of sight not at eye level: Measurement should be taken with the doctor's eyes level with the height indicator to avoid parallax error.
• Doctor using floppy arm device: A rigid measuring arm or board should be used for accurate measurements.
• Child's back not against board: The child's back should be flat against the board or wall for proper measurement.
• Child's hairpiece not removed: Hair accessories can alter the height measurement; they should be removed.
• Child's socks still on: Socks can affect the height measurement; the child should be barefoot.

• Variations of Normal:
  • Familial short stature
  • Constitutional delay in growth and puberty
• Type 1 Small for Gestational Age (SGA)
• Chronic Malnutrition
• Skeletal Dysplasias:
  • Osteogenesis imperfecta
• Endocrine Disorders:
  • Growth hormone deficiency (GHD):
    • Congenital (isolated or combined with other anterior pituitary hormone deficiencies)
    • Acquired (due to tumors, radiation, cerebrovascular accidents (CVAs), hydrocephalus)
  • Laron's dwarfism (↑GH, ↓IGF-1)
  • Hypothyroidism
  • Cushing's syndrome
  • Poorly managed diabetes mellitus
  • Congenital adrenal hyperplasia (CAH)
• Genetic Syndromes:
  • Turner syndrome
  • Down syndrome
  • Trisomy 13 and 18
  • Prader-Willi syndrome
• Failure to Thrive (FTT) Causes:
  • Congenital heart disease (CHD)
  • Malabsorption
  • Coeliac disease
  • Chronic renal failure (CRF)
  • Juvenile rheumatoid arthritis (JRA)
  • AIDS
  • Tuberculosis (TB)
  • Malignancy
• Hematologic Disorders:
  • Sickle cell anemia (SCA)
  • Thalassemias
• Psychological Dwarfism

History

• Family history of short stature or delayed growth
• Growth pattern and developmental milestones
• History of chronic illnesses, nutritional status, psychosocial environment
• Medications or treatments (e.g., chemotherapy, radiation)
• Birth history, including gestational age and birth weight
• History of endocrine disorders or syndromes

Physical Examination

• Measure height (ht), weight (wt), arm span, and sitting height
• Assess body proportions (e.g., upper/lower segment ratio)
• Look for dysmorphic features or signs of genetic syndromes
• Examine for signs of malnutrition or chronic illness
• Check for pubertal development status

Investigations for Short Stature

• Bone Age Assessment: X-ray of the left hand and wrist to determine if bone age matches chronological age.
• Thyroid Function Tests (TFT): T3, T4, TSH levels to evaluate for hypothyroidism or other thyroid disorders.
• Growth Hormone Stimulation Tests: GH levels to assess growth hormone function.
• Insulin-like Growth Factor 1 (IGF-1) and IGFBP-3 Levels: To evaluate growth hormone activity.
• Complete Blood Count (CBC): To check for anemia or other hematological abnormalities.
• Erythrocyte Sedimentation Rate (ESR): To assess inflammation.
• Metabolic Panel: To evaluate overall metabolic status.
• Liver and Renal Function Tests: To assess liver and kidney function.
• Karyotype Analysis: Especially in females to rule out chromosomal abnormalities like Turner syndrome.
• Imaging Studies: MRI or CT of the brain if pituitary/hypothalamic pathology is suspected.
• Celiac Disease Screening: Anti-tissue transglutaminase antibodies to check for celiac disease.
• Stool Examination: To identify signs of malabsorption or parasitic infections.
• Urinalysis: To detect renal problems or infections.
• Serum Electrolytes and Urea (E & U): To assess kidney function and electrolyte balance.
• Other Tests: As indicated based on clinical findings, such as tests for malabsorption, chronic renal disease, or skeletal dysplasias.

• Treat Underlying Cause: Address any specific medical conditions contributing to short stature, such as malnutrition, hypothyroidism, chronic illnesses, or psychosocial factors.
• Growth Hormone (GH) Therapy: Indicated for growth hormone deficiency (GHD) and certain resistant states, such as Turner syndrome, chronic renal insufficiency, and idiopathic short stature. GH therapy aims to promote growth and achieve an adult height within the normal range for age and sex.