This document discusses the approach to assessing and diagnosing short stature in children. It defines short stature and lists common etiological factors like malnutrition, endocrine disorders, genetic syndromes, and chronic diseases. The assessment process involves accurate height measurement, body proportion assessment, height velocity evaluation, and mid-parental height calculation. Diagnosis is based on history, examination, and initial investigations screening for common causes. Distinguishing features of constitutional delay versus familial short stature are provided. Management focuses on treating underlying causes, counseling, diet, and medical or surgical interventions.

1. Approach to Short Stature
Dr. Nagendra Chaudhary
MD Pediatrics (AIIMS, New Delhi)

2. Definition
Height <3rd Centile or more than 2 SD
below the median height for that age and sex
according to the population standard
Height >1.5 SD below the mid-parental height (MPH)
Fall in growth velocity below the 25th percentile

3. Etiological factors
• Physiological- Familial/Constitutional
• Pathological
Chronic under-nutrition
Systemic diseases
- Renal: CKD, RTA
- Cardiopulmonary: CHD
- GI: Celiac diseases, cystic fibrosis
- Liver: Chronic liver disease
Chronic infections: HIV, TB, UTI
Endocrine: GH deficiency, hypothyroidism, Cushing disease
Psychological dwarfism
SGA babies
Skeletal dysplasia: Achondroplasia, Rickets
Genetic syndromes: Down syndrome, Turner syndrome, Noonan/PWS

4. Assessment steps in a child
1) Accurate height measurement
a. <2 years Infantometer
b. >2 years Stadiometer

5. 2. Body proportion measurement:
- US/LS ratio
- Arm span
Measurement???
Interpretation???
Assessment steps in a child

6. 3. Assessment of height velocity
- rate of increase of height over a period of
time (cm/year)
4. Calculation of mid-parenteral height
MPH= (Father`s height +mother`s height)/2 ±
6.5
(add for boys and subtract for girls)
Assessment steps in a child

7. Diagnosis
(based on history, clinical examination and investigations)
Clues to diagnosis based on history
History Etiology
Low birth weight SGA
Polyuria CKD, RTA
Diarrhea, greasy foul smelling stool Malnutrition, cystic fibrosis
Neonatal hypoglycemia, jaundice, micropenis GH deficiency
Lethargy, constipation, weight gain Hypothyroidism
Dietary intake Under-nutrition
History for timing of puberty in parents Constitutional delay

8. • Clues to diagnosis based on examination
Diagnosis
(based on history, clinical examination and investigations)
Examination Etiology
Disproportionate Skeletal dysplasia, rickets, hypothyroidism, achondroplasia
Dysmorphism Congenital syndromes
Pallor Chronic anemia, malnutrition
Hypertension Chronic renal failure
Frontal bossing, depressed nasal
bridge, crowded teeth, small penis
GH deficiency
Goiter, coarse skin Hypothyroidism
Obesity Hypothyroidism, Cushing syndrome, PWS
Metacarpal shortening Turner syndrome
Mental retardation Hypothyroidism, PWS, Down syndrome, Turner syndrome

9. Clues to diagnosis based on examination

10. • Clues to diagnosis based on investigations
Diagnosis
(based on history, clinical examination and investigations)
Level 1 CBC, ESR
Bone age
Urine microscopy, osmolarity, PH
Stool for parasites, steatorrhea, and occult blood
Blood- urea, creatinine, venous gas, calcium, phosphate, RBS,
albumin, LFT
Level 2 TFT (to rule out hypothyroidism
Karyotyping (to rule out turner syndrome/down syndrome
Level 3 Celiac serology (anti-endomyseal or anti- TTG antibodies and
duodenal biopsy
GH stimulation test

11. Comparison of Constitutional delay
and familial short stature
Features Constitutional Familial
Height Short Short
Height velocity Normal Normal
Family history Of delayed puberty Of short stature
Bone age Delayed (BA<CA) Normal (BA=CA)
Puberty Delayed Normal
Final height Normal Low but normal for
targeted height

12. Management
• Counseling of parents and dietary advice
• Treating the underlying cause
Undernutrition Dietary rehabilitation
Celiac disease Avoidence of gluten diet
Renal tubular acidosis Medical treatment
Skeletal dysplasia Limb lengthening procedures
Hypothyroidism levothyroxine
GH deficiency GH therapy

13. Thank You