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Majority of
patients with Short Stature come under following groups:
- Constitutional Growth Delay - 98 %
- Growth Hormone defficiency - 0.1 %
- Hypothyroidism - 0.2 %
- Systemic diseases - 0.3 %
- Chromosomal disorders - 0.1 %
- Bone Cartilage Dysplasia - 0.3 %
- Psycho social disorders - 1 %
Important Causes of Short Stature
Clinically, syndromes of Short Stature
present with specific physical findings which may aid in
diagnosing the illness, like -
Growth Hormone deficiency
- Frontal bossing, Central Obesity, High pitched voice.
Hypothyroidism - Dry skin, coarse hairs,
immature facies
Cushing syndrome - Striae, central
obesity, hypertension
Gonadal dysgenesis - Delayed sexual
development, webbed neck, multiple pigmented navi, shield
chest
Pseudohypoparathyroidism - Mental
retardation, moon facies, obesity, short metacarpals.
Bone Cartilage dysplasia - Abnormal
proportions, macrocephaly
Russell Silver Dwarfism - Small at
birth, pointed facies, asymmetry
To reach the final diagnosis
regarding the cause of the short stature in an individual
detailed history and clinical examination is important
followed by some screening tests which may pin point the
actual cause of short stature. Some of these test are -
Serum thyroxine - hypothyroidism
Serum GH levels, IGF-I, IGFBP-3 - Growth hormone
deficiency
Serum calcium - Pheusohypoparathyroidism
Serum phosphate - Vitamine D resistant Rickets
Serum bicabonate - Renal tubular acidosis
Blood urea nitrogen - Renal failure
Complete Blood count - Anaemia, nutritional disorders,
infalmmatory diseases
Bone age - Hypothyroidism, GH deficiency, Constitutional
delay
Chromosomal karyotype - Gonadal dysgenesis and other
abnormalities
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