Short Stature ~ Cause

Causes of Short Stature

Short Stature is a comparative evaluation of an individual’s height with his genetic background and in relation to that of a large population of a similar genetic background. Growth Failure and Short Stature may not be the same thing. Often these two are confused as the same thing. Short stature is often a normal variant. On the other hand Short Stature may be a sign of a wide variety of pathologic conditions or inherited disorders.

Majority of patients with Short Stature come under following groups:

Constitutional Growth Delay – 98 %
Growth Hormone deficiency – 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

Isolated GH deficiency
Panhypopituitarism
Primary hypothyroidism
Cushing’s syndrome
Achondroplasia- short limbs for spine
Mucopolysaccharidoses- short limbs and very short spine.
Turner’s syndrome
Malabsorption syndromes- Crohn’s disease,Coeliac disease, Colitis
Congenital heart diseases, Intrauterine growth retardation,Systemic illnesses like asthma, renal disease, malnutrition, psychosocial deprivation, Constitutional short stature with normal bone age.

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 – 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, inflammatory diseases
Bone age – Hypothyroidism, GH deficiency, Constitutional delay
Chromosomal karyotype – Gonadal dysgenesis and other abnormalities