An aetiological profile of short stature in the Indian subcontinent

To determine the aetiological causes of short stature in a developing region of the world.

A retrospective analysis was made of data from 193 subjects who were primarily evaluated for short stature in the Endocrinology Department, Institute of Medical Sciences, Kashmir, India. These subjects had a height of more than 3 standard deviations (SD) below the mean for their age and sex, and were seen over a decade (January 1987 to December 1996). A logical and comprehensive clinical and investigative protocol was followed to identify the aetiology of short stature.

Growth hormone deficiency was the commonest identifiable cause of short stature and accounted for 22.8% of cases. Thirty-six subjects (18.7%) had a normal variant short stature. Renal tubular acidosis was diagnosed in 10.4%, primary hypothyroidism, malnutrition and hypothalamic syndrome in 7.8% each, and growth hormone insensitivity syndrome in 4.1% cases.

We conclude that, in addition to growth hormone deficiency and normal variant short stature, distal renal tubular acidosis and growth hormone insensitivity syndrome are significant causes of short stature in India.