An aetiological profile of short stature in the Indian subcontinent

OBJECTIVE: To determine the aetiological causes of short stature in a developing region of the world. METHODOLOGY: 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. RESULTS: 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. CONCLUSIONS: 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.