Pakistan is a developing country and nutritional deficiency is prevalent in the children.23 33% of children under 5 years of age are underweight, while 53% are stunted.24 Vitamin D deficiency is a present in up to 94% of our children, which can reduce skeletal mineralization and bone growth rate.25 Data from Pakistan on etiology of short stature in children is sparse however existing data shows Constitutional delay and Familial short stature (normal variants of growth) as the major causes.14-16 The current local data is from tertiary health care institutions however our study aims at detecting causes of short stature in children/adolescents presenting to WILCARE Center for Diabetes, Endocrinology and Metabolism, Lahore which is a Endocrine referral center.
This is a trend different from what has been reported in studies globally and other studies regionally where normal variants of growth (constitutional delay of growth and puberty and familial short stature) have been reported as predominant cause either separately or in combination.
Like familial short stature
, these all tend to present in childhood and it is unusual for a doctor or clinic not to pick up the problem as the child grows up.
Familial short stature
and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.
KEY WORDS: Short stature, Constitutional delayed growth and maturation (CDGM), Familial short stature
(FSS), Normal variant short stature (NVSS), Growth hormone deficiency (GHD).
Such patterns may arise from familial short stature
, intrauterine growth retardation, or even breast-feeding.
Although the final height of our patient was 7.5 cm greater than the midparental height, it was still short due to the underlying familial short stature
and the relatively short duration of GH therapy.