Pediatria pre prax 4/2019
Idiopathic short stature
The growth of a child is a complex process conditioned by the interplay of several external and internal processes. While in the past the growth hormone axis – IGF-I – growth cartilage was considered to be the main regulatory mechanism of linear growth, in the light of new knowledge growth cartilage becomes the center of attention. The short stature has a child that grows below 3. percentile, or its growth velocity is below 25. percentile for age and gender. Idiopathic short stature (ISS) is a diagnosis per exclusionem and covers a hetero- genous group of growth disorders, including normal variants of short stature – familial short stature and constitutional delay of growth and puberty. ISS accounts for up to 80 % of all growth disorders and in the past most of children had no pathological deviations from the general population – these children were considered short in growth but healthy. Development of new generation sequencing methods has helped to discover new genes (SHOX, FGFR3, NPR2, ACAN), which are important for the function of cartilage growth and their dysfunction causes development of severe bone dysplasias, while their mild and borderline forms can be assessed as ISS or familial short stature.
Keywords: short stature, causes of the short stature, idiopathic short stature, growth hormone treatment
