Introduction: Short stature, defined as body height below the 10th percentile (<-1.2 SDS for sex and age) is often a reason for referring children to the paediatric endocrinology department. The most frequent diagnoses are: CDGP (constitutional delay of growth and puberty), FSS (familiar short stature), GHD (growth hormone deficiency), Turner's syndrome (TS). The aim of the study was an analysis of reasons for short stature and evaluation of the frequency of GHD and TS in short stature children in own clinical material.
Material and methods: 1314 patients with short stature, aged 1 to 18 years (790 boys and 524 girls). Diagnostic procedures included an interview, physical examination, measurements of body weight and height, parents' height. Birth weight and length were analyzed. Anthropometric measurements were done by anthropologist according to current criteria. The values of somatic measurements were normalized according to the Institute of Mother and Child references 2001. Body height deficiency was from -1.2 SDS (10 percentile) to -4.0 SDS (<< 3rd percentile).
Results: 60% boys and 40% girls were in our group, at average age 10.27 +/- 3,84 years. In 246 children (18.7%) growth hormone deficiency was diagnosed: 176 boys and 70 girls. 49 girls had Turner's syndrome, 4 had coeliac disease (0.3%) and 4 boys had Noonan syndrome (0.5% boys). In 1011 children (76.9%) neither somatic disorders nor growth hormone deficiency were diagnosed. In 19% children low birth parameters were observed. No correlation between birth parameters and body height deficiency was observed.
Conclusions: 1. GHD was diagnosed in 18,7% children and Turner's syndrome was diagnosed in 9,4% girls. In the majority of children birth parameters do not determine short stature. 2. Low birth parameters were more frequent in girls with TS than in other children.