ABSTRACT
Objective To explore the etiology and clinical characteristics of short stature. Method Clinical data of 2075 children with short stature treated from May 1995 to July 2017 were retrospectively analyzed. The etiology and morbidity of pathological short stature and normal variant short stature were analyzed. The clinical characteristics of growth hormone deficiency (GHD) , idiopathic short stature (ISS) , constitutional delay in growth (CDG) and familial short stature (FSS) were analyzed. The etiological differences between severe short stature [height standard deviation score (SDS) ≤-3] and general short stature (height SDS＞-3) were analyzed. Results Among 2075 children diagnosed with short stature, 1719 (82.84％) were pathological short stature, among which GHD (38.60％) and ISS (22.02％) were more common. Normal variant short stature was found in 356 children (17.16％) , with FSS and CDG accounting for 10.70％ and 6.46％ respectively. There were statistically significant differences in the sex ratio, age at initial diagnosis, height SDS, body mass index (BMI) , bone age and bone age delay among children with four common childhood short stature (GHD, ISS, CDG and FSS) (all P＜0.01) . Boys were more than girls in four kinds of childhood short stature. The height SDS was the lowest in GHD group and the highest in CDG group; BMI was highest in GHD group, but lower in CDG and ISS group. Bone age delay was highest in GHD group and lowest in CDG group. In severe short stature group, the rates of complete GHD, multiple pituitary hormone deficiency, small for gestational age infant, Turner syndrome, hypothyroidism and Russell-Silver syndrome were higher than those in general short stature group, but the rates of partial GHD, ISS, FSS and CDG was lower than those in general short stature group. Conclusion The etiology of short stature is complex. Analysis of the etiology and clinical features is helpful for clinical diagnosis and treatment.