[Differential diagnosis in children with small stature].

BACKGROUND

Physiological growth is a sensitive long-term indicator of child health. Impaired growth of children may be the first manifestation of a serious chronic disease. In order to find a rational examination procedure, the authors analyzed retrospectively the diagnosis in children with impaired growth who were referred for examination to the university hospital.

METHODS AND RESULTS

In the course of 5.5 years 190 children (boys/girls, 124/66) with short stature, age 2.5 to 16.5 years were examined. In 93 (68/25, 48.9%) the condition was classified as short-normal, i.e. short but healthy, incl. 25 (11/14, 13.2%) with familial short stature, in 26 (21/5, 13.7%) constitutional growth retardation (and retarded puberty) and in 42 (36/6, 22.1%) a combination of the two conditions. In 97 children (56/41, 51.1%) a pathological condition was found: in 14 girls (7.4%) Turner's syndrome, in 55 children (37/18, 29.0%) deficiency of growth hormone, incl. 11 as a results of a tumour or anomaly of the CNS, and in 28 children (19/9, 14.7%) another serious cause of a growth disorder. In three families the authors detected an autosomal dominant disorder in a parent-child pair, the parent not being aware of the disorder (renal tubular acidosis, vitamin D resistant rickets, hypochondroplasia). Based on analysis of these data the authors suggest a rational differential diagnostic procedure in children with short stature.

CONCLUSIONS

The stepwise examination of children with short stature is based on the unequivocal differentiation of short-normal children and assessment of the cause of the growth disorder in the other affected children. The procedure is focused on a sparing, rapid and accurate diagnosis with subsequent early treatment of children with a serious pathological condition.