Chromosomal anomalies in patients with short stature

The incidence of chromosomal anomalies in patients with short stature (SS) was studied in order to determine the value of routine karyotyping in this population.

This study was a retrospective evaluation of 972 patients (719 females and 253 males) with SS. Chromosomal analysis was performed on cultured peripheral lymphocytes.

The incidence of chromosome aberrations in males was 2.77% (7/253) and in females 9.8% (71/719). Several groups were made according to clinical features and familial antecedents of SS. We observed different incidence rates of chromosomal anomalies among groups of patients, mainly in females. The incidence in the group without familial antecedents was 18.89%, however, in females with familial antecedents it was 4.45%. In females with isolated SS we detected karyotype anomalies in the 3.98%, while in patients with phenotypic features, amenorrhoea and SS the incidence was 77.78%. In females the most frequent anomaly was Turner syndrome, present in 55 patients (77.46%).

Karyotype analysis is recommended for all girls with unexplained SS and associated abnormalities. In females with isolated SS a cost-benefit analysis must be done in each case.