Background: Short stature and gonadal dysgenesis are the main characteristics in Turner syndrome (TS). There are conflicting reports about the body proportions in TS. Some studies described a proportionate short stature, whereas others reported disproportionately short legs. It is known that body proportions are genetically controlled and are different in different populations or ethnic groups.
Objective and hypotheses: To evaluate body proportions assessed by sitting height/height ratio in patients with TS with respect to national standards.
Method: Ninety-two patients with TS were reviewed retrospectively. Disproportionate short stature was defined as sitting height (SH)/height (H) SDS>2 SD above the mean for age and sex with respect to national standards.
Results: The mean age of the patients was 11.9±2.9 years (range:6.017.7 years). The mean HSDS and SHSDS at presentation was −3.6±1.2 and −3.4±1.1 retrospectively. The frequency of abnormal body proportion at presentation was 15.3%. Karyotype distribution was 45,X in 52%; mosaicsm in 28% and structural abnormalities in 20%. There was no difference in the body proportions according to karyotypes. The mean age of the onset of puberty (spontaneous and induced) was 14.5±2.1 years and 22% of TS had spontaneous puberty. Thirty-two patients reached adult height. Twenty-two of them had been treated with GH. The frequency of abnormal body proportion at adult height was 9.4%. Treatment with GH did not influence the body proportion. The frequency of abnormal body proportion was similar in patients who reached adult height with or without GH (9.1 and 10% respectively).
Conclusion: The frequency of abnormal body proportion was low in our patients with TS. We could not find a confounding factor for disproportion.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology