2Department of Pediatrics, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia
Background: Short stature is one of the most common findings in Turner syndrome. There are two types of Turner syndrome based on karyotype: classical and mosaic. It is often marked by the body disproportion and dysmorphic profile of the patients. There are still not many data available regarding upper lower body segment ratio (U/L body segment ratio) in Turner syndrome patient in Indonesia. This study aims to show the profile of height and U/L body segment ratio and whether there is any significant difference based on their karyotype in Turner syndrome patients in Indonesia.
Methods: Samples were taken from Endocrine Out-Patient Clinic at Cipto Mangun Kusumo National Hospital. Weights, heights, and sitting heights were measured. The heights were plotted into CDC growth curve and Turner syndrome growth curve. The upper-lower body segment ratio was measured and plotted into the U/L body segment ratio curve. The significance of the difference in the height and the U/L body segment ratio between classical and mosaic karyotype were measured using independent T test.
Results: Out of 21 samples, 8 were having classical karyotype and 13 were having mosaic karyotype. Seven of these received growth hormone (GH) and 14 did not. Six of the subjects who received GH were having short stature. Almost all of the subjects were having short stature (85.7%) based on CDC growth curve (<3 percentile CDC curve), except for 2 subjects with mosaic karyotype (both subjects were at 7 percentile CDC curve) and 1 subject with classical karyotype (at 4 percentile CDC curve) with normal height (14.3%). Two of these subjects did not receive growth hormone (GH). The upper-lower body ratio in all samples was increased. There was no significant difference of the U/L body segment ratio (P > 0.05) and height (P > 0.05) between classical and mosaic karyotype.
Conclusion: Short stature was found in 85.7% of the subjects. The upper/lower body ratio in adolescents with Turner syndrome in Indonesia was found to be increased. Body height and U/L body segment ratio were not significantly different between classical and mosaic karyotype. In this study, apparently, subjects who obtained GH therapy were still unable to attain a normal height and a normal U/L body segment ratio.
Keywords: karyotype, upper lower body segment ratio, height, growth hormone therapy
19 - 21 Sep 2019
European Society for Paediatric Endocrinology