XM Wang, HJ Yu, LY Sun, HS Jin, GP Dong, JF Fu, L Liang

Abstract

Objectives: The purpose of this study was to evaluate clinical characteristic of girls with Turner syndrome (TS) and to search for associations between phenotype and birth weight or karyotypes. Subjects and methods: Subjects included 60 TS girls underwent growth hormone (GH) stimulation testing for short stature. All patients performed provocative tests with a combination of at least two of the following: arginine, levo-dopa or insulin. Cytogenetic finding, height, weight, insulin-like growth factor (IGF)-1, IGF-binding protein (IGFBP)-3, peak GH after stimulation were collected. Results: The mean age at diagnosis was 10.9±3.5 years. Thirty-one cases had 45,X, which accounted for 51.7% of total group. The patients were divided into two groups by their karyotypes: 45,X group and miscellaneous karyotypes (MK) group. There were no differences in age at diagnosis, weight, body mass index (BMI), height of their parents, incidence of GH deficiency (GHD), birth weight, basal luteinizing hormone and follicle stimulating hormone levels, IGF-1 and IGFBP-3 levels between two groups. However, height standard deviation scores (SDS) at diagnosis were -4.13±1.44, -3.12±1.3 for 45,X and MK group respectively (P=0.014). The incidence of ovaries absence in 45,X group was higher than MK group (33.3% vs. 12.5%, P=0.046). There was no correlation between height SDS and GH peak values (r=-0.182, P=0.182), IGF-1 (r=-0.075, P=0.583)and IGFBP-3 (r=-0.019, P=0.891). Birth weight was positively related to their height SDS and weight SDS (r=0.364, P=0.007; r=0.378, P=0.005) respectively. There were no correlations between birth weight and BMI, IGF-1 and other indexes. Conclusions: Karyotypes and birth weight have important impact on height SDS in TS girls.