Clinical Differences by Karyotype in Patients with Turner Syndrome

ABSTRACT

PURPOSE: The aim of this study was to evaluate clinical differences by karyotype in Turner Syndrome. METHODS: We evaluated 66 patients with Turner syndrome diagnosed at Yonsei University College of medicine from Mar.1985 to Feb.1993. We divided subproups as pure 45,X groups, mosaisism groups and structural aberration groups. Clinical features, serum estrogen, LH, FSH, concentrations, gonadotropin release after GnRH administrarion and final adult height were compared between groups. RESULTS: 1) The karyotype showed. 45,X 30 cases(45%), mosaicism 20cases(30%), (X/Xi(Xq) 15%, X/XX 7.5%, X/XY 3%, XXq- 1.5%, X/Xr(Y) 1.5%, X/XXX 1.5%) structural aberration 16 cases(24.5%)(X, i(Xq) 2 0%, XXq- 3.0%, XXp- 1.5%) 2) Clinical features were milder in Turner varinats than classical 45,X. Birth weight, body m ass index, thyroid autoantibody titers, carbohydrate intolence, peak GH levels were not significantly different between two groups. 3) Height age delay was more sighificant in 45,X karyotype than in Turner variants. 4) Although 45,X karyotype showed lower Estrogen, higher LH, FSH level than Turner variants, there was no statistically significant difference between two groups. 5) When GnRH was administered to Turner syndrome gonadotropin release were exaggerated. 6) In 25 cases who achieved their final adult height without GH therapy, mean final adult height was 140.9cm and there was no significant difference between 45,X and Turner variants. CONCLUSIONS: In Turner variants, clinical features are milder than classical 45,X and hormone secretion capacity and final adult height is not significantly different between two groups.