Clinical Differences by Karyotype in Patients with Turner Syndrome

Park, Mi Jung; Lee, Jin Sung; Kim, Kir Young; Kim, Duk Hi; Kim, Ho Seoung

Original Article

Journal of the Korean Pediatric Society 1995;38(2):143-150.
Published online February 15, 1995.

Clinical Differences by Karyotype in Patients with Turner Syndrome

Mi Jung Park², Jin Sung Lee², Kir Young Kim², Duk Hi Kim², Ho Seoung Kim¹

¹Department of Pediatrics, College of Medicine, Ewha University, Seoul, Korea
²Department of Pediatrics, College of Medicine, Yonsei University, Seoul, Korea

터너 증후군에서 핵형에 따른 임상양상의 차이

박미정^²^, 이진성^²^, 김길영^²^, 김덕희^²^, 김호성^¹

^¹이화여자대학교 의과대학 소아과학교실
^²연세대학교 의과대학 소아과학교실

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 sighifi-cantly 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 varia-nts, there was no statistically significant difference between two groups. 5) When GnRH was administered to Turner syndrome gonadotropin release were exaggera-ted. 6) In 25 cases who achieved their final adult height without GH therapy, mean final adult he-ight was 140.9cm and there was no significant difference between 45,X and Turner variants.
Conclusion
: 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.

Key Words: Turner Syndrome, Karyotype, Clinical differences