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Clinical Differences by Karyotype in Patients with Turner Syndrome

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
박미정2, 이진성2, 김길영2, 김덕희2, 김호성1
1이화여자대학교 의과대학 소아과학교실
2연세대학교 의과대학 소아과학교실
: The aim of this study was to evaluate clinical differences by karyotype in Turner Syndrome.
: 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.
: 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.
: 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

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