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  • Artigos Originais

    Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region

    Revista Brasileira de Ginecologia e Obstetrícia. 2010;32(8):381-385

    Summary

    Artigos Originais

    Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region

    Revista Brasileira de Ginecologia e Obstetrícia. 2010;32(8):381-385

    DOI 10.1590/S0100-72032010000800004

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    PURPOSE: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS). METHODS: Forty-two patients were included. Data were collected using a standardized questionnaire in interviews conducted with the responsible person and, when possible, with the patient. A detailed physical examination was performed. The association between karyotype, stigmata and clinical disorders were examined using the χ2 test. RESULTS: Sixty-four percent of TS patients were 45,X; 26,2% 45,X/46,X;7% 45,X/46Xi(Xq), and 2,3% 45,X/46,X,Del(Xq). Regardless of the karyotype, all patients had short stature. Low hair implantation was more frequent in patients with 45,X (p=0.03). Cardiovascular abnormalities (45%), otitis (43%), thyroid dysfunction (33%) and hypertension (26.6%) were the most frequent clinical disorders, but without correlation with the karyotype. Anthropometric measurements revealed a positive linear correlation of waist and hip circumference with age (r=0.9, p=0.01). Thirty-one patients (74%) were using or had previously used growth hormone (43%), sex steroids (30%), thyroxine (11.9%) or oxandrolone (9.5%). Comparison between gestational age at birth and learning difficulties showed a prevalence ratio of 1.71 (p>0.05). CONCLUSION: Low hair implantation is the most prevalent stigma in patients with a 45,X karyotype and the most common clinical changes were cardiovascular problems, otitis, thyroid dysfunction and hypertension; however, they did not show any correlation with the karyotype.

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  • Resumo De Tese

    Molecular identification of Y chromosome sequences in patient with Turner syndrome

    Revista Brasileira de Ginecologia e Obstetrícia. 2008;30(4):210-210

    Summary

    Resumo De Tese

    Molecular identification of Y chromosome sequences in patient with Turner syndrome

    Revista Brasileira de Ginecologia e Obstetrícia. 2008;30(4):210-210

    DOI 10.1590/S0100-72032008000400009

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