[Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region].
| Autor: | de Araújo C; Unidade de Genética Médica e Biologia Molecular, Hospital Geral Universitário, Universidade de Cuiabá - UNIC, Cuiabá, MT, Brasil. claudiadna@yahoo.com.br, Galera BB, Galera MF, de Medeiros SF |
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| Jazyk: | portugalština |
| Zdroj: | Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia [Rev Bras Ginecol Obstet] 2010 Aug; Vol. 32 (8), pp. 381-5. |
| DOI: | 10.1590/s0100-72032010000800004 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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