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

to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS). 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. 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). 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.