title: [Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region].
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Unidade de Genética Médica e Biologia Molecular, Hospital Geral Universitário, Universidade de Cuiabá - UNIC, Cuiabá, MT, Brasil. claudiadna@yahoo.com.br
authors.forename: Claudinéia
authors.initials: C
authors.lastname: de Araújo
authors.forename: Bianca Borsatto
authors.initials: BB
authors.lastname: Galera
authors.forename: Marcial Francis
authors.initials: MF
authors.lastname: Galera
authors.forename: Sebastião Freitas
authors.initials: SF
authors.lastname: de Medeiros
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult