title: Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases.
abstract: OBJECTIVE
  To determine the clinical implications of the presence of a Y chromosome in Turner's syndrome patients with karyotype abnormalities.
  
  
  METHODS
  To investigate the presence of Y-chromosome sequences in different tissue samples.
  
  
  METHODS
  Endocrinology outpatient clinic of a federal university in Brazil.
  
  
  METHODS
  Five Turner's syndrome patients with karyotype abnormalities such as marker chromosomes, additional material, or ring chromosomes.
  
  
  METHODS
  Peripheral blood, oral epithelial cells, and hair root samples were collected.
  
  
  METHODS
  The SRY gene and the DYZ3 repeat region were amplified by polymerase chain reaction followed by gel electrophoresis mobility of amplified genomic DNA, and ultraviolet visualization. Prophylactic gonadectomy was offered to the Y-positive patients.
  
  
  RESULTS
  The analysis of the different tissues revealed that three of the five patients studied presented Y-chromosome mosaicism. These three patients underwent prophylactic gonadectomy, and in one of them, the histopathologic study of the gonads disclosed hilus cell hyperplasia and stromal luteoma with contralateral nodular hyperthecosis.
  
  
  CONCLUSIONS
  A systematic search for Y-chromosome mosaicism in Turner's syndrome patients is justified by the risk of developing gonadal tumors or androgen-producing lesions.
authors.affiliation: Department of Medicine, Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
authors.forename: Mônica Vannucci
authors.initials: MV
authors.lastname: Nunes Lipay
authors.forename: Alexis Dourado
authors.initials: AD
authors.lastname: Guedes
authors.forename: Ieda T N
authors.initials: IT
authors.lastname: Verreschi
mesh_terms: D000293:Adolescent; D000328:Adult; D041322:Chromosomes, Human, Y / Q000235:genetics*; D050174:Genetic Diseases, Y-Linked / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008875:Middle Aged; D009030:Mosaicism; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics*