title: 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.
abstract: OBJECTIVE
  45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.
  
  
  METHODS
  A retrospective study in a referral hospital in southern Brazil.
  
  
  METHODS
  Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.
  
  
  RESULTS
  Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.
  
  
  CONCLUSIONS
  45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Rafael Fabiano Machado
authors.initials: RF
authors.lastname: Rosa
authors.affiliation: Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Willy Francisco Bartel
authors.initials: WF
authors.lastname: D'Ecclesiis
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Raquel Papandreus
authors.initials: RP
authors.lastname: Dibbi
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Rosana Cardoso Manique
authors.initials: RC
authors.lastname: Rosa
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Patrícia
authors.initials: P
authors.lastname: Trevisan
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Graziadio
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Giorgio Adriano
authors.initials: GA
authors.lastname: Paskulin
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Paulo Ricardo Gazzola
authors.initials: PR
authors.lastname: Zen
mesh_terms: D000293:Adolescent; D000328:Adult; D053713:Azoospermia / Q000235:genetics; D001827:Body Height / Q000235:genetics; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009264:Nails, Malformed / Q000235:genetics; D010641:Phenotype; D012189:Retrospective Studies; D014424:Turner Syndrome / Q000235:genetics*; D055815:Young Adult