title: 45,X/46,XY mosaicisme: report of five cases and clinical review.
abstract: BACKGROUND
  The mosaicism 45, X/46, XY is a gonosomal abnormality characterized by a broad phenotypic spectrum, ranging from women with or without Turner syndrome stigmata, to men apparently normal, passing by the ambiguous phenotypes with variable virilisation of external genitalia. From the histological point of view, several situations may arise.
  
  
  METHODS
  We analyzed the clinical, hormonal, sonographic, and genitographics data, as well as peroperative and histological findings for five cases of mosaicism 45, X/46, XY, and we discussed treatment performed.
  
  
  RESULTS
  The mean age of patients was 6.6 years, two had a female phenotype with clitoral hypertrophy (one of them had Turner syndrome stigmata), one had a normal male phenotype with bilateral cryptorchidism and two had an ambiguity of external genitalia assigned to male. Short stature was noted for four patients. Surgical exploration concluded to the diagnosis of mixed gonadal dysgenesis for four of our patients. No cases of gonadoblastoma have been reported, for girls a prophylactic gonadectomy was performed, for boys the streak gonad was resected and the dysgenetic testis biopsied and preserved, subject for constant monitoring.
  
  
  CONCLUSIONS
  This heterogeneity indicate the importance of an accurate clinical and histological evaluation of any patient presenting with 45, X/46,XY mosaicism.
authors.affiliation: Service d'endocrinologie diabétologie, CHU d'Avicenne, Souissi, Rabat, Maroc.
authors.forename: N
authors.initials: N
authors.lastname: El Moussaif
authors.forename: N El
authors.initials: NE
authors.lastname: Haddad
authors.forename: N
authors.initials: N
authors.lastname: Iraqi
authors.forename: A
authors.initials: A
authors.lastname: Gaouzi
mesh_terms: D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D005260:Female; D005835:Genitalia / Q000002:abnormalities / Q000254:growth & development / Q000601:surgery; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics* / Q000601:surgery