title: Ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions in a 17-year-old man.
abstract: OBJECTIVE
  To describe clinical and laboratory features of a patient with 45,X/46,XY mosaic karyotype and Y chromosome microdeletions and to discuss the diagnostic problems in his management.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University department.
  
  
  METHODS
  A 17-year-old man with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions.
  
  
  METHODS
  Testicular ultrasonography, karyotype, open testicular biopsy, polymerase chain reaction (PCR) screening for cystic fibrosis, PCR screening for Y chromosome microdeletions in peripheral blood and testicular tissue, and reverse transcriptase PCR in testicular tissue for Y chromosome microdeletions.
  
  
  METHODS
  Avoidance of dissemination of testicular cancer.
  
  
  RESULTS
  The patient was referred for bilateral orchiectomy.
  
  
  CONCLUSIONS
  45,X/46,XY mosaic karyotype is associated with a broad spectrum of phenotypes that includes female with Turner syndrome, male with mixed gonadal dysgenesis, male pseudohermaphroditism, and apparently normal male. Microdeletions of the long arm of the Y chromosome may be associated with Y chromosomal instability, leading to formation of 45,X cell lines. 45,X/46,XY males carry an increased risk for gonadal tumors and must be followed closely.
authors.affiliation: Reproductive Endocrinology Unit, First Department of Obstetrics and Gynecology, Hippocration General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: J
authors.initials: J
authors.lastname: Papadimas
authors.forename: D G
authors.initials: DG
authors.lastname: Goulis
authors.forename: C
authors.initials: C
authors.lastname: Giannouli
authors.forename: A
authors.initials: A
authors.lastname: Papanicolaou
authors.forename: B
authors.initials: B
authors.lastname: Tarlatzis
authors.forename: J N
authors.initials: JN
authors.lastname: Bontis
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D018076:DNA, Complementary / Q000737:chemistry; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012313:RNA / Q000737:chemistry / Q000302:isolation & purification; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013737:Testis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014463:Ultrasonography; D014998:Y Chromosome
chemical_list: D018076:DNA, Complementary; D012313:RNA