Ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions in a 17-year-old man.
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.
Papadimas
J
J
Reproductive Endocrinology Unit, First Department of Obstetrics and Gynecology, Hippocration General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Goulis
D G
DG
Giannouli
C
C
Papanicolaou
A
A
Tarlatzis
B
B
Bontis
J N
JN
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
D018076:DNA, Complementary; D012313:RNA