Deoxyribonucleic acid and cytological detection of Y-containing cells in an XX hypospadiac boy with polyorchidism.
A hypospadiac boy with a hypoplastic penis and an apparent 46,XX karyotype in blood and testis cultures is described. Exploratory laparotomy and bilateral gonadal biopsy revealed the presence of 2 testes in the right and 1 in the left hemiscrotum, each of which only showed hypoplastic testicular tissues histologically. Uncultured testis smears showed Y chromatin in approximately 20% of the cells. Also, the Southern blot and polymerase chain reaction analyses detected a weak but distinct signal of Y chromosome-derived deoxyribonucleic acid sequences in the perineal skin but not in the blood lymphocytes. The results indicated that the boy had a small proportion of Y chromosome-containing cells in the form of mosaicism in limited tissues, such as the testes and perineal skin. This finding may have implications in the genesis of testes in some cases of XX patients, and true hermaphrodites or male pseudohermaphrodites with an apparent 46,XX karyotype. To our knowledge, this appears to be the first case of polyorchidism with an identified chromosome abnormality.
Division of Urology, National Children's Hospital, Tokyo, Japan.
M
M
Yoshida
Y
Y
Kakizawa
N
N
Moriyama
S
S
Minowada
E
E
Higashihara
Y
Y
Aso
Y
Y
Nakagome
Y
Y
Nakahori
S
S
Nagafuchi
A
A
Tanae
D015139:Blotting, Southern; D004247:DNA / Q000032:analysis*; D015342:DNA Probes; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D010413:Penis / Q000002:abnormalities; D016133:Polymerase Chain Reaction; D012611:Scrotum / Q000002:abnormalities; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D013737:Testis / Q000002:abnormalities*; D014960:X Chromosome / Q000737:chemistry; D014998:Y Chromosome / Q000737:chemistry
D015342:DNA Probes; D004247:DNA