Clinical and genetic variability in XX sex-reversed patients.
Three 46, XX hypogonadal subjects are described who exhibited different clinical and genetic characteristics. Two patients, with complete sex-reversal, are sterile males with hypogonadal features; the third patient, with partial sex-reversal, presented with a eunuchoid appearance and with ambiguous genitalia. Polymerase chain reaction (PCR) amplification of DNA from these patients showed the presence of a translocation of the sex-determining region of the Y chromosome (Sry) only in the first two patients described.
Manieri
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C
University of Turin, Italy.
Tagliabue
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Novi
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RF
Di Bisceglie
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Arduino
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C
Fornengo
R
R
Brancaleoni
V
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Martina
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V
D000328:Adult; D012734:Disorders of Sex Development; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D014960:X Chromosome