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.

Clinical and genetic variability in XX sex-reversed patients.

MANIERI, Chiara;NOVI, Rosa Francesca;MARTINA, Valentino
1996-01-01

Abstract

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.
1996
19
77
81
MANIERI C; TAGLIABUE M; R. NOVI; DI BISCEGLIE C; ARDUINO C; FORNENGO R; BRANCALEONI V; MARTINA V
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/39672
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