Clinical and genetic variability in XX sex-reversed patients.

Manieri, Chiara; Tagliabue, M; Novi, Rosa Francesca; Di Bisceglie, C; Arduino, C; Fornengo, R; Brancaleoni, V; Martina, Valentino

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 C; TAGLIABUE M; R. NOVI; DI BISCEGLIE C; ARDUINO C; FORNENGO R; BRANCALEONI V; MARTINA V. - In: INTERNATIONAL JOURNAL OF ANDROLOGY. - ISSN 0105-6263. - 19(1996), pp. 77-81.

Titolo:	Clinical and genetic variability in XX sex-reversed patients.
Autori Riconosciuti:	MANIERI, Chiara TAGLIABUE M NOVI, Rosa Francesca DI BISCEGLIE C ARDUINO C FORNENGO R BRANCALEONI V MARTINA, Valentino mostra contributor esterni nascondi contributor esterni
Autori:	MANIERI C; TAGLIABUE M; R. NOVI; DI BISCEGLIE C; ARDUINO C; FORNENGO R; BRANCALEONI V; MARTINA V
Data di pubblicazione:	1996
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.
Volume:	19
Pagina iniziale:	77
Pagina finale:	81
Rivista:	INTERNATIONAL JOURNAL OF ANDROLOGY
Appare nelle tipologie:	03A-Articolo su Rivista

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http://hdl.handle.net/2318/39672

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