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: | |
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 |