title: Clinical and genetic variability in XX sex-reversed patients.
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.
authors: University of Turin, Italy.
authors: C
authors: C
authors: Manieri
authors: M
authors: M
authors: Tagliabue
authors: R F
authors: RF
authors: Novi
authors: C
authors: C
authors: Di Bisceglie
authors: C
authors: C
authors: Arduino
authors: R
authors: R
authors: Fornengo
authors: V
authors: V
authors: Brancaleoni
authors: V
authors: V
authors: Martina
mesh_terms: D000328:Adult; D012734:Disorders of Sex Development; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D014960:X Chromosome