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...

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Bibliographic Details
Published inInternational journal of andrology Vol. 19; no. 2; p. 77
Main Authors Manieri, C, Tagliabue, M, Novi, R F, Di Bisceglie, C, Arduino, C, Fornengo, R, Brancaleoni, V, Martina, V
Format Journal Article
LanguageEnglish
Published England 01.04.1996
Subjects
Adult
Disorders of Sex Development
Genetic Variation
Humans
Male
Middle Aged
X Chromosome
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Summary: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.
ISSN:0105-6263
1365-2605
DOI:10.1111/j.1365-2605.1996.tb00439.x