Clinical and genetic variability in XX sex-reversed patients

被引：3
|
作者：
Manieri, C
Tagliabue, M
Novi, RF
DiBisceglie, C
Arduino, C
Fornengo, R
Brancaleoni, V
Martina, V
机构：
[1] University of Turin, Turin
[2] Div. Universitaria di Endocrinologia, Azienda Ospedaliera S. Giovanni B., I-10126 Torino
来源：
INTERNATIONAL JOURNAL OF ANDROLOGY | 1996年 / 19卷 / 02期
关键词：
hermaphroditism; hypogonadism; sex-reversal; SRY gene; testicular dysgenesis; XX males;
D O I：
10.1111/j.1365-2605.1996.tb00439.x
中图分类号：
R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
摘要：
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 two patients described.
引用
收藏
页码：77 / 81
页数：5
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