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
相关论文
共 50 条
  • [1] Clinical and molecular analysis of XX sex-reversed patients
    Kolon, TF
    Ferrer, FA
    McKenna, PH
    PEDIATRICS, 1997, 100 (03) : 576 - 576
  • [2] Molecular analysis of the Y chromosome in XX sex-reversed patients
    Chernykh, V. B.
    Chukhrova, A. L.
    Wasserman, N. N.
    Il'inaa, E. V.
    Karmanov, M. E.
    Fedotov, V. P.
    Kurilo, L. F.
    Polyakov, A. V.
    RUSSIAN JOURNAL OF GENETICS, 2008, 44 (02) : 197 - 201
  • [3] Molecular analysis of the Y chromosome in XX sex-reversed patients
    V. B. Chernykh
    A. L. Chukhrova
    N. N. Wasserman
    E. V. Il’ina
    M. E. Karmanov
    V. P. Fedotov
    L. F. Kurilo
    A. V. Polyakov
    Russian Journal of Genetics, 2008, 44 : 197 - 201
  • [4] SEX-REVERSED MICE - XX AND XO MALES
    CATTANACH, BM
    POLLARD, CE
    HAWKES, SG
    CYTOGENETICS, 1971, 10 (05): : 318 - +
  • [5] COULD SEX-REVERSED CONDITIONS BE GENETIC ARTIFACTS
    CATTANACH, BM
    GENETICAL RESEARCH, 1987, 49 (03) : 250 - 250
  • [6] EPIDIDYMIDES OF SEX-REVERSED XX-MICE LACK THE INITIAL SEGMENT
    LEBARR, DK
    BLECHER, SR
    DEVELOPMENTAL GENETICS, 1986, 7 (02): : 109 - 116
  • [7] Clinical and molecular analysis of XX sex reversed patients
    Kolon, TF
    Ferrer, FA
    McKenna, PH
    JOURNAL OF UROLOGY, 1998, 160 (03): : 1169 - 1172
  • [8] Common spontaneous sex-reversed XX males of the medaka Oryzias latipes
    Nanda, I
    Hornung, U
    Kondo, M
    Schmid, M
    Schartl, M
    GENETICS, 2003, 163 (01) : 245 - 251
  • [9] Variability in reproductive performance of sex-reversed tilapia Oreochromis aureus
    Desprez, Damien
    Bosc, Pierre
    Baroiller, Jean Francois
    Melard, Charles
    AQUACULTURE, 2008, 277 (1-2) : 73 - 77
  • [10] SEX-REVERSED MICE AND SEX DETERMINATION
    CATTANACH, BM
    ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1987, 513 : 27 - 39
12345