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
  • [21] Molecular analysis of sex determination in sex-reversed and true hermaphroditism
    Copelli, SB
    Bergada, C
    Billerbeck, AEC
    Goldberg, AC
    Kalil, J
    Damiani, D
    Targovnik, HM
    BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, 1996, 29 (06) : 743 - 748
  • [22] Sex Steroid Levels in XY Males and Sex-Reversed XX Males, of Rainbow Trout (Oncorhynchus mykiss), During the Reproductive Cycle
    Espinosa, E.
    Josa, A.
    Gil, L.
    Gonzalez, N.
    REPRODUCTION IN DOMESTIC ANIMALS, 2011, 46 (01) : 8 - 14
  • [23] MULLERIAN INHIBITING SUBSTANCE IN SEX-REVERSED DOGS
    MEYERSWALLEN, VN
    DONAHOE, PK
    MANGANARO, T
    PATTERSON, DF
    BIOLOGY OF REPRODUCTION, 1987, 37 (04) : 1015 - 1022
  • [24] Identification of differentially expressed proteins between sperm of males (XY) and sex-reversed rainbow trout females (XX)
    Nynca, J.
    Slowinska, M.
    Dietrich, G. J.
    Dobosz, S.
    Ciereszko, A.
    REPRODUCTION IN DOMESTIC ANIMALS, 2016, 51 : 123 - 123
  • [25] Spatial ability of XY sex-reversed female mice
    Stavnezer, AJ
    McDowell, CS
    Hyde, LA
    Bimonte, HA
    Balogh, SA
    Hoplight, BJ
    Denenberg, VH
    BEHAVIOURAL BRAIN RESEARCH, 2000, 112 (1-2) : 135 - 143
  • [26] The XX-XY sex-determination system in Oryzias luzonensis and O-mekongensis revealed by the sex ratio of the progeny of sex-reversed fish
    Hamaguchi, Satoshi
    Toyazaki, Yota
    Shinomiya, Ai
    Sakaizumi, Mitsuru
    ZOOLOGICAL SCIENCE, 2004, 21 (10) : 1015 - 1018
  • [27] A male to female sex-reversed dog with a reciprocal translocation
    Schelling, C
    Pienkowska, A
    Arnold, S
    Hauser, B
    Switonski, M
    ADVANCES IN REPRODUCTION IN DOGS, CATS AND EXOTIC CARNIVORES, 2001, (57): : 435 - 438
  • [28] Of sex and determination: marking 25 years of Randy, the sex-reversed mouse
    Koopman, Peter
    Sinclair, Andrew
    Lovell-Badge, Robin
    DEVELOPMENT, 2016, 143 (10): : 1633 - 1637
  • [29] Sex-reversed and normal turtles display similar sex steroid profiles
    Rhen, T
    Elf, PK
    Fivizzani, AJ
    Lang, JW
    JOURNAL OF EXPERIMENTAL ZOOLOGY, 1996, 274 (04): : 221 - 226
  • [30] Lampbrush chromosomes and chiasmata of sex-reversed crested newts
    Wallace, H
    Wallace, BMN
    Badawy, GMI
    CHROMOSOMA, 1997, 106 (08) : 526 - 533
12345