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Sex reversal syndrome (64,XY; SRY‐positive) in a mare demonstrating masculine behaviour
Author(s) -
Switonski M.,
Chmurzynska A.,
Szczerbal I.,
Lipczynski A.,
Yang F.,
NowickaPosłuszna A.
Publication year - 2005
Publication title -
journal of animal breeding and genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.689
H-Index - 51
eISSN - 1439-0388
pISSN - 0931-2668
DOI - 10.1111/j.1439-0388.2005.00510.x
Subject(s) - testis determining factor , y chromosome , biology , feminization (sociology) , gene , chromosome , genetics , x chromosome , male infertility , androgen insensitivity syndrome , testosterone (patch) , testicular feminization , andrology , infertility , endocrinology , medicine , androgen receptor , pregnancy , social science , prostate cancer , cancer , sociology
Summary A 5‐year‐old Thoroughbred mare was subjected to cytogenetic and molecular analysis because of infertility and masculine behaviour. Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l). Sequencing of the SRY gene (1121 bp), comprising also 5′‐ and 3′‐UTRs, did not reveal any differences when compared with the sequence of normal stallions. It was proposed that this mare represents the androgen insensitivity syndrome (testicular feminization syndrome).