Familial occurrence of pig intersexes (38,XX; SRY-negative) on a commercial fattening farm

Occurrence of sex-reversal (38,XX; SRY-negative) cases in the progeny of a single boar was observed. Altogether 11 intersexes, originating from nine litters, given by nine sows were found. The breeder classified the sex-reversal individuals as females with enlarged clitoris. In addition, it was noticed that the anus was joined with the vulva. Moreover, in the scrotum-like structure one or two gonads were present. Cytogenetic evaluation was carried out for the sire, five dams and seven intersexes. The study revealed the normal male karyotype (38,XY) in the sire and the normal female karyotype (38,XX) in the dams and the intersexes. Molecular detection of the presence of the SRY gene was carried out for the sire, five dams, 10 intersexes and 28 phenotypically normal siblings. The SRY gene was present in the genotype of the sire and the male siblings. Three intersexes were subjected to detailed anatomical and histological examinations, after slaughter in a local slaughterhouse. Gonads were classified as testes with well-developed epididymis, however, without spermatogenetic activity. The presence of a properly developed uterus and ducti deferens was observed, but oviducts were not found. The collected data indicate that the sex-reversal status was caused by an unknown autosome, recessive mutation. Genetic background of this type of intersexuality is discussed in this study.