The freemartin syndrome: an update.

The freemartin condition represents the most frequent form of intersexuality found in cattle, and occasionally other species. This review considers the current state of knowledge of freemartin biology, incidence, experimental models, diagnosis, uses for freemartins in cattle herds, occurrence in non-bovine species, effects on the male, and highlights potential new research areas. Freemartins arise when vascular connections form between the placentae of developing heterosexual twin foeti, XX/XY chimerism develops, and ultimately there is masculinisation of the female tubular reproductive tract to varying degrees. With twinning rates in Holstein cows increasing, there will be greater economic importance to establish early diagnosis of the freemartin and the detection of the less common single born freemartin. New diagnostic methods based on the detection of Y-chromosome DNA segments by polymerase chain reaction (PCR) show improved assay sensitivity and efficiency over karyotyping and clinical examination. The implications for the chimeric male animal born co-twin to the freemartin are contentious as to whether fertility is affected; if germ cell chimerism does indeed occur; and, if there are any real effects on the sex ratio of offspring produced. In beef cattle, the freemartin carcass has similar characteristics to normal herdmates. Hormonal treatment of freemartins for use as oestrous detectors has been used to obtain salvage value. The biology of freemartin sheep has recently been studied in detail, and the condition may be increasing in prevalence with the introduction of high fecundity genes into flocks. Potential new research areas are discussed, such as detection of foetal DNA in maternal circulation for prenatal diagnosis and investigation of the anti-tumour properties of Mullerian inhibiting substance (MIS). The freemartin syndrome will always be a limiting factor in cattle and to a lesser extent in sheep production systems that have the goal to produce multiple reproductively normal female offspring from a single dam without using sex predetermination.

Diagnosis of freemartinism in cattle: the need for clinical and cytogenic evaluation.

A total of 727 blood samples from female calves born co-twin to male calves were examined cytogenetically for freemartinism between 1978 and 1992. Six hundred calves (82.5%) were determined to be freemartins, and 127 (17.5%) were determined not to be freemartins. The percentage of calves determined not to be freemartins was substantially higher than the 8% reported for an unselected population of female co-twins. We concluded that some obvious freemartins were eliminated prior to submission of samples for confirmatory cytogenetic diagnosis, and that only a small percentage of the estimated 93,000 female calves born co-twin to male calves annually are so examined. Therefore, probably a large number of female co-twins that are not truly freemartins are sold to slaughter every year. We propose that obvious freemartins be identified by use of the vaginal-length test and that the remaining clinically questionable calves be differentiated cytogenetically. This combination of procedures could prevent unnecessary economic losses and preserve important genetic material. Three animals with chromosomal anomalies were found during examination of samples for freemartinism. Cytogenetic evaluation for freemartinism thus offers the added value of simultaneous surveillance for cytogenetic aberrations in male and female cells of a sample.

Some aspects of twin-gestation in the mare.

A study has been made of 44 cases of twin pregnancy in mares. The fetuses, foals, fetal membranes and blood groups of parents and foals were examined in order to determine the incidence of chorio-vascular anastomosis, blood chimaerism and freemartinism. All of the twins proved to be dizygotic and 33 of the 34 pregnancies were bicornual. Fusion of the chorion was seen in 14 of 22 placentas and macroscopic choriovascular bridges were observed in five of these, although blood chimaerism was diagnosed in 11 of 25 cases (44 per cent) examined. This would indicate a high incidence of microchoriovascular anastomosis. The fetal female genital organs of four heterosexual twins were found to be anatomically and histologically normal at autopsy despite the existence of blood chimaerism. Five other sexvalley mature mares born as heterosexual twins with chimaerism all had normal genital organs and estrus cycles and one of these has since become pregnant. The important interspecies differences with respect to the incidence and degree of choriovascular anastomosis and freemartinism are stressed and suggestions for a plausible explanation were advanced.