The freemartin condition represents the most frequent form of intersexuality found in cattle, and occasionally in other species. Freemartinism arises when vascular connections occur between placentae of developing heterosexual twin foetuses, XX/XY chimerism develops, and ultimately there is masculinisation of the female tubular reproductive tract to varying degrees. The aim of this work was to report the clinical and cytogenetic studies performed in 28 cattle co-twins, 24 of which were cytogenetically chimeric (2n = 60, XX/XY), raised in the region of Campania (southern Italy). Clinical findings of the 16 freemartin females examined varied greatly, from a more female phenotype (normal body conformation with the presence of a blind-ending vagina and primordial ovarian and uterus structures) to a nearly male phenotype (body conformations with male traits and presence of primordial prepuce, penis and testicles). The 8 freemartin males, in spite of the presence of XX cells, had a normal body conformation and external genitalia and some of them were fertile. In addition to cytogenetic diagnosis we also verified chromosome fragility by testing for chromosome aberration (CA: aneuploidy, gaps, chromatid breaks, chromosome breaks and fragments) and sister chromatid exchange (SCE). Freemartins showed a higher percentage of aneuploid cells and significant statistical differences in mean values of gaps, chromatid breaks and chromosome breaks when compared with control animals. To our knowledge, this is the first time that chromosome instability has been evaluated by analyses of CA and SCE in freemartin cattle.

Chaganti RSK, Schonberg S, German J: A manyfold increase in sister chromatid exchange in Bloom’s syndrome lymphocytes. Proc Natl Acad Sci USA 71:4508–4512 (1974).
Ciotola F, Peretti V, Di Meo GP, Perucatti A, Iannuzzi L, Barbieri V: Sister chromatid exchanges (SCE) in the Agerolese cattle population. Vet Res Comm 29(suppl 2):359–361 (2005).
Di Berardino D, Shoffner R: Sister chromatid exchange in chromosomes of cattle (Bos taurus). J Dairy Sci 62:627–632 (1979).
Di Meo GP, Iannuzzi L, Perucatti A, Ferrara L, Pizzillo M, Rubino R: Sister chromatid exchange in the goat (Capra hircus). Hereditas 118:35–38 (1993).
Di Meo GP, Perucatti A, Fornataro D, Incarnato D, Ferrara L, Matassino D, Iannuzzi L: Sister chromatid exchange in chromosomes of sheep (Ovis aries). Cytobios 101:71–78 (2000).
Gregory KE, Echternkamp SE, Cundiff LV: Effects of twinning on dystocia, calf survival, calf growth, carcass traits, and cow productivity. J Anim Sci 74:1223–1233 (1996).
Iannuzzi L, Perucatti A, Di Meo GP, Ferrara L: Sister chromatid exchange in chromosomes of river buffalo (Bubalus bubalis L.). Caryologia 41:237–244 (1988).
Iannuzzi L, Di Meo GP, Perucatti A, Ferrara L, Gustavsson I: Sister chromatid exchange in chromosomes of cattle from three different breeds reared under similar conditions. Hereditas 114:201–205 (1991).
Iannuzzi L, Di Meo GP, Perucatti A, Ciotola F, Incarnato D, et al: Freemartinism in river buffalo: clinical and cytogenetic observations. Cytogenet Genome Res 108:355–358 (2005).
Khan MZ, Foley GL: Retrospective studies on the measurements, karyotyping and pathology of reproductive organs of bovine freemartins. J Comp Pathol 110:25–36 (1994).
Llambi S, Postiglioni A: Localization of the fragile X chromosome break points in Holstein-Friesian cattle (Bos taurus). Theriogenology 42:789–794 (1994).
Long SE: Development and diagnosis of freemartinism in cattle. In Pract 12:208–210 (1990).
Marcum JB: The freemartin syndrome. Anim Breed Abstr 42:227–239 (1974).
McEntee K: Intersexes, in Reproductive Pathology of Domestic Mammals chap. xv, pp. 401 (Academic Press, San Diego 1990).
Myake Y, Yshikawa T, Kawata K: The relationship between sex chromosomal chimerism and vaginal length in bovine heterosexual twin females. Jpn J Anim Reprod 26:69–73 (1980).
Padula AM: The freemartin syndrome: an update. Anim Reprod Sci 87:93–109 (2005).
Peretti V, Ciotola F, Dario C, Albarella S, Di Meo GP, et al: Sister chromatid exchange (SCE) in Casertana pig. Hereditas 143:113–116 (2006).
Peretti V, Ciotola F, Albarella S, Russo V, Di Meo G, et al: Chromosome fragility in cattle with chronic enzootic haematuria. Mutagenesis 22:317–320 (2007).
Perucatti A, Di Meo GP, Albarella S, Ciotola F, Incarnato D, et al: Increased frequencies of both chromosome abnormalities and SCEs in two sheep flocks exposed to high dioxin levels during pasturage. Mutagenesis 21:67–75 (2006).
Ruvinsky A, Spicer LJ: Developmental genetics: Sex determination and differentiation, in Fries R, Ruvinsky A (eds): The Genetics of Cattle, pp 456–461 (CABI Publishing and CAB International, Wallingford 1999).
Vigier B, Watrin F, Magre S, Tran D, Josso N: Purified bovine AMH induces a characteristic freemartin effect in fetal rat prospective ovaries exposed to it in vitro. Development 100:43–55 (1987).
Wilkes PR, Wijeratne WVS, Munro IB: Reproductive anatomy and cytogenetics of freemartin heifers. Vet Rec 108:349–353 (1981).
Zhang T, Buoen LC, Seguin BE, Ruth GR, Weber AF: Diagnosis of freemartinism in cattle: need for clinical and cytogenetic evaluation. J Am Vet Med Assoc 204:1672–1675 (1994).
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.