A 23-month-old tomcat was referred to our clinic because of male behavioral problems, cryptorchidism, and an undefined intra-abdominal organ resembling a uterus. Ultrasonography and computed tomography showed 2 fluid-filled tubular structures dorsolaterally to the bladder and connected to the pelvic urethra. The cat was castrated, and the tubular structures were surgically removed. Histology identified them as Müllerian duct remnants. The testes were hypoplastic, the epididymes and deferent ducts were normal. Cytogenetic analyses revealed the presence of a mosaic 37,X/38,XY karyotype which explains the clinical findings.

Keywords:
Intersex, Male, Karyotype, Testis, Tomcat, Sex chromosome DSD, SRY
1.
Axnér E, Ström Holst B: Concentrations of anti-Müllerian hormone in the domestic cat. Relation with spay or neuter status and serum estradiol. Theriogenology 83:817-821 (2015).
2.
Berkovitz GD: Abnormalities of gonadal determination and differentiation. Semin Perinatol 16:289-298 (1992).
3.
Bredal WP, Thoresen SI, Kvellestad A, Lindblad K: Male pseudohermaphroditism in a cat. J Small Anim Pract 38:21-24 (1997).
4.
Centerwall WR, Benirschke K: An animal model for the XXY Klinefelter's syndrome in man: tortoiseshell and calico male cats. Am J Vet Res 36:1275-1280 (1975).
5.
Chang HJ, Clark RD, Bachman H: The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 46:156-167 (1990).
6.
Ciani F, Cocchia N, Rizzo M, Ponzio P, Tortora G, et al: Sex determining of cat embryo and some feline species. Zygote 16:169-177 (2008).
7.
DiNapoli L, Capel B: SRY and the standoff in sex determination. Mol Endocrinol 22:1-9 (2008).
8.
Dybdahl Thomsen P, Byskov AG, Basse A: Fertility in two cats with X-chromosome mosaicism and unilateral ovarian dysgenesis. J Reprod Fertil 80:43-47 (1987).
9.
Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I: Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies. J Pediatr Urol 9:139-144 (2013).
10.
Ford CE, Pollock DL, Gustavsson I: Proceedings of the First International Conference for the Standardisation of Banded Karyotypes of Domestic Animals. Hereditas 92:145-162 (1980).
11.
Giger U, Meyers-Wallen VN, Patterson DP: A 6-month-old Doberman pinscher with ambiguous genitalia as a first case of X-chromosomal monosomy in the dog. J Vet Intern Med 3:245 (1989).
12.
Hughes IA, Acerini CL: Factors controlling testis descent. Eur J Endocrinol 159:S75-S82 (2008).
13.
Hutson JM, Li R, Southwell BR, Newgreen D, Cousinery M: Regulation of testicular descent. Pediatr Surg Int 31:317-325 (2015).
14.
Johnston SD, Buoen LC, Madl JE, Weber AF, Smith FO: X-Chromosome monosomy (37,XO) in a Burmese cat with gonadal dysgenesis. J Am Vet Med Assoc 182:986-989 (1983).
15.
Johnston SD, Root MV, Olson PNS: Ovarian and testicular function in the domestic cat: clinical management of spontaneous reproductive disease. Anim Reprod Sci 42:261-274 (1996).
16.
Johnstone IP, Bancroft BJ, McFarlane JR: Testosterone and androstenedione profiles in the blood of domestic tom-cats. Anim Reprod Sci 7:363-375 (1984).
17.
Josso N, di Clemente N, Gouédard L: Anti-Müllerian hormone and its receptors. Mol Cell Endocrinol 179:25-32 (2001).
18.
Leaman T, Rowland R, Long SE: Male tortoiseshell cats in the United Kingdom. Vet Rec 144:9-12 (1999).
19.
Long SE: 38,XX/38,XY chromosome chimaerism in three feline siblings. Vet Rec 145:404-405 (1999).
20.
Long SE, Berepubo NA: A 37XO chromosome complement in a kitten. J Small Anim Pract 21:627-631 (1980).
21.
Lyle SK: Disorders of sexual development in the dog and cat. Theriogenology 68:338-343 (2007).
22.
Manna GK, Sarkar CS: An XO female house cat, Felis catus. Chromosome Info Svc 45:10-12 (1988).
23.
Meyers-Wallen VN: Review and update: genomic and molecular advances in sex determination and differentiation in small animals. Reprod Domest Anim 44:40-46 (2009).
24.
Meyers-Wallen VN: Gonadal and sex differentiation abnormalities of dogs and cats. Sex Dev 6:46-60 (2012).
25.
Meyers-Wallen VN, Donahoe PK, Manganaro T, Patterson DF: Müllerian inhibiting substance in sex-reversed dogs. Biol Reprod 37:1015-1022 (1987).
26.
Meyers-Wallen VN, Donahoe PK, Ueno S, Manganaro TF, Patterson DF: Müllerian inhibiting substance is present in testes of dogs with persistent Müllerian duct syndrome. Biol Reprod 41:881-888 (1989).
27.
Meyers-Wallen VN, MacLaughlin D, Palmer V, Donahoe PK: Mullerian-inhibiting substance secretion is delayed in XX sex-reversed dog embryos. Mol Reprod Dev 39:1-7 (1994).
28.
Moran C, Gillies CB, Nicholas FW: Fertile male tortoiseshell cats mosaicism due to gene instability? J Hered 75:397-402 (1984).
29.
Norby DE, Hegreberg GA, Thuline HC, Findley D: An X0 cat. Cytogenet Cell Genet 13:448-453 (1974).
30.
Pasterski V, Prentice P, Hughes IA: Impact of the consensus statement and the new DSD classification system. Best Pract Res Clin Endocrinol Metab 24:187-195 (2010).
31.
Pedersen AS, Berg LC, Almstrup K, Thomsen PD: A tortoiseshell male cat: chromosome analysis and histologic examination of the testis. Cytogenet Genome Res 142:107-111 (2014).
32.
Pieńkowska-Schelling A, Becker D, Pineroli B, Schelling C: Ein Fall von SRY positive Sex-Umkehr bei einer Hauskatze. Schweiz Arch Tierheilk 157:157-159 (2015).
33.
Poth T, Breuer W, Walter B, Hecht W, Hermanns W: Disorders of sex development in the dog - adoption of a new nomenclature and reclassification of reported cases. Anim Reprod Sci 121:197-207 (2010).
34.
Romagnoli S, Schlafer DH: Disorders of sexual differentiation in puppies and kittens: a diagnostic and clinical approach. Vet Clin North Am Small Anim Pract 36:573-606 (2006).
35.
Rosa RF, D'Ecclesiis WF, Dibbi RP, Rosa RC, Trevisan P, et al: 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. Sao Paulo Med J 132:332-338 (2014).
36.
Schmidt-Küntzel A, Nelson G, David VA, Schäffer AA, Eizirik E, et al: A domestic cat X chromosome linkage map and the sex-linked orange locus: mapping of orange, multiple origins and epistasis over nonagouti. Genetics 181:1415-1425 (2009).
37.
Schulman J, Levine SH: Pyometra involving uterus masculinus in a cat. J Am Vet Med Assoc 194:690-691 (1989).
38.
Smith FW Jr, Buoen LC, Weber AF, Johnston SD, Randolph JF, Waters DJ: X-chromosomal monosomy (77,XO) in a Doberman Pinscher with gonadal dysgenesis. J Vet Intern Med 3:90-95 (1989).
39.
Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL: 45,X/46,XY mosaicism: report of 27 cases. Pediatrics 104:304-308 (1999).
40.
Tosson H, Rose SR, Gartner LA: Description of children with 45,X/46,XY karyotype. Eur J Pediatr 171:521-529 (2012).
41.
Tsutsui T, Onodera F, Oba H, Mizutani T, Hori T: Plasma hormone levels and semen quality in male cats during non-breeding and breeding seasons. Reprod Dom Anim 44:291-293 (2009).
42.
Vosa CG: The quinacrine fluorescence patterns of the chromosomes of Allium carinatum. Chromosoma 33:382-385 (1971).
43.
Wu X, Wan S, Pujar S, Haskins ME, Schlafer DH, et al: A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Müllerian duct syndrome. J Androl 30:46-56 (2009).
© 2016 S. Karger AG, Basel
2016
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.