Sexual development disorder in a dog
Abstract
A 1-year intact, phenotypic female Doberman Pinscher dog, was evaluated for suspected sexual development disorder. Patient had a history of white mucoid vaginal discharge with no estrous signs or behavior. Clitoral hypertrophy with a palpable os clitoris were noted. Transabodminal ultrasonography revealed a right gonad and tubular structures (possibly uterus). Exploratory laparotomy revealed 2 underdeveloped gonads in caudodorsal abdomen and a markedly underdeveloped right uterine horn. Histopathology confirmed bilateral ovotestes. Karyotyping (number and morphology of chromosomes) and fluorescence in situ hybridization (XX and XY cells) results were normal. Samples were PCR positive for sex-determining region Y (SRY) and X-linked androgen receptor gene. We concluded that the patient was either a mosaic or chimera with normal female 78,XX and normal male 78,XY cells and genetically a mix of male and female. Final diagnosis was sex chromosome (78,XX/XY), SRY-positive, ovotesticular, disorder of sexual development with female phenotype.
Downloads
References
2. Poth T, Breuer W, Walter B, et al: Disorders of sex development in the dog-Adoption of a new nomenclature and reclassification of reported cases. Anim Reprod Sci 2010;121:197-207. doi: 10.1016/J.ANIREPROSCI.2010.04.011
3. Meyers-Wallen VN, Patterson DF: Sexual differentiation and inherited disorders of sexual development in the dog. J Reprod Fertil 1989;39:57-64.
4. Sekido R, Lovell-Badge R: Sex determination and SRY: down to a wink and a nudge? Trends Genet 2009;25:19-29. doi: 10.1016/J.TIG.2008.10.008
5. Jakob S, Lovell-Badge R: Sex determination and the control of Sox9 expression in mammals. FEBS J 2011;278:1002-1009. doi: 10.1111/J.1742-4658.2011.08029.X
6. Barrionuevo F, Bagheri-Fam S, Klattig J, et al: Homozygous inactivation of Sox9 causes complete XY sex reversal in mice. Biol Reprod 2006;74:195-201. doi: 10.1095/biolreprod.105.045930
7. Christensen BW: Disorders of sexual development in dogs and cats. Vet Clin North Am Small Anim Pract 2012;42:515-526. doi: 10.1016/J.CVSM.2012.01.008
8. Chassot AA, Gregoire EP, Magliano M, et al: Genetics of ovarian differentiation: Rspo1, a major player. Sex Dev 2008;2:219-227. doi: 10.1159/000152038
9. Vilain E, McCabe ERB: Mammalian sex determination: From gonads to brain. Mol Genet Metab 1998;65:74-84. doi: 10.1006/MGME.1998.2749
10. Raudsepp T, Chowdhary BP: Chromosome aberrations and fertility disorders in domestic animals. Annu Rev Anim Biosci 2016;4:15-43. doi: 10.1146/ANNUREV-ANIMAL-021815-111239
11. Meyers-Wallen V: Gonadal and sex differentiation abnormalities of dogs and cats. Sex Dev 2012;6:46-60.
12. West JD, Everett CA: Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism. Reprod Fertil 2022;3:R66. doi: 10.1530/RAF-21-0095
13. Padula AM: The freemartin syndrome: an update. Anim Reprod Sci 2005;87:93-109. doi: 10.1016/J.ANIREPROSCI.2004.09.008
14. Szczerbal I, Switonski M: Clinical cytogenetics of the dog: A review. Animals (Basel) 2021;11:947. doi: 10.3390/ANI11040947
15. Dockweiler J, Kawakami T, Boyko A: Disorder of sexual development due to XX/XY chimerism in a Siberian husky female dog. Clin Theriogenol 2023;15:18.
16. Szczerbal I, Nowacka-Woszuk J, Nizanski W, et al: A case of leucocyte chimerism (78,XX/78,XY) in a dog with a disorder of sexual development. Reprod Domest Anim 2014;49(3):e31-e34. doi: 10.1111/rda.12318
17. Swain A, Narvaez V, Burgoyne P, et al: Dax1 antagonizes Sry action in mammalian sex determination. Nature 1998;391:761-767. doi: 10.1038/35799
18. Romagnoli S, Schlafer DH: Disorders of sexual differentiation in puppies and kittens: A diagnostic and clinical approach. Vet Clin North Am Small Anim Pract 2006;36:573-606. doi: 10.1016/J.CVSM.2005.12.007
19. Meyers-Wallen VN: Inherited disorders in sexual development. J Hered 1999;90:93–95. doi: 10.1093/jhered/90.1.93. PMID: 9987911
20. Madan K: Natural human chimeras: A review. Eur J Med Genet 2020;63:103971. doi: 10.1016/J.EJMG.2020.103971
21. Charalsawadi C, Jaruratanasirikul S, Hnoonual A, et al: Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature. Front Genet 2022;13:802362. doi: 10.3389/FGENE.2022.802362/FULL
22. Feldman E, Nelson RW: Infertility, associated breeding disorders, and disorders of sexual development. In: Canine and Feline Endocrinology and Reproduction. 3rd edition, Saunders: Philadelphia; 2004. p. 868-900.
23. Bosu WTK, Chick BF, Basrur PK: Clinical, pathologic and cytogenic observations on two intersex dogs. Cornell Vet 1978;68:375-390.
24. Hare WC: Intersexuality in the dog. Can Vet J 1976;17:7.
25. Dain AR, Walker RG: Two intersex dogs with mosaicism. J Reprod Fertil 1979;56:239-242. doi: 10.1530/JRF.0.0560239
26. Johnston SD: Premature gonadal failure in female dogs and cats. J Reprod Fertil 1989;39:65-72.
27. Szczerbal I, Nizanski W, Dzimira S, et al: Chromosome abnormalities in dogs with disorders of sex development (DSD). Anim Reprod Sci 2021;230:106771. doi: 10.1016/j.anireprosci.2021.106771
28. Schwartz R, Sugai NJ, Eden K, et al: Case report: disorder of sexual development in a Chinese crested dog With XX/XY leukocyte chimerism and mixed cell testicular tumors. Front Vet Sci 2022;9:981. doi: 10.3389/FVETS.2022.937991/BIBTEX
![Creative Commons License](http://i.creativecommons.org/l/by-nc/4.0/88x31.png)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors retain copyright of their work, with first publication rights granted to Clinical Theriogenology. Read more about copyright and licensing here.