78,XX testicular DSD syndrome in a mongrel dog

Abstract

Because of an apparent sexual ambiguity (enlarged clitoris), a 1-year-old mongrel dog was presented to the clinic. A positive result on a GnRH stimulation test revealed the existence of functional testicular tissue. A midline laparotomy was performed, and gonads resembling testes were resected along with the adherent parts of the uterine horns. Microscopic examination confirmed that the sampled gonads were testes. Cross-sections of the head and tail of the epididymis revealed their typical structures. All layers of the uterine wall were well-developed. The lumen was stellar, covered by columnar cylindrical epithelium, although locally some epithelial cells had changed in height from columnar to flat. The uterine glands were distributed in functional layer of endometrium in a non-uniform way. Cytogenetic analysis based on the evaluation of metaphase plates of blood lymphocytes showed a female karyotype, 78,XX. PCR amplification of the SRY gene was negative in the studied mongrel dog. This canine disorder may be genetically heterogeneous, potentially with a different mutation in different breeds. An autosomal recessive inheritance for the XX male is suggested in such cases. The present case of sex reversal syndrome concerns a non-purebred dog. In mongrels, it is definitely less likely for the defect to be inherited because of a recessive disorder. According to the recently proposed nomenclature, the described case should be classified as 78,XX testicular DSD syndrome.