Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive)

Abstract

A 9-month-old Yorkshire terrier was admitted to the clinic because of abnormal sexual behaviour and clitoral hypertrophy. External examination confirmed standard development of caudal genital organs: vagina, vulva and cervix uteri. Serum profile of gonadotropin hormones 17 β-estradiol (<10.0 pg.ml(-1)) and testosterone (9.1 ng.ml(-1)) revealed the presence of testicular tissue. A midline laparotomy was performed to detect the cranial parts of the genital system. Gonads resembling testicles, structures indicating epididymis and rudimentary deferent ducts were resected, along with adherent part of the uterus. Cytogenetic analysis showed a male chromosomal complement 78, XY in all metaphases of the studied Yorkshire terrier dog. The chromosomal constitution was confirmed by fluorescence in situ hybridisation (FISH) with whole-chromosome painting probes specific for chromosomes X and Y, as well as by polymerase chain reaction (PCR) amplification of the 271-bp Y-linked fragment of SRY (the sex-determining region on the Y chromosome) gene. Sequencing of the dog's SRY gene coding region did not reveal any mutation. To search for potential mutation in the SOX9 gene (Sry-box containing gene 9), which is considered to be one of the key genes involved in the sex determination process, the PCR fragments of exons 1, 2 and 3 originating from the canine patient were sequenced in order to compare with both male and female healthy control dogs. In the analysed regions of the SOX9 gene, no mutation was found.

Seminoma and sertolioma in a male pseudohermaphrodite dog with unilateral cryptorchidism: short communication

“…Meyers-Wallen et al (1989) suggested that these dogs can be used to improve our understanding of the syndrome in humans, since PMDS in miniature Schnauzer dogs is inherited as an autosomal recessive trait that is limited to homozygous males. Similar reports have been described in other breeds, such as the Basset Hound, American Cocker Spaniel, Yorkshire Terrier, and in cats (MEYERS-WALLEN, 2012;ALAM et al, 2007;DIANOVSKÝ et al, 2013).…”

“…Affected dogs secrete bioactive MIS during a critical time of embryonic development (MEYERS-WALLEN et al, 2012), which suggests that its disturbance in individuals affected by the syndrome is a lack of response to MIS stimulation, possibly due to a defect in the genes encoding these receptors (FOSTER, 2013). Similar to humans, research to date has focused finding mutations in SRY and SOX9 (DIANOVSKÝ et al, 2013), which would be related to MIS. It is believed that 50% of dogs with PMDS are cryptorchid (MEYERS-WALLEN, 2012).…”

Penile hypoplasia and rudimentary prepuce in a dog (78,XY; SRY-positive): a case report

“…It should be mentioned that phenotypic variation of sex development in XY dogs is quite wide and includes cryptorchidism, hypospadias and ambiguous external genitalia. In the latter group an enlarged clitoris (Meyers-Wallen et al 1999;Wernham and Jerram 2006;Alam et al 2007;Nowacka-Woszuk et al 2007;Dianovsky et al 2013) was usually reported. In addition, a rare case manifested by lack of scrotum and penis, but with the presence of a vulva was also described (Bigliardi et al 2011).…”

Histopathological pattern of gonads in cases of sex abnormalities in dogs: An attempt of morphological evaluation involving potential for neoplasia

“…In several cases of sex disturbances in dogs the demonstrated disturbances involved a sex reversal syndrome, with the presence of 78XX chromosomal set and the absence of SRY and/or ZFY gene [9, 12,14,22] or, less frequently, 78XY set with the presence of SRY gene [6]. Cases were also described of disturbances typical of bitches with presence of pyometra in a bitch with a disturbed histological structure of gonads, i.e.…”