A Case of <i>SRY</i>-Positive 38,XY True Hermaphroditism (XY Sex Reversal) in a Cat

Schlafer, D. H.; Valentine, Beth A.; Fahnestock, G.; Froenicke, Lutz; Grahn, Robert A.; Lyons, Leslie A.; Meyers-Wallen, Vicki N.

doi:10.1177/0300985810382093

Cited by 23 publications

(17 citation statements)

References 13 publications

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“…A normal male sex chromosome complement (38,XY) has very often been observed in DSD cats (Nowacka‐Woszuk et al., ; Pienkowska‐Schelling, Becker, Pineroli, & Schelling, ; Reynolds et al., ; Schlafer et al., ). On the contrary, testicular XX DSD was diagnosed only once (De Lorenzi et al., ).…”

Section: Introductionmentioning

confidence: 99%

Disorders of sex development in cats with different complements of sex chromosomes

Szczerbal

Krzemińska

Dzimira

et al. 2018

Reprod Domestic Animals

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The genetic background of disorders of sex development (DSDs) in cats is poorly understood, due to a relatively low number of such studies in this species. Here we present three new DSD cases with different complements of sex chromosomes. The first, an Oriental Shorthair cat with a rudimentary penis, abdominal atrophic testicles and lack of uterus appeared to be a freemartin, since leucocyte chimerism XX/XY and a lack of Y-linked genes (SRY and ZFY) were observed in DNA isolated from hair follicles. XXY trisomy was identified in the second case, a tortoiseshell Devon Rex male cat with atrophic scrotal testicles and a normal penis. Finally, a European Shorthair cat with atrophic testicles in a bifid scrotum, rudimentary penis and a lack of uterus had XY complement, including Y chromosome of normal size and morphology. Also presence of eight Y-linked genes, detected by PCR, was confirmed. Due to the low testosterone level in this last patient, we searched for a causative mutation in two candidate genes (HSD3B2 and HSD17B3) involved in the metabolism of this steroid hormone. Altogether, five polymorphic sites in HSD3B2 and two in HSD17B3 were found, but none of them showed associations with DSD phenotype. We thus excluded a possibility that the causative mutation is present in these genes. In conclusion, we confirmed that analysis of the sex chromosome complement is a crucial step in diagnosis of DSDs. However, extensive molecular studies of the genes involved in sex development are needed to elucidate the causes of DSDs in cats with normal complements of sex chromosomes.

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Section: Introductionmentioning

confidence: 99%

Disorders of sex development in cats with different complements of sex chromosomes

Szczerbal

Krzemińska

Dzimira

et al. 2018

Reprod Domestic Animals

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“…The most frequently reported were isolated cases equivalent to the Klinefelter's syndrome in humans (47XXY) (Leaman et al 1999), monosomy X (Johnston et al 1983, Dybdahl Thomsen et al 1987, Szczerbal et al 2015, isolated hypospadias (King and Johnson 2000), true hermaphroditism (Schlafer et al 2011), abnormal phenotypic sex with the correct set of XY chromosomes or in the case of a translocation between chromosome X and Y (Szczerbal et al 2015). Other types of sex development disorders (XY DSD and XX DSD) or their accompanying changes in cats are described less often.…”

Section: Introductionmentioning

confidence: 99%

Morphological analysis of testicles in cats with disorders of sex development

Dzimira

Niżański

Madej

2017

Polish Journal of Veterinary Sciences

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Disorders of sex development (DSD) are rare in cats. They can be caused by chromosomal aberrations, gene mutations or other undefined factors. The aim of the present study was to compare the histological structure and immunohistochemical reactivity of testes in cats with DSD and in healthy cats. The research material consisted of the gonads of four cats -phenotypic males with an incorrect structure of the reproductive system. The control group consisted of the testes of four healthy cats -routinely castrated phenotypical males. The material was fixed with formalin and embedded in paraffin; the sections were stained with hematoxylin and eosin. The immunohistochemical investigation were performed using monoclonal and polyclonal antibodies directed against desmin, vimentin, actin of smooth muscles, S100 protein and MCM3 protein. The results obtained allow concluding that the testes of cats with DSD differed in certain respects, mainly in the number of blood vessels, from the normal testes. Moreover, the results of immunohistochemical examination indicate that in the testes of cats with DSD the number of supporting cells is lower, the amount of interstitial cells is comparable and spermatogenesis is correct es compared to those determined in the control gonads. The number of blood vessels in cats with DSD is reduced by about 30%. It confirms the recommendations for castration of these animals in order to eliminate the potential inheritance of sex development disorders.

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“…In both cases, the SRY gene was present and the sequences were normal [Ferrer et al, 2009;Schlafer et al, 2011].…”

Section: Xy Sex Reversal In Other Speciesmentioning

confidence: 90%

Sex Reversal in Non-Human Placental Mammals

Parma

Veyrunes

Pailhoux

2016

Sex Dev

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Gonads are very peculiar organs given their bipotential competence. Indeed, early differentiating genital ridges evolve into either of 2 very distinct organs: the testis or the ovary. Accumulating evidence now demonstrates that both genetic pathways must repress the other in order for the organs to differentiate properly, meaning that if this repression is disrupted or attenuated, the other pathway may completely or partially be expressed, leading to disorders of sex development. Among these disorders are the cases of XY male-to-female and XX female-to-male sex reversals as well as true hermaphrodites, in which there is a discrepancy between the chromosomal and gonadal sex. Here, we review known cases of XY and XX sex reversals described in mammals, focusing mostly on domestic animals where sex reversal pathologies occur and on wild species in which deviations from the usual XX/XY system have been documented.

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A Case of SRY-Positive 38,XY True Hermaphroditism (XY Sex Reversal) in a Cat

Cited by 23 publications

References 13 publications

Disorders of sex development in cats with different complements of sex chromosomes

Disorders of sex development in cats with different complements of sex chromosomes

Morphological analysis of testicles in cats with disorders of sex development

Sex Reversal in Non-Human Placental Mammals

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