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Testicular Disorder of Sex Development in a Mare With a Low Incidence of SRY‐Positive Cell Line in the Gonads

cris.virtual.author-orcid0000-0002-1041-3576
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dc.abstract.enAn adult mare with ambiguous external genitalia, observed at a slaughterhouse, was subjected to detailed examination. The mare exhibited fused labia and an enlarged clitoris located at the ventral commissure of the vulva. Anatomical and histopathological studies revealed the presence of two testicles, vas deferens, fallopian tubes, a small uterus with blindly ending horns and a normally developed cervix. Cytogenetic analysis, using fluorescent in situ hybridisation (FISH) of in vitro cultured lymphocytes, showed a female karyotype—64,XX. Molecular detection of X- and Y-linked genes (SRY and ZFX/ZFY) in blood cells confirmed the presence of X-linked genes only. In contrast, in hair follicles and gonadal tissue, the presence of genes originating from the Y chromosome was also detected. The use of digital droplet PCR (ddPCR) revealed the presence of a SRY-positive cell line; however, at a very low level (< 5%). Analysis of polymorphic short tandem repeats (STRs), recommended for parentage testing, did not detect chimerism, which would be indicated by the presence of three or four variants at some STR loci. In conclusion, the studied case was classified as a sex chromosome disorder of sex development (DSD) due to gonadal XX/XY mosaicism. To the best of our knowledge, this is the first reported case of such an abnormality in a DSD horse.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.contributor.authorNowacka-Woszuk, Joanna
dc.contributor.authorNiemiec, Anna
dc.contributor.authorDzimira, Stanislaw
dc.contributor.authorRacheniuk, Monika
dc.contributor.authorKaznowski, Arkadiusz
dc.contributor.authorMaćkowski, Mariusz
dc.contributor.authorŚwitoński, Marek
dc.contributor.authorSzczerbal, Izabela
dc.date.accessioned2025-08-26T09:17:11Z
dc.date.available2025-08-26T09:17:11Z
dc.date.issued2025
dc.description.abstract<jats:title>ABSTRACT</jats:title><jats:p>An adult mare with ambiguous external genitalia, observed at a slaughterhouse, was subjected to detailed examination. The mare exhibited fused labia and an enlarged clitoris located at the ventral commissure of the vulva. Anatomical and histopathological studies revealed the presence of two testicles, vas deferens, fallopian tubes, a small uterus with blindly ending horns and a normally developed cervix. Cytogenetic analysis, using fluorescent in situ hybridisation (FISH) of in vitro cultured lymphocytes, showed a female karyotype—64,XX. Molecular detection of X‐ and Y‐linked genes (<jats:italic>SRY</jats:italic> and <jats:italic>ZFX/ZFY</jats:italic>) in blood cells confirmed the presence of X‐linked genes only. In contrast, in hair follicles and gonadal tissue, the presence of genes originating from the Y chromosome was also detected. The use of digital droplet PCR (ddPCR) revealed the presence of a <jats:italic>SRY</jats:italic>‐positive cell line; however, at a very low level (&lt; 5%). Analysis of polymorphic short tandem repeats (STRs), recommended for parentage testing, did not detect chimerism, which would be indicated by the presence of three or four variants at some STR loci. In conclusion, the studied case was classified as a sex chromosome disorder of sex development (DSD) due to gonadal XX/XY mosaicism. To the best of our knowledge, this is the first reported case of such an abnormality in a DSD horse.</jats:p>
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if1,7
dc.description.number8
dc.description.points100
dc.description.volume60
dc.identifier.doi10.1111/rda.70114
dc.identifier.eissn1439-0531
dc.identifier.issn0936-6768
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/4363
dc.languageen
dc.relation.ispartofReproduction in Domestic Animals
dc.relation.pagese70114
dc.rightsClosedAccess
dc.sciencecloudsend
dc.subject.enchimerism
dc.subject.enhorse
dc.subject.enintersexuality
dc.subject.enmosaicism
dc.subject.ensterility
dc.subject.enesticular disorder of sex development
dc.titleTesticular Disorder of Sex Development in a Mare With a Low Incidence of SRY‐Positive Cell Line in the Gonads
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue8
oaire.citation.volume60