Evidence map›Paper›PMID 38971779›Full record

ArticleBMC veterinary research2024

Unusual sex chromosomal DSD in a domestic Shorthair cat with a 37,X/38,XY mosaic karyotype.

L Montenegro, I Costa, L Maltez, V Evaristo, I R Dias, C Martins, I Borges, F Morinha, R Pereira, N Neto and 2 more

Abstract readCase Reports
In one paragraph

Article in BMC veterinary research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

L MontenegroVeterinary Hospital Referência Veterinária Montenegro, Porto, 4000-395, Portugal.
I CostaVeterinary Hospital Referência Veterinária Montenegro, Porto, 4000-395, Portugal.
L MaltezAnimal and Veterinary Research Center (CECAV), University of Trás-os-Montes and Alto Douro (UTAD), Vila Real, 5000-801, Portugal.
V EvaristoVeterinary Hospital Referência Veterinária Montenegro, Porto, 4000-395, Portugal.
I R DiasAnimal and Veterinary Research Center (CECAV), University of Trás-os-Montes and Alto Douro (UTAD), Vila Real, 5000-801, Portugal.
C MartinsCanidelo Veterinary Clinic - OneVet Group, Vila Nova de Gaia, 4400-710, Portugal.
I BorgesCedivet, Lionessa Business Hub, Leça do Balio, 4465-671, Portugal.
F MorinhaMorinha Lab- Laboratory of Biodiversity and Molecular Genetics, Vila Real, 5000-562, Portugal.
R PereiraLaboratory of Cell Biology, Department of Microscopy, ICBAS‑School of Medicine and Biomedical Sciences, University of Porto, Porto, 4050‑313, Portugal.
N NetoUMIB‑Unit for Multidisciplinary Research in Biomedicine, ICBAS‑UP/ ITR‑Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, 4050‑313, Portugal.
C OliveiraUMIB‑Unit for Multidisciplinary Research in Biomedicine, ICBAS‑UP/ ITR‑Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, 4050‑313, Portugal.
A Martins-BessaAnimal and Veterinary Research Center (CECAV), University of Trás-os-Montes and Alto Douro (UTAD), Vila Real, 5000-801, Portugal. abessa@utad.pt.

Funding

Fundação para a Ciência e a Tecnologia 10.54499/UIDB/00772/2020Fundação para a Ciência e a Tecnologia UIDB/00215/2020
6 · The paper itself

Abstract

backgroundSex chromosome abnormalities associated with disorders of sexual development (DSD) are rarely described in cats, mainly due to the lack of chromossome studies that precisely reveal the condition. Genetic approaches are therefore required in order to detect sex chromossomes abnormalities as variations in the number and structure of chromosomes, or the presence of a second cell line as mosaicim or chimerism. CASE PRESENTATION: A male Shorthair cryptorchid cat was presented with clinical signs of anorexia, tenesmus and hyperthermia. Ultrasonography revealed a fluid-filled structure, with approximately 1 cm in diameter, adjacent to the descending colon. Computed tomography evidenced a tubular structure, ventral to the descending colon and caudal to the bladder, which extended cranially, through two branches. Histopathological evaluation confirmed the presence of two atrophic uterine horns and one hypoplastic testicle with epididymis at the end of one of the uterine horns. The end of the other uterine horn was attached to a structure composed by a mass of adipocytes. Cytogenetic analysis revealed a mosaic 37,X/38,XY karyotype. The two cell lines were found in 15% and 85% of the lymphocytes, respectively. Genetic analysis confirmed the presence of SRY and ZFY genes in blood and hair bulbs, and revealed a marked reduction in SRY expression in the testicle. Additionally, this case presented exceptionally rare features, such as a Leydig' cell tumour and a chronic endometritis in both uterine horns.

conclusionsComplete imaging workup, cytogenetic analysis and SRY gene expression should be systematically realized, in order to properly classify disorders of sexual development (DSD) in cats.

Indexed as

Cat DiseasesKaryotypeMosaicismAnimalsCatsDisorders of Sex DevelopmentMaleCatDisorder of sexual developmentGonadal dysgenesisMosaicismSRYX/XY karyotype

Identifiers

PMID38971779
PMCPMC11227180

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