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Non-mosaic X monosomy (77,X) in a female dog with signs of virilization

A 14-month-old female Miniature Poodle dog with an enlarged clitoris and asymmetry in the placement of the teats was subjected to clinical, histopathological, and genetic studies. Macroscopically, the uterus and fallopian tubes appeared normal, while both ovaries were diffusely altered. At histology...

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Autores principales: Szczerbal, Izabela, Malek, Emilian, Rigillo, Antonella, Lukomska, Anna, Kacprzak, Kamil, Gasparini, Stefania, Nowacka-Woszuk, Joanna, Stachowiak, Monika, Aksoy, Mehmet O., Switonski, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9836978/
https://www.ncbi.nlm.nih.gov/pubmed/36441391
http://dx.doi.org/10.1007/s13353-022-00739-3
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author Szczerbal, Izabela
Malek, Emilian
Rigillo, Antonella
Lukomska, Anna
Kacprzak, Kamil
Gasparini, Stefania
Nowacka-Woszuk, Joanna
Stachowiak, Monika
Aksoy, Mehmet O.
Switonski, Marek
author_facet Szczerbal, Izabela
Malek, Emilian
Rigillo, Antonella
Lukomska, Anna
Kacprzak, Kamil
Gasparini, Stefania
Nowacka-Woszuk, Joanna
Stachowiak, Monika
Aksoy, Mehmet O.
Switonski, Marek
author_sort Szczerbal, Izabela
collection PubMed
description A 14-month-old female Miniature Poodle dog with an enlarged clitoris and asymmetry in the placement of the teats was subjected to clinical, histopathological, and genetic studies. Macroscopically, the uterus and fallopian tubes appeared normal, while both ovaries were diffusely altered. At histology, the ovarian parenchyma was almost completely effaced by a diffuse hyperplasia of theca cells with atretic primary follicles. Chromosome analysis showed pure (non-mosaic) X monosomy (77,X). This finding was confirmed by the highly sensitive droplet digital PCR (ddPCR) approach. Despite the observed virilization, molecular analysis did not show the presence of Y-linked genes (SRY, ZFY, and TSPY1) in the blood cells or ovary tissue. To the best of our knowledge, this is the first case of X monosomy in a dog associated with virilization. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s13353-022-00739-3.
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spelling pubmed-98369782023-01-14 Non-mosaic X monosomy (77,X) in a female dog with signs of virilization Szczerbal, Izabela Malek, Emilian Rigillo, Antonella Lukomska, Anna Kacprzak, Kamil Gasparini, Stefania Nowacka-Woszuk, Joanna Stachowiak, Monika Aksoy, Mehmet O. Switonski, Marek J Appl Genet Animal Genetics • Short Communication A 14-month-old female Miniature Poodle dog with an enlarged clitoris and asymmetry in the placement of the teats was subjected to clinical, histopathological, and genetic studies. Macroscopically, the uterus and fallopian tubes appeared normal, while both ovaries were diffusely altered. At histology, the ovarian parenchyma was almost completely effaced by a diffuse hyperplasia of theca cells with atretic primary follicles. Chromosome analysis showed pure (non-mosaic) X monosomy (77,X). This finding was confirmed by the highly sensitive droplet digital PCR (ddPCR) approach. Despite the observed virilization, molecular analysis did not show the presence of Y-linked genes (SRY, ZFY, and TSPY1) in the blood cells or ovary tissue. To the best of our knowledge, this is the first case of X monosomy in a dog associated with virilization. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s13353-022-00739-3. Springer Berlin Heidelberg 2022-11-28 2023 /pmc/articles/PMC9836978/ /pubmed/36441391 http://dx.doi.org/10.1007/s13353-022-00739-3 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Animal Genetics • Short Communication
Szczerbal, Izabela
Malek, Emilian
Rigillo, Antonella
Lukomska, Anna
Kacprzak, Kamil
Gasparini, Stefania
Nowacka-Woszuk, Joanna
Stachowiak, Monika
Aksoy, Mehmet O.
Switonski, Marek
Non-mosaic X monosomy (77,X) in a female dog with signs of virilization
title Non-mosaic X monosomy (77,X) in a female dog with signs of virilization
title_full Non-mosaic X monosomy (77,X) in a female dog with signs of virilization
title_fullStr Non-mosaic X monosomy (77,X) in a female dog with signs of virilization
title_full_unstemmed Non-mosaic X monosomy (77,X) in a female dog with signs of virilization
title_short Non-mosaic X monosomy (77,X) in a female dog with signs of virilization
title_sort non-mosaic x monosomy (77,x) in a female dog with signs of virilization
topic Animal Genetics • Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9836978/
https://www.ncbi.nlm.nih.gov/pubmed/36441391
http://dx.doi.org/10.1007/s13353-022-00739-3
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