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A Case of XX Disorder of Sexual Development in a Female-Phenotype Roe Deer (Capreolus capreolus L.) Associated with Antlers Growth with Retained Velvet

SIMPLE SUMMARY: Disorders of sexual development (DSDs) are characterized by incongruity between the genetic and phenotypic sex, which can be caused by anomalies in sex differentiation or gonad sex development, or abnormal sexual-hormone secretion and receptor-expression patterns during embryonic dev...

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Autores principales: Silva, Filipe, Pires, Isabel, Prada, Justina, Queirós, Miguel, Monzón, Aurora, Almeida, José, Sargo, Roberto, Loureiro, Filipa, Sousa, Luís, Valente, Joana, Viegas, Carlos, Ginja, Mário, Bastos, Estela, Martins-Bessa, Ana, Dias, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8996891/
https://www.ncbi.nlm.nih.gov/pubmed/35405854
http://dx.doi.org/10.3390/ani12070865
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author Silva, Filipe
Pires, Isabel
Prada, Justina
Queirós, Miguel
Monzón, Aurora
Almeida, José
Sargo, Roberto
Loureiro, Filipa
Sousa, Luís
Valente, Joana
Viegas, Carlos
Ginja, Mário
Bastos, Estela
Martins-Bessa, Ana
Dias, Isabel
author_facet Silva, Filipe
Pires, Isabel
Prada, Justina
Queirós, Miguel
Monzón, Aurora
Almeida, José
Sargo, Roberto
Loureiro, Filipa
Sousa, Luís
Valente, Joana
Viegas, Carlos
Ginja, Mário
Bastos, Estela
Martins-Bessa, Ana
Dias, Isabel
author_sort Silva, Filipe
collection PubMed
description SIMPLE SUMMARY: Disorders of sexual development (DSDs) are characterized by incongruity between the genetic and phenotypic sex, which can be caused by anomalies in sex differentiation or gonad sex development, or abnormal sexual-hormone secretion and receptor-expression patterns during embryonic development. DSD cases can retain both ovarian and testicular tissues in one single gonad (ovotestis) or in two separate gonads. These disorders have already been described in different mammalian species, including domestic animal species. However, reports of sexual abnormalities in wild species are scarce. The present work reports a specimen of roe deer (Capreolus capreolus L.) with an intersex phenotype, as the animal presented antler growth in the presence of a typically female genital phenotype. A clinical, histopathological, and molecular study was subsequently performed. ABSTRACT: A 3-to-4-year-old roe deer (Capreolus capreolus L.) was admitted to the Veterinary Hospital. Although it showed well-developed antlers with retained velvet, an external female appearance and genitalia were evident. External biometrical measurements were taken for the antlers, and a computed tomography was performed. Molecular studies targeting the SRY gene were performed, and a PIS (polled intersex syndrome) mutation diagnosis was implemented. The gonads consisted of a right testicle paired with a left ovotestis. Histologically, the ovary-like structures in the ovotestis were functional, but the testis, as the testis-like structure in the ovotestis, did not show active spermatogenesis. No evidence of SRY gene was detected by PCR, suggesting an XX-chromosome constitution. Additionally, polled intersex syndrome (PIS) deletion was not detected in the case under study. The clinical and histopathological findings confirmed the DSD with the presence of a testicle and a contralateral ovotestis.
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spelling pubmed-89968912022-04-12 A Case of XX Disorder of Sexual Development in a Female-Phenotype Roe Deer (Capreolus capreolus L.) Associated with Antlers Growth with Retained Velvet Silva, Filipe Pires, Isabel Prada, Justina Queirós, Miguel Monzón, Aurora Almeida, José Sargo, Roberto Loureiro, Filipa Sousa, Luís Valente, Joana Viegas, Carlos Ginja, Mário Bastos, Estela Martins-Bessa, Ana Dias, Isabel Animals (Basel) Case Report SIMPLE SUMMARY: Disorders of sexual development (DSDs) are characterized by incongruity between the genetic and phenotypic sex, which can be caused by anomalies in sex differentiation or gonad sex development, or abnormal sexual-hormone secretion and receptor-expression patterns during embryonic development. DSD cases can retain both ovarian and testicular tissues in one single gonad (ovotestis) or in two separate gonads. These disorders have already been described in different mammalian species, including domestic animal species. However, reports of sexual abnormalities in wild species are scarce. The present work reports a specimen of roe deer (Capreolus capreolus L.) with an intersex phenotype, as the animal presented antler growth in the presence of a typically female genital phenotype. A clinical, histopathological, and molecular study was subsequently performed. ABSTRACT: A 3-to-4-year-old roe deer (Capreolus capreolus L.) was admitted to the Veterinary Hospital. Although it showed well-developed antlers with retained velvet, an external female appearance and genitalia were evident. External biometrical measurements were taken for the antlers, and a computed tomography was performed. Molecular studies targeting the SRY gene were performed, and a PIS (polled intersex syndrome) mutation diagnosis was implemented. The gonads consisted of a right testicle paired with a left ovotestis. Histologically, the ovary-like structures in the ovotestis were functional, but the testis, as the testis-like structure in the ovotestis, did not show active spermatogenesis. No evidence of SRY gene was detected by PCR, suggesting an XX-chromosome constitution. Additionally, polled intersex syndrome (PIS) deletion was not detected in the case under study. The clinical and histopathological findings confirmed the DSD with the presence of a testicle and a contralateral ovotestis. MDPI 2022-03-29 /pmc/articles/PMC8996891/ /pubmed/35405854 http://dx.doi.org/10.3390/ani12070865 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Silva, Filipe
Pires, Isabel
Prada, Justina
Queirós, Miguel
Monzón, Aurora
Almeida, José
Sargo, Roberto
Loureiro, Filipa
Sousa, Luís
Valente, Joana
Viegas, Carlos
Ginja, Mário
Bastos, Estela
Martins-Bessa, Ana
Dias, Isabel
A Case of XX Disorder of Sexual Development in a Female-Phenotype Roe Deer (Capreolus capreolus L.) Associated with Antlers Growth with Retained Velvet
title A Case of XX Disorder of Sexual Development in a Female-Phenotype Roe Deer (Capreolus capreolus L.) Associated with Antlers Growth with Retained Velvet
title_full A Case of XX Disorder of Sexual Development in a Female-Phenotype Roe Deer (Capreolus capreolus L.) Associated with Antlers Growth with Retained Velvet
title_fullStr A Case of XX Disorder of Sexual Development in a Female-Phenotype Roe Deer (Capreolus capreolus L.) Associated with Antlers Growth with Retained Velvet
title_full_unstemmed A Case of XX Disorder of Sexual Development in a Female-Phenotype Roe Deer (Capreolus capreolus L.) Associated with Antlers Growth with Retained Velvet
title_short A Case of XX Disorder of Sexual Development in a Female-Phenotype Roe Deer (Capreolus capreolus L.) Associated with Antlers Growth with Retained Velvet
title_sort case of xx disorder of sexual development in a female-phenotype roe deer (capreolus capreolus l.) associated with antlers growth with retained velvet
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8996891/
https://www.ncbi.nlm.nih.gov/pubmed/35405854
http://dx.doi.org/10.3390/ani12070865
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