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An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative)
SIMPLE SUMMARY: An interesting case of a horse with an XX, SRY-negative disorder of sexual development (DSD) is reported in this paper. In particular, the animal showed the development of both male and female portions of reproductive organs. The possible genetic background of this abnormality is als...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693820/ https://www.ncbi.nlm.nih.gov/pubmed/33113813 http://dx.doi.org/10.3390/ani10111963 |
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author | Peretti, Vincenzo Satué, Katiuska Ciotola, Francesca Cristarella, Santo De Majo, Massimo Biondi, Vito D’Anza, Emanuele Albarella, Sara Quartuccio, Marco |
author_facet | Peretti, Vincenzo Satué, Katiuska Ciotola, Francesca Cristarella, Santo De Majo, Massimo Biondi, Vito D’Anza, Emanuele Albarella, Sara Quartuccio, Marco |
author_sort | Peretti, Vincenzo |
collection | PubMed |
description | SIMPLE SUMMARY: An interesting case of a horse with an XX, SRY-negative disorder of sexual development (DSD) is reported in this paper. In particular, the animal showed the development of both male and female portions of reproductive organs. The possible genetic background of this abnormality is also discussed. ABSTRACT: A 3-year-old Arabian mare underwent medical examinations due to the presence of abnormalities of the reproductive apparatus and stallion behavior (nervous temperament, aggressiveness, masculine attitude). During the clinical visit, an anovulvar distance shorter than normal was observed; moreover, vulvar lips were dorsally fused except for the lower neckline, showing a blind ending from which a penis-like structure protruded. The ultrasound examination revealed the presence of a cervix and corpus of a uterus, hypoplastic uterine horns, and small gonads with an echogenicity similar to a testis. Blood testosterone levels ranged from 0.4 to 0.6 ng/mL. Cytogenetic analysis showed a normal female karyotype (2n = 64,XX), while PCR amplification of SRY and ZFY genes revealed the absence of a Y chromosome. At necroscopic examination, internal genitalia arising from the genital ridge in the form of masculine type structures were found, while those deriving from the Mullerian ducts were of feminine type. In addition, an infundibular portion of the salpinx at the cranial pole of the gonads was found. This is the first case in equine species of DSD 2n = 64,XX SRY-negative, with the simultaneous presence of male (hypoplastic testicles, epididymal portions, and a penis-like structure) and female (cervix, horn and body of a hypoplastic uterus) genital structures. |
format | Online Article Text |
id | pubmed-7693820 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-76938202020-11-28 An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative) Peretti, Vincenzo Satué, Katiuska Ciotola, Francesca Cristarella, Santo De Majo, Massimo Biondi, Vito D’Anza, Emanuele Albarella, Sara Quartuccio, Marco Animals (Basel) Case Report SIMPLE SUMMARY: An interesting case of a horse with an XX, SRY-negative disorder of sexual development (DSD) is reported in this paper. In particular, the animal showed the development of both male and female portions of reproductive organs. The possible genetic background of this abnormality is also discussed. ABSTRACT: A 3-year-old Arabian mare underwent medical examinations due to the presence of abnormalities of the reproductive apparatus and stallion behavior (nervous temperament, aggressiveness, masculine attitude). During the clinical visit, an anovulvar distance shorter than normal was observed; moreover, vulvar lips were dorsally fused except for the lower neckline, showing a blind ending from which a penis-like structure protruded. The ultrasound examination revealed the presence of a cervix and corpus of a uterus, hypoplastic uterine horns, and small gonads with an echogenicity similar to a testis. Blood testosterone levels ranged from 0.4 to 0.6 ng/mL. Cytogenetic analysis showed a normal female karyotype (2n = 64,XX), while PCR amplification of SRY and ZFY genes revealed the absence of a Y chromosome. At necroscopic examination, internal genitalia arising from the genital ridge in the form of masculine type structures were found, while those deriving from the Mullerian ducts were of feminine type. In addition, an infundibular portion of the salpinx at the cranial pole of the gonads was found. This is the first case in equine species of DSD 2n = 64,XX SRY-negative, with the simultaneous presence of male (hypoplastic testicles, epididymal portions, and a penis-like structure) and female (cervix, horn and body of a hypoplastic uterus) genital structures. MDPI 2020-10-25 /pmc/articles/PMC7693820/ /pubmed/33113813 http://dx.doi.org/10.3390/ani10111963 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Peretti, Vincenzo Satué, Katiuska Ciotola, Francesca Cristarella, Santo De Majo, Massimo Biondi, Vito D’Anza, Emanuele Albarella, Sara Quartuccio, Marco An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative) |
title | An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative) |
title_full | An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative) |
title_fullStr | An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative) |
title_full_unstemmed | An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative) |
title_short | An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative) |
title_sort | unusual case of testicular disorder in sex development of arabian mare (64,xx sry-negative) |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693820/ https://www.ncbi.nlm.nih.gov/pubmed/33113813 http://dx.doi.org/10.3390/ani10111963 |
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