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An unusual case of testicular disorder in sex development of Arabian mare (64,XX SRY-Negative)


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Title: An unusual case of testicular disorder in sex development of Arabian mare (64,XX SRY-Negative)
Authors : Peretti, Vincenzo
Satué Ambrojo, Katiuska
Ciotola, Francesca
Cristarella, Santo
De Majo, Massimo
Biondi, Vito
Keywords: Anomalías y malformaciones en los animales.Estro.Estrus.Animals - Abnormalities.Horse breeds - Arabian - Generative organs.Caballos - Razas - Árabe - Reproducción.Horse breeds - Arabian - Reproduction.Caballos - Razas - Árabe - Aparato genital.
Publisher: MDPI
Citation: Peretti, V., Satué, K., Ciotola, F., Cristarella, S., De Majo, M., Biondi, V., et al. (2020). An unusual case of testicular disorder in sex development of Arabian mare (64,XX SRY-Negative). Animals, vol. 10, i. 10 (25 oct.), art. 1963. DOI: https://doi.org/10.3390/ani10111963
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.
Description: Este artículo se encuentra disponible en la siguiente URL: https://www.mdpi.com/2076-2615/10/11/1963
En esta investigación también participan: Emanuele D'Anza, Sara Albarella y Marco Quartuccio.
Este artículo pertenece al número especial "Congenital malformation in domestic animals".
URI: http://hdl.handle.net/10637/12480
Rights : http://creativecommons.org/licenses/by/4.0/deed.es
ISSN: 2076-2615 (Electrónico).
Issue Date: 25-Oct-2020
Center : Universidad Cardenal Herrera-CEU
Appears in Collections:Dpto. Medicina y Cirugía Animal





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