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Home / Equine Research Bank / Animals (Basel) / An Unusual Case of Testicular Disorder in Sex Development of...
Animals : an open access journal from MDPI2020; 10(11); 1963; doi: 10.3390/ani10111963

An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative).

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 -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.
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Publication Date: 2020-10-25 PubMed ID: 33113813PubMed Central: PMC7693820DOI: 10.3390/ani10111963Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research paper deals with the peculiar case of an Arabian mare that showed both male and female sexual characteristics, a condition known as ‘disorder of sex development’, despite having a normal female chromosome set (64,XX) but no Y chromosome.

Background and Introduction

  • The study revolves around a unique case of a 3-year-old Arabian mare exhibiting male-like behaviors such as aggressiveness and a masculine posture, despite having a female genetic makeup (64, XX chromosomes).
  • In addition to behavior, the mare also had abnormal physical features such as a shorter anovulvar distance and a penis-like structure protruding from a fused vulvar lip.
  • This intrigued the researchers, leading to further investigations to understand this anomaly using various diagnostic techniques.

Clinical and Cytogenetic Analysis

  • The mare underwent clinical examination, which revealed physical abnormalities such as a short anovulvar distance, dorsally fused vulvar lips, and a penis-like protrusion.
  • Ultrasound examination further revealed a complex internal structure that included elements of both male (testis-like gonads) and female (cervix, uterus) reproductive systems, coupled with unusually low blood testosterone levels.
  • The cytogenetic analysis discovered a strictly female chromosome set (64,XX), contradicting the mare’s mixed physical features and behaviors. Moreover, PCR amplification of SRY and ZFY genes revealed the absence of a Y chromosome, which is essential for male development.

Necroscopic Examination and Findings

  • Following the cytogenetic analysis, a necroscopic examination was carried out which revealed an even more complex picture. The internal genitalia had elements deriving from both male and female embryonic structures.
  • The mare had a masculine developmental structure arising from the genital ridge as well as feminine structures deriving from the Mullerian ducts. An infundibular portion of the salpinx at the cranial pole of the gonads was also found.
  • The mishmash of male and female characteristics observed in this case qualifies as a disorder of sex development (DSD). What makes this case peculiar is that the DSD had a negative 2n = 64,XX condition, i.e., simultaneous presence of both male and female genitals while having a female karyotype.
  • This case is the first of its kind in equine species, shedding new light on DSD and its manifestation in horses.

Cite This Article

APA
Peretti V, Satué K, Ciotola F, Cristarella S, De Majo M, Biondi V, D'Anza E, Albarella S, Quartuccio M. (2020). An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative). Animals (Basel), 10(11), 1963. https://doi.org/10.3390/ani10111963

Publication

Animals : an open access journal from MDPI
ISSN: 2076-2615
NlmUniqueID: 101635614
Country: Switzerland
Language: English
Volume: 10
Issue: 11
PII: 1963

Researcher Affiliations

Peretti, Vincenzo
  • Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy.
Satué, Katiuska
  • Department of Animal Medicine and Surgery, Faculty of Veterinary Medicine, CEU-Cardenal Herrera University, 46115 Valencia, Spain.
Ciotola, Francesca
  • Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy.
Cristarella, Santo
  • Department of Veterinary Sciences, University of Messina, Polo Universitario Annunziata, 98168 Messina, Italy.
De Majo, Massimo
  • Department of Veterinary Sciences, University of Messina, Polo Universitario Annunziata, 98168 Messina, Italy.
Biondi, Vito
  • Department of Veterinary Sciences, University of Messina, Polo Universitario Annunziata, 98168 Messina, Italy.
D'Anza, Emanuele
  • Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy.
Albarella, Sara
  • Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy.
Quartuccio, Marco
  • Department of Veterinary Sciences, University of Messina, Polo Universitario Annunziata, 98168 Messina, Italy.

Conflict of Interest Statement

The authors declare no conflict of interest.

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