Teratoma Associated With Testicular Tissue in a Female-Like Horse With 64,XY (SRY-Positive) Disorder of Sex Development

Silva, Elisa Sant'Anna Monteiro da; Delfiol, Diego José Zanzarini; Fabris, Viciany Henrique; Santos, Bruna Mendonça; Nogueira, Geison Morel; Guimarães, Gilmar Breno Oliveira; Nogueira, Pedro Paulo de Oliveira; Mota, Lígia Souza Lima Silveira da

doi:10.1016/j.jevs.2020.103177

Cited by 1 publication

(1 citation statement)

References 18 publications

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“…This group of XY DSDs encompasses female-like horses showing various degrees of masculinization and virilization, as well as stallion-like behavior. These horses usually have abnormally developed genital tract, the gonads can range from ovotestes to testicular feminization, and the cases are described as male pseudohermaphrodites, intersex or ambiguous sex [28,44,133,134,136,137,[145][146][147][148][149].…”

Section: Cytogenetics Of Sex Reversal Conditionsmentioning

confidence: 99%

Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings

Bugno‐Poniewierska

Raudsepp

2021

Animals

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Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects. Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2–5% of the general population. Among the many chromosome abnormalities reported in the horse, most are unique or rare. However, all surveys agree that there are two recurrent conditions: X-monosomy and SRY-negative XY male-to-female sex reversal, making up approximately 35% and 11% of all chromosome abnormalities, respectively. The two are signature conditions for the horse and rare or absent in other domestic species. The progress in equine genomics and the development of molecular tools, have qualitatively improved clinical cytogenetics today, allowing for refined characterization of aberrations and understanding the underlying molecular mechanisms. While cutting-edge genomics tools promise further improvements in chromosome analysis, they will not entirely replace traditional cytogenetics, which still is the most straightforward, cost-effective, and fastest approach for the initial evaluation of potential breeding animals and horses with reproductive or developmental disorders.

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