Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa)
Felipe Vilchis A , Lizette Mares A , Bertha Chávez A , Arcadio Paredes A and Luis Ramos
A B
+ Author Affiliations
- Author Affiliations
A Department of Reproductive Biology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Av. Vasco de Quiroga #15, Tlalpan, C.P. 14080, México City, México.
B Corresponding author. Email: luis.ramost@incmnsz.mx; luigi46xy@hotmail.com
Reproduction, Fertility and Development 32(3) 284-291 https://doi.org/10.1071/RD18514
Submitted: 18 December 2018 Accepted: 15 July 2019 Published: 4 November 2019
Abstract
Here we describe the case of a pig with intersex traits including ambiguous external genitalia, sex chromosome abnormalities and a late-onset vanishing testis-like syndrome. It was identified shortly after birth by presenting a predominantly female phenotype with two large scrotal masses resembling testes. The karyotype is 38,XX (53%)/38,XY (47%). Sex steroid levels were undetectable at 1 and 7 months old, whereas circulating cortisol levels were typical. DNA studies excluded gene alterations in sex-determining region Y (SRY), dosage-sensitive sex reversal-congenital adrenal hypoplasia critical region on the X chromosome protein 1 (DAX1), SRY-related high mobility group-box gene 9 (SOX9), nuclear receptor subfamily 5, group a, member 1 (NR5A1), nuclear receptor subfamily 3, group c, member 4 (NR3C4) and steroid 5-alpha-reductase 2 (SRD5A2). At 8 months of age the XX/XY pig evinced delayed growth; however, the most striking phenotypic change was that the testes-like structures completely vanished in a 2–3-week period. The internal genitalia were found to consist of a portion of a vagina and urethra. No fallopian tubes, uterus or remnants of Wolffian derivatives were observed. More importantly, no testes, ovaries, ovotestis or gonadal streaks could be identified. The XX/XY sex chromosome dosage and/or overexpression of the DAX1 gene on the X chromosome in the presence of a wild-type SRY gene may have caused this predominantly female phenotype. This specimen represents an atypical case of 38,XX/38,XY chimeric, ovotesticular disorder of sex development associated with agonadism.
Additional keywords: disorders of sexual development, ovary, sex chromosomes, sex determination.
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