An equine intersex with unilateral gonadal agenesis.
Cytogenetic and histological studies have been carried out on an intersex horse which was clinically diagnosed as a cryptorchid. The horse had the general conformation of a stallion but the external genitalia included a well developed vulva and a penis. The right testis which was descended was devoid of germ cells and the left "gonad" located in the cavum vaginale contained neither testicular nor ovarian tissue. The male duct system on both sides were relatively well developed despite the absence of a testis on the left side. Chromosome analysis on cultured cells from the descended testis revealed the presence of four chromosomally-distinct cell types with XX, XY, XXY and XO sex complements indicating a quadruple mosaicism. The presence of polymorphonuclear neutrophils exhibiting a drumstick, in the hemopoietic tissues and a sex chromatin body in the nucleated cells of buccal mucosa suggest that mosaicism prevails in other somatic tissues of the horse. On the basis of information derived from similar conditions in humans and some domestic animals it would appear that this horse resulted from an XXY zygote. The four cell types noted in the horse probably resulted through mitotic mechanisms favouring the loss of an X and a Y at different stages during embryonic development. The absence of gonad on the left side of this horse might be causally related to the preponderance of XO cell types in the somatic blastema during early gonadal differentiation.
D000818:Animals; D002610:Cheek; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D003456:Cryptorchidism / Q000473:pathology / Q000662:veterinary*; D012734:Disorders of Sex Development / Q000473:pathology / Q000662:veterinary*; D005260:Female; D006066:Gonads / Q000254:growth & development / Q000473:pathology; D006734:Horse Diseases; D006736:Horses; D007621:Karyotyping; D008297:Male; D008938:Mitosis; D009030:Mosaicism; D009504:Neutrophils; D012728:Sex Chromatin; D012732:Sex Determination Analysis