A patient with 60, XY and disorders of sex development (DSD) in Gyr Breed Animal

Abstract

An atypical case of sexual development disorder, where the presence of an intersex evidenced in the physical examination, is described in a twin male bull of the Gyr breed. Initially, it was believed that the animal analyzed corresponded to a case of freemartins, having a feminine appearance. In addition, the physical examination of the animal evidenced several abnormalities, had feminized phenotype, smaller size, did not develop male gonads and had a highly developed clitoris in the form of the penis. However, the results of cytogenetic and molecular analysis suggest that the sexual disorder presented in the female is not a case of freemartins and that the female is actually a male who presented a case of intersex. Although in the macroscopic examination of the organs were observed rudiments of what could be vulva, uterine horns and ovaries; the histological evaluation does not show the presence of female cells in these tissues, but if a histological structure of the epididymis is observed. This is an unusual situation of disorders of sex development with genital tract anomalies in cattle, probably associated to a mutation in a gene involved in the proper development of the male gonad.