A case of ovine female XY sex reversal syndrome not related to anomalies in the sex-determining region Y (SRY)

Abstract

The human XY gonadal sex reversal is a rare disease. Primary amenorrhea, lack of secondary sexual characteristics and the possible existence of streak gonads are the most common signs of this syndrome. Five cases of this syndrome have been described in the last 42 years in bovines. However, to the knowledge of the authors, no similar descriptions are available in sheep. In the present report, we are presenting the case of a 4 year old ewe 2n = 54,XY showing primary sterility and total absence of masculinization signs. The promoter and the complete coding segment of the sex determining region Y (SRY) were sequenced and found to be absolutely normal. The presence of the testis-specific protein gene (TSPY) was also verified by means of PCR. Necropsy findings include short vagina, lack of uterus and complete absence of masculine remains. Streak gonads concordant with previous descriptions in humans were also found.