Bilateral Leydig Cell Tumor in a Six-Year-Old Intersex Goat Affected by Polled Intersex Syndrome

Abstract

Abstract. A 6-year-old, sterile, Blanca Celtibérica breed adult doe was referred to our faculty. The doe had external female genitalia, a short anogenital distance, and normally shaped udders. Masculinization signs in the head shape and male behavior were also noted at the time of referral. Genetic analysis demonstrated normal 2n 5 60 XX karyotype and an absence of the sex-determining region Y (SRY). The animal was homozygous for a DNA deletion responsible for the Polled Intersex Syndrome (PIS). A uterus and 2 uterine horns were present at the postmortem examination. Gartner's ducts and degenerated Wolffian derivatives persisted. There were 2 intra-abdominal testicle-like structures, one of which consisted of epididymal and deferent ducts. An advanced Leydig cell tumor, resulting in almost total destruction of the intratesticular structures, was also observed. Leydig cell tumors usually produce testosterone. Thus, these histologic findings are compatible with the evident virilization.

Bilateral Sertoli and Interstitial Cell Tumours in Abdominal Testes of a Goat with Polled Intersex Syndrome (PIS)

“…Bilateral interstitial cell tumours have been described in a single PIS goat, which is the only report of an interstitial cell tumour in a goat apart from the present case (Monteagudo et al. ).…”

“…There, polymerase chain reaction (PCR) was performed according to methodology previously described (Monteagudo et al. ) to evaluate the presence of PIS deletion, SRY gene, MCM527 microsatellite and Y chromosome fragments as described (Hulme et al. ).…”

Polled Intersex Syndrome with Urethral Atresia in a Goat

“…For polymerase chain reaction (PCR) of the sex-determining region Y (SRY), genomic DNA was isolated from the blood samples of the goat and its parents as positive and negative controls. The primers and PCR conditions were identical to that mentioned in a previous report [7]. The PCR product was then separated by agarose gel electrophoresis, stained with ethidium bromide, and photographed in ultraviolet light.…”

“…The primers and PCR conditions were the same as that mentioned in a previous report [7]. Additionally, β-globin (a 113-bp fragment) was also amplified as an internal control, according to previous report [6].…”

“…Leydig cells appear to be active in a 3-month-old PIS affected goat, secreting testosterone at an early age. An adult PIS-/-goat diagnosed with advanced Leydig cell tumor probably became hyperandrogenism [7]. Although the mortality of PIS goats remains obscure, the risk of testicular tumors may increase.…”