OMIA 002310-9913 : 60,XX/90,XXY DSD (Disorder of Sexual Development) in Bos taurus

Mendelian trait/disorder: no

Considered a defect: yes

Key variant known: no

Cross-species summary: Disorder of Sexual Development (DSD) due to diploid/triploid (60,XX/90,XXY) mosaicism

Species-specific description: Szczerbal et al. (2021) "describe an eighteen-month-old Holstein-Friesian heifer with a deformed vulva, located abdominally. The heifer showed typical signs of estrus. A comprehensive anatomical and histopathological examination revealed a blind-ended vagina and an additional section of urethra, which became a part of the shortened penis. Cytogenetic analysis showed the presence of two cell lines: 60,XX and 90,XXY."

Breed: Holstein Friesian.


2021 Szczerbal, I., Komosa, M., Nowacka-Woszuk, J., Uzar, T., Houszka, M., Semrau, J., Musial, M., Barczykowski, M., Lukomska, A., Switonski, M. :
A disorder of sex development in a Holstein-Friesian heifer with a rare mosaicism (60,XX/90,XXY): A genetic, anatomical, and histological study. Animals (Basel) 11:, 2021. Pubmed reference: 33498673. DOI: 10.3390/ani11020285.

Edit History

  • Created by Imke Tammen2 on 18 Feb 2021
  • Changed by Imke Tammen2 on 18 Feb 2021