Peer-reviewed veterinary case report
Cat with ambiguous genitalia caused by rare chromosome mosaicism
By Szczerbal, I et al.·Published in Reproduction in domestic animals = Zuchthygiene·2017·Department of Genetics and Animal Breeding·View original on PubMed →
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Original publication title: Disorder of sex development in a cat with chromosome mosaicism 37,X/38,X,r(Y).
- Species:
- cat
Plain-English summary
An 18-month-old European shorthair cat was brought in because it had ambiguous external genitalia, with both an underdeveloped penis and scrotum. Further tests showed that the cat had abdominal testes that were not fully developed and a uterus. Genetic analysis revealed a rare chromosomal condition that affected the cat's reproductive system, leading to sterility. Unfortunately, due to this condition, the cat is unable to reproduce.
People also search for: cat ambiguous genitalia · cat reproductive problems · cat sterility causes · European shorthair genetic issues
Abstract
An 18-month-old European shorthair cat was subjected to genetic studies due to ambiguous external genitalia (underdeveloped both penis and scrotum). Further anatomic and histopathological studies revealed the presence of abdominal, atrophic testes and uterus. Cytogenetic analysis showed two cell lines, one with X monosomy-37,X [90% of the analysed metaphase spreads], and other line had 38 chromosomes with normal X chromosome and abnormally small Y-derived chromosome-38,X,der(Y) [10%]. Further fluorescence in situ hybridization study with telomeric probe revealed a ring structure of the der(Y). Eight Y chromosome-specific genes, SRY, TETY1, TETY2, CUL4BY, CYORF15, HSFY, FLJ36031Y and ZFY, were detected. We conclude that the described abnormality of the reproductive system, leading to sterility, was caused by a very rare type of chromosomal mosaicism-37,X/38,X,r(Y).
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/28370681/