XY sex reversal, NR5A1-related
XY sex reversal · NR5A1-related DSD · Disorder of Sex Development · XY Gonadal Dysgenesis · Geschlechtsumkehr beim Hund
What it is
This is a genetic disorder of sexual development affecting the reproductive system, where dogs that are genetically male (having XY chromosomes) develop female or ambiguous reproductive organs. It is caused by a defect in the NR5A1 gene, which is crucial for normal male sexual development. This specific genetic variant was first identified in 2020 as a large deletion in a Yorkshire Terrier.
How it presents
Affected dogs typically look female on the outside but are infertile and have underdeveloped male or mixed reproductive organs internally. Owners usually notice these signs within the first year of life, often due to a lack of heat cycles.
Treatment
The underlying condition cannot be cured, but it is managed with a one-time surgery to remove the internal reproductive organs to prevent future tumors or infections. This surgical procedure typically costs between 600 and 2500 EUR.
How it's tested
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.