Abortion (embryonic lethality), BTBD17-related

XX DSD (Disorders of Sex Development): XX DSD is a genetic condition where dogs with an XX chromosomal configuration (typically associated with females) display ambiguous or masculinized genitalia. This condition can result from mutations affecting normal sexual differentiation and development. Affected dogs may present with a range of physical abnormalities, such as enlarged clitorises or underdeveloped reproductive structures. While XX DSD does not typically cause pain, it can lead to infertility or complications during breeding. In some cases, surgical or medical intervention may be necessary to address associated health issues or to improve quality of life.

How to Read Your Dog's Test Results for XX DSD:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Likely a Carrier

No Variants Detected: No Effect

Gene / Testing Information: XX DSD is a complex condition influenced by multiple genetic and environmental factors. Identifying specific genetic mutations associated with XX DSD allows for more accurate diagnoses and informed decisions regarding the management and breeding of affected dogs. As the condition often impacts reproductive abilities, genetic testing is a valuable tool for breeders to identify carriers or affected dogs and to prevent passing the condition to future generations. Early diagnosis can also aid in tailoring veterinary care for the individual dog’s needs.
In dogs with 50% or more German Shorthaired Pointer genetic background, the BTBD17 mutation is homozygous lethal. In a mating between two carriers, each embryo has a 25% chance of spontaneously aborting, potentially reducing litter size.