XX Disorder of Sex Development

General Information: XX Disorder of Sex Development (DSD) in dogs is a rare genetic condition caused by a mutation in the BTBD17 gene. This disorder affects the normal development of sexual characteristics, leading to abnormalities in the sexual organs and secondary sexual traits. The mutation in the BTBD17 gene disrupts the signaling pathways involved in the differentiation of gonads and other reproductive tissues. This condition is inherited in an Autosomal Recessive manner, meaning that both copies of the mutated gene must be inherited for a dog to be affected.

Dogs with XX DSD may present with a variety of symptoms, including ambiguous genitalia, underdeveloped or absent reproductive organs, and a lack of secondary sexual characteristics that are typically seen during puberty. In some cases, affected dogs may experience infertility or other reproductive issues. While the physical abnormalities are often noticeable at birth or early development, the condition can vary in severity. Management may involve hormone therapy or surgical intervention, depending on the specific nature of the disorder.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Carrier

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the BTBD17 gene variant can help determine whether a dog is at risk of developing XX Disorder of Sex Development (DSD). This disorder is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene—one from each parent—to be affected. Dogs with one copy of the mutation are considered carriers and will not show symptoms but may pass the mutation on to their offspring. Dogs with no copies of the mutation will not be affected and cannot pass the condition to their puppies. Genetic testing is important for responsible breeding practices to avoid passing the condition on to future generations.