Pituitary dwarfism / combined pituitary hormone deficiency (POU1F1-related) - Karelian Bear Dog

What does this test examine?

This genetic test analyses the POU1F1 c.605-3C>A variant in the Karelian Bear Dog. The disorder is known as pituitary dwarfism, hypopituitarism dwarfism, combined pituitary hormone deficiency or CPHD. The gene involved is important for normal development and function of the pituitary gland, which controls growth hormone, thyroid-stimulating hormone, prolactin and gonadotropins.

What does pituitary dwarfism mean?

Affected puppies may initially appear to grow normally, but soon become clearly smaller than littermates. They can remain proportionally small, retain puppy coat, fail to develop normal guard hairs, develop symmetrical hair loss and show skin problems. Because multiple hormones are deficient, the condition affects more than size alone: growth, coat, metabolism, fertility and general condition may all be involved.

Inheritance and result

This form follows autosomal recessive inheritance. Carriers have one copy of the variant and are usually normal themselves, but can pass the variant on. Dogs with two copies have the affected genetic result for the tested form of pituitary dwarfism. The test identifies carriers before two carriers are unknowingly bred together.

Practical value of this test

For breeders this is direct decision support: the result shows which dogs are clear, carriers or genetically affected and helps prevent a serious hormonal growth disorder appearing unexpectedly in a litter. For owners and veterinarians, the result helps genetically explain poor growth, coat abnormalities or family risk and supports targeted testing of related dogs.

Result in brief

• Clear: the tested variant was not detected.
• Carrier: one copy is present and can be passed on.
• Affected genetic result: two copies cause the tested autosomal recessive form of pituitary dwarfism.