Pituitary Dwarfism

hormone

This variant in the POU1F1 gene causes proportionately small stature and coat abnormalities. Affected dogs are typically hypothyroid as well.

  • Signs and symptoms

    Affected dogs will have a proportionately small stature and coat abnormalities including a puppy-like (lanugo) coat that lacks most primary or guard hairs. The skin may appear thin and dark (hyperpigmented) with signs of inflammation. Dogs may experience gradual hair loss and delayed or absent tooth development. There may also be reproductive abnormalities.

    Clinical signs may be visible as early as a few weeks of life, but coat abnormalities and small size may not be clear until puppies are older. Affected dogs may need to be intensively nursed and hand-reared, which may lead to hypopituitarism being undiagnosed and labeled as “failure to thrive.”

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  • Diagnosis

    Clinical history, genetic testing, and laboratory testing can be used in conjunction to diagnose Pituitary Dwarfism. Because this form of Pituitary Dwarfism is the result of combined pituitary hormone deficiency, in most affected dogs there is also secondary hypothyroidism.

  • Treatment

    One or more hormones may require supplementation as prescribed by your veterinarian.

  • What to do if your dog is at risk

    Actions

    • Thyroid hormone replacement should be started as soon as there is evidence of secondary hypothyroidism. Follow your vet's advice regarding dosing and blood level monitoring.
    • Treatment often does not result in a significant increase in body size, because the growth plates in most dwarfs have already closed or are about to close at the time growth hormone treatment is initiated — thus, genetic testing might lead to earlier intervention and a better outcome.

  • Genetic Information

    This variant was first identified in Karelian Bear Dogs.

    Pituitary Dwarfism is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the variant to show clinical signs from it.

    Gene names:

    POU1F1 Intron 4 ‐ chr31

    Inheritance type:

    recessive

  • Breeds affected

    This health condition affects the following breeds

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