Pituitary Dwarfism (Karelian Bear Dog Type)

$50

(ONLINE PRICE)

ADD TO CART

Test Overview:

In this condition an abnormality of the pituitary gland leads to a lack of growth hormone (and possibly other hormones such as thyroid hormone and adrenal gland hormones). This causes a failure to grow, and retention of the puppy coat. As the condition progresses generalised hair loss and darkening of the skin is seen. The skin may also become thin and scaly. Behavioural abnormalities such as aggression and failure of the reproductive organs to develop may also be seen.Pituitary dwarfism is easily distinguished from osteochondrodysplasia, sometimes called chondrodysplastic dwarfism, which is a congenital condition affecting the long bones of the legs, resulting in very short legs. The rest of the dog is relatively normal in appearance with chondrodysplastic dwarfism.

Category:

Endocrine - Associated with hormone-producing organs

Gene:

POU1F1

Variant Detected:

C>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the POU1F1 gene will reliably determine if a dog is a genetic carrier of Pituitary Dwarfism.

Research Citation(s):

Kyöstilä K, Niskanen JE, Arumilli M, Donner J, Hytönen MK, Lohi H. Intronic variant in POU1F1 associated with canine pituitary dwarfism. Hum Genet. 2021 Nov;140(11):1553-1562. doi: 10.1007/s00439-021-02259-2. Epub 2021 Feb 6. PMID: 33550451; PMCID: PMC8519942.

Associated Breed(s):

Karelian Bear Dog, Unknown,