Pituitary Dwarfism Overview
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Category: Musculoskeletal - Associated with muscles, bones and associated structures
Gene: LIM homeobox 3 (LHX3) on Chromosome 9
Variant Detected: Nucleotide Deletion Deletion of 7 bp (intron 5)
Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
Mode of Inheritance: Autosomal Recessive
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. In Weimaraners, a concurrent immunodeficiency has been documented, where puppies suffer serious recurrent infections and ultimately die from overwhelming infection. In German Shepherds this is an uncommon condition that is inherited as an autosomal recessive trait. In Australia it has been reported that up to 20% of the population may be carriers. A DNA test is available for this condition, and affected puppies are easily recognised, and generally euthanised. Treatment of some dogs has been attempted with symptomatic therapy and depo-progesterone. In general growth hormone is not commercially available, and would only reverse the dwarfism if given very early in the course of the disease. 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.
Research Citation(s): Voorbij, AM. et al. A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs. (2011) PLoS One 6(11);e27940.
Associated Breed(s): German Shepherd Dog, Mixed Breed,