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H872

Pituitary Dwarfism is a condition characterized by a combined deficiency of growth hormone (GH), thyroid-stimulating hormone (TSH), prolactin, and gonadotropins.

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Specifications

Breeds

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Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Pituitary Dwarfism is a condition characterized by a combined deficiency of growth hormone (GH), thyroid-stimulating hormone (TSH), prolactin, and gonadotropins. It is caused by an autosomal recessive mutation in the LIM homeobox 3 (LHX3) gene. Due to this mutation, the pituitary glands of affected dogs fail to develop normally, leading to a deficiency of multiple hormones essential for growth and development. This condition has been observed in German Shepherd Dogs, Czechoslovakian Wolfdogs, and Saarloos Wolfdogs.

Clinical features

Affected dogs are noticeably smaller than their littermates by 2 to 3 months of age, and will never reach full adult size. Other clinical symptoms include retention of secondary hairs (puppy coat) with a concurrent lack of primary or guard hairs, and bilateral symmetrical alopecia. As the disease progresses, severe alopecia becomes apparent. If left untreated, affected dogs often die or are humanely euthanized by five years of age due to a severely diminished quality of life.

Additional information

References

Pubmed ID: 22132174

Omia ID: 2314

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