Pituitary Dwarfism – Shepherd Type
Kodas: H872
Short description
Pituitary Dwarfism is a condition characterized by a combined deficiency of growth hormone (GH), thyroid-stimulating hormone (TSH), prolactin, and gonadotropins.
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, White Swiss Shepherds, and Saarloos Wolfdogs.
Specifications
| Breeds | Czechoslovakian Vlcak, German Shepherd, Saarloos Wolfdog, Tibetan Terrier, White Swiss shepherd |
|---|---|
| Gene | LHX3 |
| Chromosome | 9 |
| Mutation | a deletion of one of six 7 bp [GTGTTTT] repeats in intron 5 |
| Organ | Endocrine glands |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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.
References
Pubmed ID: 22132174
Year published: 2011
Omia ID: 2314
Omia variant ID:
Turnaround information
- 10 working days