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Pituitary Dwarfism / Combined Pituitary Hormone Deficiency (CPHD)
| Acronym: | CPHD |
| Gene: | LHX3 |
| Mutation: | c.622-37-31del, c.545_547dupACA |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
In dogs, pituitary dwarfism is the most common manifestation of combined pituitary hormone deficiency. It is characterized by a combined deficiency of growth hormone (GH), thyroid stimulating hormone (TSH), prolactin, and gonadotropins. The hormone deficiencies can lead to a wide range of clinical manifestations, but the most common ones have marked growth retardation, retention of lanugo or secondary hairs (so-called puppy hair coat) with concurrent lack of primary or guard hairs, and bilateral symmetrical alopecia. It is caused by a mutation in a gene coding for LHX3 protein, a member of the protein family of DNA-binding transcription factors, which is an essential regulator of pituitary development.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Voorbij, A.M.W.Y., van Steenbeek, F.G., Vos-Loohuis, M., Martens, E.E.C.P., Hanson-Nilsson, J.M., van Oost, B.A., Kooistra, H.S., and Leegwater, P.A. (2011). A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs. PLoS ONE 6, e27940.
Voorbij, A. m. w. y., Leegwater, P. a., and Kooistra, H. s. (2014). Pituitary Dwarfism in Saarloos and Czechoslovakian Wolfdogs is Associated with a Mutation in LHX3. J Vet Intern Med 28, 1770–1774.
Andresen, E. (1976.): Pituitary dwarfism in German shepherd dogs: additional evidence of simple, autosomal recessive inheritance. Nord Vet Med. 1976 Oct;28(10):481-6.