The detail information of Pituitary dwarfism
Basic Information

Disease Ontology ID: DDTO:0000798

Disease Description: A developmental abnormality resulting in an undersized animal due to a defective pituitary gland.

Inherit Mode: In German shepherds and Carnelian bear dogs the disorder is inherited as a simple autosomal recessive trait. The mode of inheritance has not been demonstrated for other affected breeds.

Disease Symptom: Breeders or owners will usually notice abnormalities by 2 or 3 months of age. The signs caused by a deficiency of pituitary growth hormone (somatotropin) include slow growth rate, retained puppy coat and eventual hairlessness, darkening of the skin, delayed eruption of permanent teeth, suppressed immune responses, and an altered mental state. These pups are proportionate dwarves - that is, they are of small stature but normal proportions - and they often have a shrill bark. Other hormones produced by the pituitary gland are also decreased and this causes abnormalities in thyroid, adrenal, and gonadal function. Most dogs affected with this condition will have shortened lifespans.

Disease Cause: -

Disease Diagnose: The diagnosis is usually made based on the history and characteristic clinical signs in a young dog. Your veterinarian will want to rule out other possible causes of delayed growth.

Treat Method: Dogs are treated with replacement growth hormone (GH), which is expensive and difficult to obtain. Treated dogs must be monitored for the development of diabetes mellitus which is a potential side effect of GH therapy. Secondary hypothyroidism and hypoadrenocorticism can also be treated if indicated.

Breeder Advice: This condition is generally apparent before dogs are sold. Breeders should avoid breeding parents of affected dogs.

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Dwarfism, pituitary, generic - Autosomal Recessive -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB252 Weimaraner Friendly, fearless, alert, obedient 63.5-68.6 cm (male), 58.4-63.5 cm (female) 31.8-40.8 kg (male), 24.9-34 kg (female) Germany
CB140 Karelian Bear Dog Loyal, Independent, Courageous 19-23.5 inches 44-49 pounds Finland
CB111 German Short-Haired Pointer Friendly, smart, willing to please 58.4-63.5 cm (male), 53.3-58.4 cm (female) 24.9-31.8 kg (male), 20.4-27.2 kg (female) Germany
Associated Disease Variants from OMIA
Gene Differential Expression
References
2021 Kyöstilä,K.,Niskanen,J.E.,Arumilli,M.,Donner,J.,Hytönen,M.K.,Lohi,H.: :
Intronic variant in POU1F1 associated with canine pituitary dwarfism. Hum Genet :, 2021.
Pubmed reference: 33550451 . DOI: 10.1007/s00439-021-02259-2 .
2015 Voorbij,A.M.,Meij,B.P.,vanBruggen,L.W.,Grinwis,G.C.,Stassen,Q.E.,Kooistra,H.S.: :
Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation. J Vet Intern Med 29:207-13, 2015.
Pubmed reference: 25586673 . DOI: 10.1111/jvim.12523 .
2014 Voorbij,A.M.,Leegwater,P.A.,Kooistra,H.S.: :
Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014.
Pubmed reference: 25273400 . DOI: 10.1111/jvim.12448 .
2012 Tsai,K.L.,Noorai,R.E.,Starr-Moss,A.N.,Quignon,P.,Rinz,C.J.,Ostrander,E.A.,Steiner,J.M.,Murphy,K.E.,Clark,L.A.: :
Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome 23:203-11, 2012.
Pubmed reference: 22105877 . DOI: 10.1007/s00335-011-9376-9 .
2011 Voorbij,A.M.,vanSteenbeek,F.G.,Vos-Loohuis,M.,Martens,E.E.,Hanson-Nilsson,J.M.,vanOost,B.A.,Kooistra,H.S.,Leegwater,P.A.: :
A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs. PLoS One 6:e27940, 2011.
Pubmed reference: 22132174 . DOI: 10.1371/journal.pone.0027940 .
2010 Voorbij,A.M.,Leegwater,P.A.,Kooistra,H.S.: :
[Hypopituitarism associated dwarfism in German Shepherds, saarloos wolf dogs and Czechoslovakian wolf dogs. Access to genetic testing]. Tijdschr Diergeneeskd 135:950-4, 2010.
Pubmed reference: 21287722 .
2009 Voorbij,A.M.W.Y.,Kooistra,H.S.: :
Pituitary Dwarfism in German Shepherd Dogs JCVS 2:4-11, 2009.
2006 Hanson,JM.,Mol,JA.,Leegwater,PA.,Kooistra,HS.,Meij,BP.: :
The leukemia inhibitory factor receptor gene is not involved in the etiology of pituitary dwarfism in German shepherd dogs. Res Vet Sci 81:316-20, 2006.
Pubmed reference: 16624355 . DOI: 10.1016/j.rvsc.2006.03.001 .
2006 Bhatti,SF.,DeVliegher,SP.,Mol,JA.,VanHam,LM.,Kooistra,HS.: :
Ghrelin-stimulation test in the diagnosis of canine pituitary dwarfism. Res Vet Sci 81:24-30, 2006.
Pubmed reference: 16271735 . DOI: 10.1016/j.rvsc.2005.09.009 .
2002 Knottenbelt,C.M.,Herrtage,M.E.: :
Use of proligestone in the management of three German shepherd dogs with pituitary dwarfism Journal of Small Animal Practice 43:164-170, 2002.
Pubmed reference: 11996393 .
2002 vanOost,B.A.,Versteeg,S.A.,Imholz,S.,Kooistra,H.S.: :
Exclusion of the lim homeodomain gene LHX4 as a candidate gene for pituitary dwarfism in German shepherd dogs Molecular & Cellular Endocrinology 197:57-62, 2002.
Pubmed reference: 12431796 .
2000 Everts,R.E.,Hazewinkel,H.A.W.,Rothuizen,J.,van,Oost,B.A.: :
Bone disorders in the dog: A review of modern genetic strategies to find the underlying causes [Review] Veterinary Quarterly 22:63-70, 2000.
Pubmed reference: 10789512 .
2000 Kooistra,H.S.,Voorhout,G.,Mol,J.A.,Rijnberk,A.: :
Combined pituitary hormone deficiency in german shepherd dogs with dwarfism. Domest Anim Endocrinol 19:177-90, 2000.
Pubmed reference: 11064220 .
2000 Lantinga-van,Leeuwen,I.S.,Kooistra,H.S.,Mol,J.A.,Renier,C.,Breen,M.,van,Oost,B.A.: :
Cloning, characterization, and physical mapping of the canine Prop-1 gene (PROP1): exclusion as a candidate for combined pituitary hormone deficiency in German shepherd dogs Cytogenetics & Cell Genetics 88:140-144, 2000.
2000 Leeuwen,I.S.L.,Mol,J.A.,Kooistra,H.S.,Rijnberk,A.,Breen,M.,Renier,C.,van,Oost,B.A.: :
Cloning of the canine gene encoding transcription factor Pit-1 and its exclusion as candidate gene in a canine model of pituitary dwarfism Mammalian Genome 11:31-36, 2000.
Pubmed reference: 10602989 .
1999 Hamann,F.,Kooistra,H.S.,Mol,J.A.,Gottschalk,S.,Bartels,T.,Rijnberk,A.: :
Pituitary function and morphology in two German shepherd dogs with congenital dwarfism Veterinary Record 144:644-646, 1999.
Pubmed reference: 10399248 .
1998 Kooistra,H.S.,Voorhout,G.,Selman,P.J.,Rijnberk,A.: :
Progestin-induced growth hormone (gh) production in the treatment of dogs with congenital gh deficiency Domestic Animal Endocrinology 15:93-102, 1998.
Pubmed reference: 9532423 .
1997 Ramsey,I.K.,Evans,H.,Herrtage,M.E.: :
Thyroid-stimulating hormone and total thyroxine concentrations in euthyroid, sick euthyroid and hypothyroid dogs Journal of Small Animal Practice 38:540-545, 1997.
Pubmed reference: 9444634 .
1995 Nichols, R., Thompson, L. :
Pituitary-hypothalmic disease W.B. Saunders Co., Toronto. S.J. Ettinger and E.C. Feldman (eds.) Textbook of Veterinary Internal Medicine. p. 1422-1436
1993 Rijnberk,A.,Vanherpen,H.,Mol,J.A.,Rutteman,G.R.: :
Disturbed Release of Growth Hormone in Mature Dogs - A Comparison with Congenital Growth Hormone Deficiency Veterinary Record 133:542-545, 1993.
Pubmed reference: 8116157 .
1991 Greco,D.S.,Feldman,E.C.,Peterson,M.E.,Turner,J.L.,Hodges,C.M.,Shipman,L.W.: :
Congenital Hypothyroid Dwarfism in a Family of Giant Schnauzers Journal of Veterinary Internal Medicine 5:57-65, 1991.
Pubmed reference: 2061865 .
1990 Randolph,J.F.,Miller,C.L.,Cummings,J.F.,Lothrop,C.D.: :
Delayed Growth in 2 German Shepherd Dog Littermates with Normal Serum Concentrations of Growth Hormone, Thyroxine, and Cortisol Journal of the American Veterinary Medical Association 196:77-83, 1990.
Pubmed reference: 2295557 .
1985 Greco,D.S.,Peterson,M.E.,Cho,D.Y.,Markovits,J.E.: :
Juvenile-onset hypothyroidism in a dog. J Am Vet Med Assoc 187:948-50, 1985.
Pubmed reference: 4055523 .
1981 Eigenmann,J.E.: :
Diagnosis and treatment of dwarfism in a German Shepherd dog Journal of the American Animal Hospital Association 17:798-804, 1981.
1980 Müller-Peddinghaus,R.,ElEtreby,M.F.,Siefert,J.,Ranke,M.: :
[Pituitary dwarfism in a German shepherd dog (author's transl)]. Vet Pathol 17:406-21, 1980.
Pubmed reference: 6247812 .
1979 Muller,GH.: :
Pituitary dwarfism. Vet Clin North Am Small Anim Pract 9:41-8, 1979.
Pubmed reference: 462708 .
1978 Andresen,E.: :
Origin and distribution of pituitary dwarfism in the dog and a basis for detecting carriers of various genetic diseases using biochemical methods Kleintierpraxis 23:65-74, 1978.
1978 Nicholas,F.W.: :
Pituitary dwarfism in German Shepherd dogs: a genetic analysis of some Australian data Journal of Small Animal Practice 19:167-174, 1978.
Pubmed reference: 642476 .
1978 Cassel,S.E.: :
Ovarian imbalance in a German Shepherd dwarf. Vet Med Small Anim Clin 73:162-3, 1978.
Pubmed reference: 245902 .
1978 Allan,G.S.,Huxtable,C.R.R.,Howlett,C.R.,Baxter,R.C.,Duff,B.,Farrow,B.R.H.: :
Pituitary dwarfism in German Shepherd dogs Journal of Small Animal Practice 19:711-727, 1978.
Pubmed reference: 723236 .
1977 Andresen,E.,Willeberg,P.: :
Pituitary dwarfism in Carelian bear-dogs: evidence of simple, autosomal recessive inheritance. Hereditas 84:232-4, 1977.
Pubmed reference: 838602 .
1976 Andresen,E.,Willeberg,P.: :
Pituitary dwarfism in German Shepherd dogs : additional evidence of simple, autosomal recessive inheritance Nordisk Veterinaermedicin 28:481-486, 1976.
Pubmed reference: 980693 .
1976 Andresen,E.,Willeberg,P.,Riis,P.M.: :
Somatomedin levels in dogs with pituitary dwarfism Hereditas 84:239 only, 1976.
1975 Andresen,E.,Willeberg,P.,Rasmussen,P.G.: :
Hereditary pituitary dwarfism in German Shepherd dogs Hunden. Medlemsblad Dansk Kennel Klub 85:112-114, 1975.
1975 Willeberg,P.,Kastrup,K.W.,Anderson,E.: :
Pituitary dwarfism in German Shepherd dogs: studies on somatomedin activity Nordisk Veterinaermedicin 27:448-454, 1975.
Pubmed reference: 1178442 .
1974 Andresen,E.,Willeberg,P.,Rusmussen,P.G.: :
Pituitary dwarfism in German Shepherd dogs : genetic investigations Nordisk Veterinaermedicin 26:692-701, 1974.
Pubmed reference: 4449724 .