Tibetan Terrier Pituitary Dwarfism (LHX3): What the 2021 MSU Study Found

SamOur Tibetan Terrier puppy is half her littermates’ size and still has baby fluff. Should we worry?

Elena MarshA gap that size deserves a vet visit soon. Michigan State pathologists showed in 2021 that one inherited cause in Tibetan Terriers can be checked with a DNA test.

SamWe thought dwarfism just meant short legs, like a Dachshund. Is this the same thing?

Elena MarshNo. Short legs come from a different condition. Pituitary dwarfism keeps the body in proportion, and a 2011 Utrecht study traced the shepherd form to a single pituitary gene.

SamThe breeder health-tests every dog. How could this turn up in a careful kennel?

Elena MarshIt is recessive, so carriers look healthy. In the 2021 report every parent of the three affected puppies was a carrier, which is exactly how a careful kennel can be caught out.

Bottom line: Pituitary dwarfism in Tibetan Terriers is an autosomal recessive disorder caused by the same LHX3 deletion first found in German Shepherds: one 7-base-pair repeat is missing from intron 5, and the shortened intron is not spliced properly, so the pituitary gland never develops fully. In a 2021 Michigan State University report, three dwarf puppies from three related litters carried two copies, and every parent carried one. The puppies were normal-sized at birth but weighed about 1 kg at two months, against about 2.65 to 2.9 kg for their littermates. A DNA test reads this variant only; a clear result does not rule out every cause of poor growth, and the “pituitary dwarfism” line on Embark and Wisdom Panel reports covers the Karelian Bear Dog variant in POU1F1, not LHX3. In the UK the Royal Kennel Club lists the test (DP-LHX3) as Good Practice before breeding; in the US the Tibetan Terrier Club of America lists it as optional for CHIC. Diagnosis belongs to a veterinarian, using hormone blood tests such as IGF-1. Treatment has only been studied in German Shepherds, and the outlook there remains guarded.

Three related litters and the pathologists who recognised a shepherd mutation

In 2021 the Journal of Veterinary Diagnostic Investigation published a brief report by Thaiwong, Corner, La Forge and Kiupel at the Michigan State University Veterinary Diagnostic Laboratory, written together with the Tibetan Terrier Health and Welfare Foundation. That Foundation, per the breed club’s health committee page, has funded university research on the breed since 2007.

The team examined three dwarf Tibetan Terriers born into three related litters. All three were homozygous for a deletion already known from German Shepherd dwarfs: two copies of a 7-base-pair loss in intron 5 of the LHX3 gene. Every parent of the three puppies carried exactly one copy, which is the textbook pattern of autosomal recessive inheritance.

The growth record is what makes the paper useful to owners. At birth the dwarfs were the same size as their littermates. Within a few weeks their weight and height simply stopped climbing. At two months the affected puppies weighed 1,037 to 1,111 g, while the littermate averages were 2,650 to 2,863 g. At nine weeks the recorded height was 16.5 cm, while littermates measured 22 to 26 cm. These are three dogs, so the figures describe this family, not a growth chart to measure other puppies against.

The coat told the same story. The soft, woolly puppy coat never changed into the adult double coat, and the dogs lost hair heavily everywhere except the head and legs. Body proportions stayed normal: these were small, evenly built dogs, not short-legged ones.

The authors did not measure hormone levels, so the hormone profile of Tibetan Terrier dwarfs is still undescribed; what is known comes from shepherd breeds.

SamIf the puppies looked normal at birth, when would a breeder first notice something?

Elena MarshIn the Michigan State report the dwarfs matched their littermates at birth, then fell behind within weeks; by two months they weighed about 1 kg against roughly 2.7 kg.

An intron too short to cut out: how LHX3 fails

LHX3 encodes a transcription factor that the developing pituitary needs in order to build its hormone-producing cells. The defect was pinned down in 2011 by Voorbij and colleagues at Utrecht University, who published it in PLoS ONE. In a normal dog, intron 5 of LHX3 is 75 bases long and contains six imperfect repeats of the 7-base sequence GCGCCCC. In dwarfs, one of those six repeats is missing, and the intron shrinks to 68 bases. Its formal name is c.622-37-31del.

The splice sites at each end of the intron are untouched, and the researchers, who had first suspected an expanded repeat, found the dwarfs’ fragment was shorter instead. Their explanation is mechanical: the intron becomes too small for the cell’s splicing machinery to remove efficiently. In cell experiments and in pituitary tissue from two dwarfs, they saw exon 5 skipped or intron 5 left in place. Either error produces an LHX3 protein that lacks its homeodomain, the part that binds DNA.

The failure is not total. Some correctly spliced messenger RNA still appears, and in the pituitary of one homozygous dwarf, LHX3 activity was about one-hundredth of normal (a single sample). The Utrecht group suggested that differences in this leftover activity might explain why affected dogs vary in severity, though they framed it as a hypothesis.

What the dog ends up missing was measured earlier. In a 2000 study of eight dwarf German Shepherds, Kooistra and colleagues found growth hormone, thyroid-stimulating hormone (TSH) and prolactin all deficient, with weak gonadotropin release, while ACTH, the hormone that drives the adrenal glands, behaved like that of control dogs. The medical term is combined pituitary hormone deficiency.

In people, two faulty copies of LHX3 cause a recessive syndrome, first described in 2000, in which most front-pituitary hormones fail and the neck may be stiff. A 2007 screen of 366 patients found LHX3 mutations in seven, and not all had the neck problem.

SamIf only seven letters of DNA are missing, why does it knock out so many hormones at once?

Elena MarshLHX3 works early, deciding what pituitary cells become. Kooistra’s 2000 study of eight dwarf shepherds found growth hormone, TSH and prolactin low, with ACTH still normal.

Shared with shepherds and wolfdogs, but not with the Karelian Bear Dog

The search behind the 2011 result took decades. Danish researchers Andresen and Willeberg reported in 1976 that the pattern in German Shepherd families fitted simple autosomal recessive inheritance. From 2000 onward the Utrecht group ruled out one candidate gene after another: POU1F1 (also called Pit-1), PROP1, LHX4 and the leukemia inhibitory factor receptor. Genome-wide mapping finally placed the defect on canine chromosome 9 with a lod score of 9.8, and LHX3 sat inside the interval. Of 23 dwarf German Shepherds, 22 had two copies of the 7-base-pair deletion. The odd one out carried one deletion plus a different change in exon 5, a three-base ACA insertion. A Dutch veterinary journal article in 2010 had already announced that a genetic test was available, before the gene was published.

The deletion then turned up in related breeds. In 2014 the same Utrecht authors found it in four Czechoslovakian Wolfdog dwarfs and two Saarloos Wolfdog dwarfs; both breeds were created by crossing German Shepherds with wolves. In 2025 a team at Ghent University described a dwarf White Swiss Shepherd with the same two copies.

The Tibetan Terrier is the outlier. It is not a shepherd breed, and the Michigan State authors noted that it is an old breed of Asian origin, more than 500 years old and regarded as a basal lineage. They speculated that the variant may therefore predate the split of herding lines. That is a hypothesis in the paper, not a finding, and where the mutation began remains unknown.

Not every pituitary dwarf carries this deletion. In Karelian Bear Dogs, Kyöstilä and colleagues linked the disorder in 2021 to a variant in a different gene, POU1F1 (c.605-3C>A). This matters when ordering a test. LABOKLIN UK sells one test (8142) for pituitary dwarfism and examines LHX3 for the shepherd breeds and the Tibetan Terrier but POU1F1 for the Karelian Bear Dog and Lapponian Herder. Genomia in the Czech Republic and AnimaLabs in Croatia state that their LHX3 test reads both the 7-base-pair deletion and the rarer ACA insertion.

Fluffy, small and in proportion: how vets confirm the diagnosis

The Merck Veterinary Manual notes that dwarf pups cannot be told apart from unaffected littermates until about two months of age. After that, the signs it lists include symmetrical hair loss on both sides of the body, late or missing adult teeth, small testicles, and irregular or absent heat cycles. LABOKLIN UK’s description adds darkening skin and a shrill bark.

Short-legged chondrodysplasia is a separate genetic condition with disproportionate limbs; a pituitary dwarf is small all over. Some puppies are simply slow: in a 1990 report from Cornell University, four of ten German Shepherd littermates were small, but two of them had normal growth hormone, thyroid and adrenal function and reached nearly normal height and weight by one year. A Chihuahua examined at the University of Tokyo had isolated growth hormone deficiency linked to the GH1 gene, and Utrecht and Ghent researchers have described central hypothyroidism in Miniature Schnauzers, three of them with disproportionate dwarfism, without finding the responsible gene.

Vets therefore lean on blood tests. Insulin-like growth factor 1 (IGF-1), which the body makes in response to growth hormone, is very low in pituitary dwarfs. A 1984 study of nine dwarf German Shepherds found an average of 11 ng/ml, against 280 ng/ml in normal adults; that was one laboratory’s method, not a cut-off for your dog. Stimulation tests check whether growth hormone rises after a trigger such as GHRH or clonidine. A 2006 study of a ghrelin-based version found that a few healthy dogs also stayed below the threshold, so a poor response does not prove deficiency by itself. MRI or CT often shows cysts in the pituitary. A 1980 pathology paper blamed such cysts for the disease, but later work concluded they are more likely a consequence of the genetic defect. A DNA test for LHX3 can then confirm the cause.

In the US, Texas A&M’s laboratory (TVMDL) lists a canine IGF-1 test at $79.25, referred on to the Michigan State laboratory; Cornell’s endocrinology menu did not include IGF-1 when checked on October 11, 2026. A typical route runs from the family vet to a board-certified small animal internist, findable through the ACVIM’s directory. In the UK, NationWide Laboratories lists a weekly IGF-1 run, and the RCVS register can locate a recognised specialist in internal medicine.

SamOur vet wants blood tests first. Wouldn’t a DNA swab alone settle it faster?

Elena MarshDNA shows only whether this variant is present. A 1990 Cornell report described two small shepherd littermates whose hormones were normal and who nearly caught up by age one.

What shepherd dwarfs teach about treatment and outlook

No treatment study has included a Tibetan Terrier; everything below comes from German Shepherds.

The largest dataset is an owner survey run by the small animal clinic at LMU Munich in 2018 and published by Kitzmann and colleagues in 2021. It covered 47 dwarf German Shepherds and 94 normal ones, mostly from Europe and North America. Twelve dwarfs were untreated, 22 received thyroid hormone alone, and 13 received thyroid hormone plus a progestin or growth hormone. Treatment of any kind was associated with longer survival. The combined group grew taller and heavier, yet only one of its 13 dogs reached normal size. Quality of life was rated best in the thyroid-only group. By the time of the survey 14 of the 47 dwarfs (29.8%) had died or been euthanised, and four of the five untreated dogs that died were under one year old. The authors note the limits: owner reports, small groups and dogs without genetic confirmation.

Progestins are used because, in dogs, they switch on growth hormone production in the mammary gland. Kooistra and colleagues described this in two dwarf shepherds in 1998, and a 2002 UK report described three dogs treated with proligestone. Both reports recorded side effects, including recurrent skin infection, uterine disease and acromegaly-like changes. Dosing decisions belong to your vet and are not discussed here.

The 2014 Utrecht paper notes that many dwarfs do not live beyond four to five years and that, although proper treatment improves matters considerably, the prognosis remains guarded. Complications seen in shepherd-type dwarfs include incomplete bone formation in the first neck vertebra with an unstable joint below it, described in three Czechoslovakian Wolfdogs and one German Shepherd in 2015, one of which died suddenly at 18 months; chronic kidney disease; and, in one German Shepherd, central diabetes insipidus. The 2025 White Swiss Shepherd developed ACTH deficiency two years after diagnosis, and its authors recommend screening dwarfs for it. Whether Tibetan Terrier dwarfs develop the neck or kidney problems has not been studied.

SamIf our puppy turns out to be affected, can treatment make her grow to full size?

Elena MarshFull size is rare. In the 2021 Munich owner survey, one of 13 dogs on combined treatment reached normal size, though treated dogs outlived untreated ones.

Carriers in a shrinking breed: the case for carrier-to-clear matings

Because the disorder is recessive, a dog with one copy of the deletion is a carrier and does not develop the disease. If two carriers are mated, each puppy has a one-in-four chance of inheriting two copies. If a carrier is mated to a clear dog, no puppy can inherit two copies of this variant, though on average about half will be carriers.

The Michigan State paper contains a figure that is easy to misuse: 13 of the 31 Tibetan Terriers tested (42%) were carriers. The authors chose most of those dogs because they were related to the dwarf puppies, and they state plainly that the true frequency of the variant in the breed cannot be determined from their sample. No breed-wide carrier rate for Tibetan Terriers has been published. Figures from wolfdogs (31% of 239 Saarloos and 21% of 200 Czechoslovakian breeding dogs, in the 2014 Utrecht study) belong to those breeds and do not transfer.

The Utrecht authors argued that, in the wolfdog breeds, testing every breeding dog could eliminate the disorder entirely. The Michigan State team took a gentler line for the Tibetan Terrier. Pointing to its limited gene pool, they recommended mating carriers to clear dogs and testing the offspring, rather than removing carriers from breeding.

Registration numbers make that argument concrete. The UK Kennel Club’s ten-year statistics record 1,217 Tibetan Terrier registrations in 2015 and 702 in 2024, a fall of about 42%; the first three quarters of 2025 added 181, 144 and 143. In the US the breed ranked 118th in the AKC’s 2025 popularity list.

A result of “clear” has a defined meaning: the dog does not carry the variant or variants the laboratory examined. It says nothing about the POU1F1 or GH1 forms seen in other breeds, or about causes no one has yet identified. If a lab reads only the 7-base-pair deletion, it will also miss the exon 5 insertion found once in a German Shepherd, which is a reason to check what a given test covers.

SamWouldn’t it be safer for breeders to stop using every carrier?

Elena MarshThe Michigan State authors, citing the breed’s limited gene pool, suggested mating carriers only to clear dogs and testing the puppies rather than dropping carriers.

The UK position: DP-LHX3 as a Good Practice test

The Royal Kennel Club published its DP-LHX3 test page on May 7, 2021. It explains that affected puppies “may not be noticeably different at birth, but will not grow correctly and can die young.” On July 30, 2021, Vet Times reported the launch of the official scheme: tested dogs are recorded as clear, carrier or affected on their Kennel Club records, and the results appear in the Breed Records supplement and the Health Test Results Finder.

The breed’s status has since been raised. The Tibetan Terrier page in the Utility Group lists five Health Standard Good Practice items: DNA tests for NCL, PLL, PRA (rcd4) and pituitary dwarfism, plus hip scoring under the BVA/KC scheme. The club defines Good Practice as tests it “strongly recommend[s] that breeders, at a minimum, conduct … before breeding.” The page itself misspells the code as “DP-LXH3”; the correct form is DP-LHX3. Best Practice adds a DNA test for PRA3 and eye testing. The Health Standard launched on January 15, 2025, after the Assured Breeder Scheme closed at the end of 2024.

On October 11, 2026, LABOKLIN UK charged £48.00 including VAT for test 8142, run at a partner laboratory with a stated turnaround of two to three weeks, and noted that it is part of the official Kennel Club DNA testing scheme for the breed. Its Tibetan Terrier bundle (8679) groups six tests (NCL, PLL, rcd4, PRA3, DM and pituitary dwarfism) for £138.00 including a £15 patent fee.

Insurance wording favours early cover. Agria says inherited conditions count as pre-existing if clinical signs appeared or a diagnosis was made before the policy began. Petplan defines a congenital illness as one present from birth that may not show symptoms straight away, and its Covered for Life policies carry annual vet-fee limits of £4,000, £7,000 or £12,000 that refresh on renewal. ManyPets will not take on chronic conditions needing ongoing treatment under its pre-existing plan, and lifelong hormone therapy would fall into that description.

Law is a further layer for licensed breeders in England, meaning those producing three or more litters in 12 months or advertising a business selling dogs. Schedule 6 of the Animal Welfare (Licensing of Activities Involving Animals) Regulations 2018 forbids keeping a dog for breeding if its “genotype, phenotype or state of health” could be expected to harm its own or its offspring’s welfare. The regulation does not mention pituitary dwarfism, so applying it to a mating of two known carriers is a matter of interpretation.

The US position: optional for CHIC, missing from big panels

The Tibetan Terrier Club of America recommends hips, a CAER eye exam, DNA tests for NCL, PLL, rcd4 and PRA3, BAER hearing tests and patella checks for breeding dogs. Pituitary dwarfism appears separately, under “some additional tests available”. The club’s health news states that from January 1, 2023 its CHIC list would add rcd4 and PRA3 as requirements and add pituitary dwarfism to the optional tests. A CHIC number therefore does not show whether the parents were tested for LHX3; ask for that result by name. The OFA’s fee schedule lists $15 per DNA-based result submitted by an individual owner.

The US test sits with the laboratory behind the discovery. The same TTCA news page says pituitary dwarfism PCR is available through the Michigan State laboratory (order code 80335) for $55, and as part of a six-test Tibetan panel (code 80366) for $230 on 2 ml of EDTA blood. Those prices come from an undated club notice and were not confirmed on the laboratory’s own site. Genomia in the Czech Republic listed $56.00 excluding VAT for a single test with a 12-business-day turnaround, or $128.00 for its Tibetan Terrier combination.

The two big consumer panels behave differently. On October 11, 2026, Embark sold its breed and health kit at $129 (regularly $159) and Wisdom Panel Premium at $127.99 (regularly $159.99), or £144.99 in the UK. Each lists a pituitary dwarfism result, but both pages describe the POU1F1 variant discovered in the Karelian Bear Dog. Neither site showed an LHX3 page, so a “clear” from them says nothing about the Tibetan Terrier deletion.

Puppies usually go home around eight weeks, just as the size gap starts to open. Embrace covers hereditary conditions that are not pre-existing, but treats anything noted by an owner or vet before the waiting period ends as pre-existing. Figo covers non-pre-existing conditions for the life of the pet, and Nationwide states that pre-existing conditions are not covered. State puppy laws differ widely. Florida Statutes § 828.29 gives buyers one year to return, exchange or recover vet costs if a vet certifies a congenital or hereditary disorder, and it applies to pet dealers, including breeders selling directly, but only those selling more than two litters or 20 dogs or cats a year, whichever is greater; buyers can sign a waiver giving up that right, and a written disclosure of a specific disorder at sale removes it. Arizona’s law covers pet stores only, with a 60-day window, and New York’s 180-day rule refers to a “congenital malformation”; whether a hormone deficiency fits that wording is a legal question.

SamOur breeder sent an Embark report showing “clear” for pituitary dwarfism. Is that enough?

Elena MarshThat Embark line covers the Karelian Bear Dog variant in POU1F1, described in 2021. It does not read the LHX3 deletion found in Tibetan Terriers, so ask for that result separately.

Frequently asked questions

Q. How common is pituitary dwarfism in Tibetan Terriers?
Nobody knows. The 2021 Michigan State study found 13 carriers among 31 dogs, but most were relatives of dwarf puppies, and the authors say the breed-wide frequency cannot be worked out from that sample. No population survey has been published.

Q. My Tibetan Terrier is a DP-LHX3 carrier. Will she be small or unwell?
Research describes the disorder as autosomal recessive, and carriers do not develop it. The result matters for breeding: mated to another carrier, each puppy has a one-in-four chance of being affected, while a clear mate avoids affected puppies from this variant.

Q. My puppy tested clear. Does that rule out dwarfism?
No. It rules out the variant the laboratory examined. Other causes of poor growth, including other genes and non-genetic problems, remain possible, so a puppy that stops growing still needs a vet examination.

Q. Do Embark or Wisdom Panel test for the Tibetan Terrier form?
Their pituitary dwarfism results refer to the Karelian Bear Dog variant in POU1F1. Neither lists an LHX3 test, so use a breed-specific laboratory for DP-LHX3.

Q. Can a DNA test diagnose my puppy?
A DNA test gives genetic risk information, not a diagnosis. Your vet diagnoses pituitary dwarfism with blood tests such as IGF-1, stimulation tests, thyroid tests and sometimes imaging, and can use the DNA result to support the conclusion.

Q. Can pituitary dwarfism be treated?
Thyroid hormone, progestins and growth hormone have been studied in German Shepherds, and treated dogs lived longer than untreated ones in a 2021 Munich survey, but few reached normal size and the outlook stays guarded. No study has involved Tibetan Terriers. Treatment choices belong to your vet.

Q. Is the test required before breeding?
In the UK the Royal Kennel Club lists DP-LHX3 among its Good Practice minimum tests. In the US the TTCA treats it as an optional CHIC test, so ask a breeder directly for the result.

References

• Thaiwong T, Corner S, La Forge S, Kiupel M (2021). Dwarfism in Tibetan Terrier dogs with an LHX3 mutation. Journal of Veterinary Diagnostic Investigation 33(4):740-743.
• Voorbij AMWY, van Steenbeek FG, Vos-Loohuis M, Martens EECP, Hanson-Nilsson JM, van Oost BA, Kooistra HS, Leegwater PA (2011). A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs. PLoS ONE 6(11):e27940.
• Voorbij AMWY, Leegwater PA, Kooistra HS (2014). Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. Journal of Veterinary Internal Medicine 28(6):1770-1774.
• Voorbij AMWY, Meij BP, van Bruggen LWL, Grinwis GCM, Stassen QEM, Kooistra HS (2015). Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation. Journal of Veterinary Internal Medicine 29(1):207-213.
• Schils G, Stammeleer L, Daminet S (2025). Pituitary dwarfism and adrenocorticotropic hormone deficiency in a White Swiss Shepherd dog with LHX3 mutation. Journal of Veterinary Internal Medicine 39(5):e70193.
• Kyöstilä K, Niskanen JE, Arumilli M, Donner J, Hytönen MK, Lohi H (2021). Intronic variant in POU1F1 associated with canine pituitary dwarfism. Human Genetics 140(11):1553-1562.
• Kooistra HS, Voorhout G, Mol JA, Rijnberk A (2000). Combined pituitary hormone deficiency in German shepherd dogs with dwarfism. Domestic Animal Endocrinology 19(3):177-190.
• Kitzmann S, Hartmann K, Zablotski Y, Rieger A, Mueller R, Wehner A (2021). Wellbeing, quality of life, presence of concurrent diseases, and survival times in untreated and treated German Shepherd dogs with dwarfism. PLoS ONE 16(8):e0255678.
• Kooistra HS, Voorhout G, Selman PJ, Rijnberk A (1998). Progestin-induced growth hormone (GH) production in the treatment of dogs with congenital GH deficiency. Domestic Animal Endocrinology 15(2):93-102.
• Knottenbelt CM, Herrtage ME (2002). Use of proligestone in the management of three German shepherd dogs with pituitary dwarfism. Journal of Small Animal Practice 43(4):164-170.
• Eigenmann JE, Zanesco S, Arnold U, Froesch ER (1984). Growth hormone and insulin-like growth factor I in German shepherd dwarf dogs. Acta Endocrinologica 105(3):289-293.
• Bhatti SFM, De Vliegher SP, Mol JA, Van Ham LML, Kooistra HS (2006). Ghrelin-stimulation test in the diagnosis of canine pituitary dwarfism. Research in Veterinary Science 81(1):24-30.
• Randolph JF, Miller CL, Cummings JF, Lothrop CD Jr (1990). Delayed growth in two German shepherd dog littermates with normal serum concentrations of growth hormone, thyroxine, and cortisol. Journal of the American Veterinary Medical Association 196(1):77-83.
• Andresen E, Willeberg P (1976). Pituitary dwarfism in German shepherd dogs: additional evidence of simple, autosomal recessive inheritance. Nordisk Veterinaermedicin 28(10):481-486.
• van Oost BA, Versteeg SA, Imholz S, Kooistra HS (2002). Exclusion of the lim homeodomain gene LHX4 as a candidate gene for pituitary dwarfism in German shepherd dogs. Molecular and Cellular Endocrinology 197(1-2):57-62.
• Hanson JM, Mol JA, Leegwater PAJ, Kooistra HS, Meij BP (2006). The leukemia inhibitory factor receptor gene is not involved in the etiology of pituitary dwarfism in German shepherd dogs. Research in Veterinary Science 81(3):316-320.
• Müller-Peddinghaus R, El Etreby MF, Siefert J, Ranke M (1980). Hypophysärer Zwergwuchs beim Deutschen Schäferhund [Pituitary dwarfism in a German shepherd dog]. Veterinary Pathology 17(4):406-421.
• Ramsey IK, Dennis R, Herrtage ME (1999). Concurrent central diabetes insipidus and panhypopituitarism in a German shepherd dog. Journal of Small Animal Practice 40(6):271-274.
• Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, von Moers A, Goossens M, Grüters A, Amselem S (2000). Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nature Genetics 25(2):182-186.
• Pfaeffle RW, Savage JJ, Hunter CS, Palme C, Ahlmann M, Kumar P, Bellone J, Schoenau E, Korsch E, Brämswig JH, Stobbe HM, Blum WF, Rhodes SJ (2007). Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. Journal of Clinical Endocrinology and Metabolism 92(5):1909-1919.
• Voorbij AMWY, Leegwater PAJ, Kooistra HS (2010). Hypopituitarism associated dwarfism in German Shepherds, saarloos wolf dogs and Czechoslovakian wolf dogs. Access to genetic testing [in Dutch]. Tijdschrift voor Diergeneeskunde 135(24):950-954.
• Iio A, Maeda S, Yonezawa T, Momoi Y, Motegi T (2020). Isolated growth hormone deficiency in a Chihuahua with a GH1 mutation. Journal of Veterinary Diagnostic Investigation 32(5):733-736.
• Voorbij AMWY, Leegwater PAJ, Buijtels JJCWM, Daminet S, Kooistra HS (2016). Central hypothyroidism in Miniature Schnauzers. Journal of Veterinary Internal Medicine 30(1):85-91.
• Online Mendelian Inheritance in Animals (OMIA). OMIA:002314-9615: Pituitary hormone deficiency (dwarfism, pituitary), LHX3-related in Canis lupus familiaris. University of Sydney. Accessed 2026-10-11.
• LABOKLIN. Pituitary dwarfism (Service ID 8142). LABOKLIN GmbH & Co. KG, Bad Kissingen. Accessed 2026-10-11.
• Genomia s.r.o. Testing of dogs: Dwarfism (LHX3). Pilsen, Czech Republic. Accessed 2026-10-11.
• Vet Times (2021-07-30). The Kennel Club launches scheme for pituitary dwarfism in Tibetan terriers.
• Tibetan Terrier Club of America. Health news (CHIC requirements from January 1, 2023; MSU VDL pituitary dwarfism PCR). Accessed 2026-10-11.

About the author

Elena Marsh

Editor & writer (not a veterinarian)

A writer with a molecular-biology background and a lifelong dog and cat owner. Not a veterinarian — she translates peer-reviewed genetics research and primary data into plain language, always as information rather than diagnosis.