The detail information of XX testicular DSD (Disorder of Sexual Development)
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Year key mutation first reported: -

Species-specific name: XX sex reversal, XX DSD testicular/ovotesticular

Species-specific symbol: XXSR

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB2 Afghan Hound 63.5-68.6 cm 22.7-27.2 kg Afghanistan
CB272 American Cocker Spaniel 38 cm (male), 36cm (female) United States
CB265 American Pit Bull Terrier 45.7-53.3 cm (male), 43.2 to 50.8 cm (female) 15.9-27.2 kg (male), 13.6-22.7 kg (female) United States
CB11 American Staffordshire Terrier 18-19 inches (male), 17-18 inches (female) 55-70 pounds (male), 40-55 pounds (female) United States
CB16 Australian Shepherd 50.8-58.4 cm (male), 45.7-53.3 cm (female) 24.9-31.8 kg (male), 15.9-24.9 kg (female) United States
CB22 Basset Hound up to 38.1 cm 18.1-29.5 kg France
CB24 English Beagle 33 cm & under 33-38.1 cm under 9.1 kg (5.9 inches & under), 9.1-13.6 kg (5.9-6.8 inches) United Kingdom (England)
CB34 Bernese Mountain Dog 63.5-71.1 cm (male), 58.4-66 cm (female) 39-49.9 kg (male), 35.8-49.9 kg (female) Switzerland
CB43 Border Collie 48.3-55.9 cm (male), 45.7-53.3 cm (female) 13.6-20.4 kg (male), 12.2-19.1 kg (female) United Kingdom (Scotland, England, Wales)
CB56 Brussels Griffon 17.8-25.4 cm 3.6-4.5 kg Belgium
CB57 English Bull Terrier 53.3-55.9 cm 22.7-31.8 kg United Kingdom (England)
CB58 English Bulldog 35.6-38.1 cm 22.7 kg (male), 18.1 kg (female) United Kingdom (England)
CB88 Doberman Pinscher 66-71.1 cm (male), 61-66 cm (female) 34-45.4 kg (male), 27.2-40.8 kg (female) Germany
CB94 English Cocker Spaniel 40.6-43.2 cm (male), 38.1-40.6 cm (female) 12.7-15.4 kg (male), 11.8-14.5 kg (female) United Kingdom (England)
CB106 French Bulldog 27.9-33 cm under 12.7 kg United Kingdom (England), France
CB109 German Pinscher 43.2-50.8 cm 11.3-20.4 kg Germany
CB110 German Shepherd Dog 61-66 cm (male), 55.9-61 cm (female) 29.5-40.8 kg (male), 22.7-31.8 kg (female) Germany
CB111 German Short-Haired Pointer 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
CB116 Golden Retriever 58.4-61 cm (male), 54.6-57.2 cm (female) 29.5-34 kg (male), 24.9-29.5 kg (female) United Kingdom (Scotland)
CB361 Kooikerhondje(Little Cager Dog) 35.6-40.6 cm Netherlands
CB142 Irish Blue Terrier 45.7-49.5 cm (male), 44.5-48.3 cm (female) 15-18.1 kg (male), females weigh slightly less than males Ireland
CB170 Norwegian Elkhound 52.1 cm (male), 49.5 cm (female) 24.9 kg (male), 21.8 kg (female) Norway
CB196 Pug 25.4-33 cm 6.4-8.2 kg China
CB228 Soft-Coated Wheaten Terrier 45.7-48.3 cm (male), 43.2-45.7 cm (female) 15.9-18.1 kg (male), 13.6-15.9 kg (female) Ireland
CB244 Tibetan Terrier 35.6-43.2 cm (male), slightly smaller (female) 8.2-13.6 kg (male), slightly smaller (female) Tibet
CB251 Hungarian Vizsla 55.9-61 cm (male), 53.3-58.4 cm (female) 24.9-27.2 kg (male), 20-24.9 kg (female) Hungary
CB252 Weimaraner 63.5-68.6 cm (male), 58.4-63.5 cm (female) 31.8-40.8 kg (male), 24.9-34 kg (female) Germany
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 Szczerbal,I.,Nowacka-Woszuk,J.,Nizanski,W.,Dzimira,S.,Ligocka,Z.,Jastrzebska,A.,Kabala,B.,Biernacik,M.,Przadka,P.,Switonski,M.: :
Disorders of Sex Development Are an Emerging Problem in French Bulldogs: A Description of Six New Cases and a Review of the Literature. Sex Dev :, 2020.
Pubmed reference: 32203972 . DOI: 10.1159/000506582 .
2019 Nowacka-Woszuk,J.,Szczerbal,I.,Stachowiak,M.,Szydlowski,M.,Nizanski,W.,Dzimira,S.,Maslak,A.,Payan-Carreira,R.,Wydooghe,E.,Nowak,T.,Switonski,M.: :
Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study. PLoS One 14:e0218565, 2019.
Pubmed reference: 31220175 . DOI: 10.1371/journal.pone.0218565 .
2018 Yoon,H.,Han,S.H.,Kim,J.,Kim,K.,Eom,K.: :
Urogenital anomalies and urinary incontinence in an English Cocker Spaniel dog with XX sex reversal. J Vet Intern Med :, 2018.
Pubmed reference: 29572943 . DOI: 10.1111/jvim.15119 .
2017 Meyers-Wallen,V.N.,Boyko,A.R.,Danko,C.G.,Grenier,J.K.,Mezey,J.G.,Hayward,J.J.,Shannon,L.M.,Gao,C.,Shafquat,A.,Rice,E.J.,Pujar,S.,Eggers,S.,Ohnesorg,T.,Sinclair,A.H.: :
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). PLoS One 12:e0186331, 2017.
Pubmed reference: 29053721 . DOI: 10.1371/journal.pone.0186331 .
2016 Szczerbal,I.,Nowacka-Woszuk,J.,Dzimira,S.,Atamaniuk,W.,Nizanski,W.,Switonski,M.: :
A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; SRY-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the SOX9 Gene. Sex Dev 10:74-8, 2016.
Pubmed reference: 27089505 . DOI: 10.1159/000445464 .
2015 Marcinkowska-Swojak,M.,Szczerbal,I.,Pausch,H.,Nowacka-Woszuk,J.,Flisikowski,K.,Dzimira,S.,Nizanski,W.,Payan-Carreira,R.,Fries,R.,Kozlowski,P.,Switonski,M.: :
Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative). Sci Rep 5:14696, 2015.
Pubmed reference: 26423656 . DOI: 10.1038/srep14696 .
2014 Rossi,E.,Radi,O.,DeLorenzi,L.,Vetro,A.,Groppetti,D.,Bigliardi,E.,Luvoni,G.C.,Rota,A.,Camerino,G.,Zuffardi,O.,Parma,P.: :
Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs. PLoS One 9:e101244, 2014.
Pubmed reference: 25010117 . DOI: 10.1371/journal.pone.0101244 .
2014 Salamon,S.,Nowacka-Woszuk,J.,Szczerbal,I.,Dzimira,S.,Nizanski,W.,Ochota,M.,Switonski,M.: :
A lack of association between polymorphisms of three positional candidate genes (CLASP2 , UBP1, and FBXL2) and canine disorder of sexual development (78,XX; SRY -negative). Sex Dev 8:160-5, 2014.
Pubmed reference: 24994500 . DOI: 10.1159/000363531 .
2012 Groppetti,D.,Genualdo,V.,Bosi,G.,Pecile,A.,Iannuzzi,A.,Perucatti,A.,DeLorenzi,L.,Parma,P.,Arrighi,S.: :
XX SRY-negative true hermaphrodism in two dogs: clinical, morphological, genetic and cytogenetic studies. Sex Dev 6:135-42, 2012.
Pubmed reference: 21921586 . DOI: 10.1159/000331274 .
2012 Max,A.,Grabiec,A.,Sacharczuk,M.,Sysa,P.,Jurka,P.,Krzyżewska,A.: :
78,XX testicular DSD syndrome in a mongrel dog. Reprod Domest Anim 47:e7-e11, 2012.
Pubmed reference: 21762213 . DOI: 10.1111/j.1439-0531.2011.01834.x .
2012 Meyers-Wallen,V.N.: :
Gonadal and sex differentiation abnormalities of dogs and cats. Sex Dev 6:46-60, 2012.
Pubmed reference: 22005097 . DOI: 10.1159/000332740 .
2012 Switonski,M.,Payan-Carreira,R.,Bartz,M.,Nowacka-Woszuk,J.,Szczerbal,I.,Colaço,B.,Pires,M.A.,Ochota,M.,Nizanski,W.: :
Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev 6:128-34, 2012.
Pubmed reference: 21893969 . DOI: 10.1159/000330921 .
2011 Campos,M.,Moreno-Manzano,V.,García-Roselló,M.,García-Roselló,E.: :
Sry-negative XX sex reversal in a French Bulldog. Reprod Domest Anim 46:185-8, 2011.
Pubmed reference: 20412513 . DOI: 10.1111/j.1439-0531.2010.01612.x .
2011 Switonski,M.,Szczerbal,I.,Nizanski,W.,Kociucka,B.,Bartz,M.,Dzimira,S.,Mikolajewska,N.: :
Robertsonian translocation in a sex reversal dog (XX, SRY negative) may indicate that the causative mutation for this intersexuality syndrome resides on canine chromosome 23 (CFA23). Sex Dev 5:141-6, 2011.
Pubmed reference: 21430365 . DOI: 10.1159/000324689 .
2010 Rota,A.,Cucuzza,A.S.,Iussich,S.,Delorenzi,L.,Parma,P.: :
The case of an Sry-negative XX male Pug with an inguinal gonad. Reprod Domest Anim 45:743-5, 2010.
Pubmed reference: 19210664 . DOI: 10.1111/j.1439-0531.2008.01335.x .
2009 Buijtels,J.J.,deGier,J.,vanHaeften,T.,Kooistra,H.S.,Spee,B.,VeldhuisKroeze,E.J.,Zijlstra,C.,Okkens,A.C.: :
Minimal external masculinization in a SRY-negative XX male Podenco dog. Reprod Domest Anim 44:751-6, 2009.
Pubmed reference: 18992091 . DOI: 10.1111/j.1439-0531.2008.01065.x .
2008 DeLorenzi,L.,Groppetti,D.,Arrighi,S.,Pujar,S.,Nicoloso,L.,Molteni,L.,Pecile,A.,Cremonesi,F.,Parma,P.,Meyers-Wallen,V.: :
Mutations in the RSPO1 coding region are not the main cause of canine SRY-negative XX sex reversal in several breeds. Sex Dev 2:84-95, 2008.
Pubmed reference: 18577875 . DOI: 10.1159/000129693 .
2007 Pujar,S.,Kothapalli,K.S.,Göring,H.H.,Meyers-Wallen,V.N.: :
Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating Sry-negative XX sex reversal. J Hered 98:438-44, 2007.
Pubmed reference: 17591608 . DOI: 10.1093/jhered/esm028 .
2006 Kothapalli,K.S.,Kirkness,E.F.,Vanwormer,R.,Meyers-Wallen,V.N.: :
Exclusion of DMRT1 as a candidate gene for canine SRY-negative XX sex reversal. Vet J 171:559-61, 2006.
Pubmed reference: 16624726 . DOI: 10.1016/j.tvjl.2004.12.013 .
2005 Kothapalli,K.,Kirkness,E.,Pujar,S.,VanWormer,R.,Meyers-Wallen,V.N.: :
Exclusion of candidate genes for canine SRY-negative XX sex reversal. J Hered 96:759-63, 2005.
Pubmed reference: 16267164 . DOI: 10.1093/jhered/esi129 .
2005 Kuiper,H.,Bunck,C.,Gunzel-Apel,AR.,Drogemuller,C.,Hewicker-Trautwein,M.,Distl,O.: :
SRY-negative XX sex reversal in a Jack Russell Terrier: a case report. Vet J 169:116-7, 2005.
Pubmed reference: 15683773 . DOI: 10.1016/j.tvjl.2003.11.004 .
2005 Nowacka,J.,Nizanski,W.,Klimowicz,M.,Dzimira,S.,Switonski,M.: :
Lack of the SOX9 gene polymorphism in sex reversal dogs (78,XX; SRY negative). J Hered 96:797-802, 2005.
Pubmed reference: 16150950 . DOI: 10.1093/jhered/esi106 .
2005 Pujar,S.,Kothapalli,K.S.,Kirkness,E.,VanWormer,R.H.,Meyers-Wallen,V.N.: :
Exclusion of Lhx9 as a candidate gene for Sry-negative XX sex reversal in the American cocker spaniel model. J Hered 96:452-4, 2005.
Pubmed reference: 15814894 . DOI: 10.1093/jhered/esi058 .
2004 Kothapalli,KS.,Kirkness,EF.,Pujar,S.,Meyers-Wallen,VN.: :
Exclusion of WT1 as a candidate gene for canine SRY-negative XX sex reversal. Anim Genet 35:466-7, 2004.
Pubmed reference: 15566472 . DOI: 10.1111/j.1365-2052.2004.01189.x .
2003 Kothapalli,KS.,Kirkness,E.,Natale,LJ.,Meyers-Wallen,VN.: :
Exclusion of PISRT1 as a candidate locus for canine Sry-negative XX sex reversal. Anim Genet 34:467-9, 2003.
Pubmed reference: 14687082 .
1999 Hubler,M.,Hauser,B.,Meyers-Wallen,V.N.,Arnold,S.: :
Sry-negative XX true hermaphrodite in a Basset hound. Theriogenology 51:1391-403, 1999.
Pubmed reference: 10729102 . DOI: 10.1016/S0093-691X(99)00082-5 .
1999 Melniczek,J.R.,Dambach,D.,Prociuk,U.,Jezyk,P.F.,Henthorn,P.S.,Patterson,D.E.,Giger,U.: :
SRY-negative XX sex reversal in a family of Norwegian Elkhounds Journal of Veterinary Internal Medicine 13:564-569, 1999.
Pubmed reference: 10587257 .
1999 Meyers-Wallen,V.N.: :
Inherited disorders in sexual development Journal of Heredity 90:93-95, 1999.
Pubmed reference: 9987911 .
1999 Meyers-Wallen,V.N.,Schlafer,D.,Barr,I.,Lovell-Badge,R.,Keyzner,A.: :
Sry-negative XX sex reversal in purebred dogs Molecular Reproduction & Development 53:266-273, 1999.
1997 Williams,J.,Partington,B.P.,Smith,B.,Hedlund,C.S.,Law,J.M.: :
Pyovagina and stump pyometra in a neutered XX sex-reversed Beagle - a case report Journal of the American Animal Hospital Association 33:83-90, 1997.
Pubmed reference: 8974032 .
1995 Meyers-Wallen,V.N.,Bowman,L.,Acland,G.M.,Palmer,V.L.,Schlafer,D.,Fajt,V.: :
SRY-negative XX sex reversal in the German Shorthaired Pointer dog Journal of Heredity 86:369-374, 1995.
Pubmed reference: 7560873 .
1995 Meyers-Wallen,V.N.,Palmer,V.L.,Acland,G.M.,Hershfield,B.: :
SRY-negative XX sex reversal in the American Cocker Spaniel dog Molecular Reproduction and Development 41:300-305, 1995.
Pubmed reference: 8588928 . DOI: 10.1002/mrd.1080410304 .
1994 Meyers-Wallen,V.N.,Maclaughlin,D.,Palmer,V.,Donahoe,P.K.: :
Mullerian-inhibiting substance secretion is delayed in XX sex- reversed dog embryos Molecular Reproduction and Development 39:1-7, 1994.
Pubmed reference: 7999353 . DOI: 10.1002/mrd.1080390102 .
1993 Meyers-Wallen,V.N.: :
Genetics of Sexual Differentiation and Anomalies in Dogs and Cats Journal of Reproduction and Fertility :441-452, 1993.
Pubmed reference: 8229960 .
1988 Meyers-Wallen,V.N.,Patterson,D.F.: :
XX sex reversal in the American cocker spaniel dog: phenotypic expression and inheritance Human Genetics 80:23-30, 1988.
Pubmed reference: 3417302 .
1987 Meyers-Wallen,V.N.,Donahoe,P.K.,Manganaro,T.,Patterson,D.F.: :
Mullerian inhibiting substance in sex-reversed dogs Biology of Reproduction 37:1015-1022, 1987.
Pubmed reference: 3689844 .
1984 Selden,J.R.,Moorhead,P.S.,Koo,G.C.,Wachtel,S.S.,Haskins,M.E.,Patterson,D.F.: :
Inherited XX sex reversal in the cocker spaniel dog. Hum Genet 67:62-9, 1984.
Pubmed reference: 6745927 .
1978 Selden,J.R.,Wachtel,S.S.,Koo,G.C.,Haskins,M.E.,Patterson,D.F.: :
Genetic basis of XX male syndrome and XX true hermaphroditism: evidence in the dog. Science 201:644-6, 1978.
Pubmed reference: 675252 .