The detail information of Disorders of sexual development - sexual reversal
Basic Information
Disease Ontology ID: DDTO:0000757
Disease Description: At fertilization, the sex chromosomes are established as XX (the animal will be female) or XY (male). During development of the embryo, ovaries develop if the chromosomes are XX, and testicles if XY. An abnormality can occur in chromosome differentiation (to produce XXY, XXX, XO). This is rare in dogs and is not thought to be inherited.
Inherit Mode: XX sex reversal is an autosomal recessive trait in the breeds listed below. It has been reported sporadically in several other breeds where the inheritance is not understood.
Disease Symptom: Affected animals are infertile (so that your apparently female dog will not come into heat), and may have chronic irritation in the genital area, which may look abnormal to you.
Disease Cause: -
Disease Diagnose: Your veterinarian will typically suspect one of these conditions when s/he notices an abnormality such as clitoral enlargement or an abnormal penis during physical examinataion of your dog, or if a breeding dog is being examined for infertility.To diagnose the specific condition requires your veterinarian to evaluate both internal (generally at the time of spay) and external sex organs, and send away a blood or other cell sample from your dog for karyotyping, which identifies the chromosomes.
Treat Method: Affected animals should be neutered.
Breeder Advice: Affected animals, their parents (carriers) and siblings (potential carriers) should not be used for breeding.
Disease Description Source: Link
Associated Diseases
| Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
|---|---|---|---|---|---|
| XX testicular DSD (Disorder of Sexual Development) | XX sex reversal, XX DSD testicular/ovotesticular | Multifactorial | - | ||
| Sex reversal, generic | - | - | - | - | |
| Sex reversal: XY female, SRY-positive | - | - | - | - | |
| XY DSD (Disorder of Sexual Development), NR6A1-related | - | - | - |
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | Breed Source |
|---|---|---|---|---|---|
| CB11 | American Staffordshire Terrier | Confident, Smart, Good-natured | 18-19 inches (male), 17-18 inches (female) | 55-70 pounds (male), 40-55 pounds (female) | United States |
| CB24 | English Beagle | Merry, friendly, and curious | 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) |
| CB78 | Cocker Spaniel | Happy, smart, gentle | 36.8-39.4 cm (male), 34.3-36.8 cm (female) | 11.3-13.6 kg (male), 9.1-11.3 kg (female) | |
| 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 |
| CB160 | Miniature Pinscher | Fearless, Fun-Loving, Proud | 25.4-31.8 cm | 3.6-4.5 kg | Germany |
| CB170 | Norwegian Elkhound | Confident, dependable; dignified but friendly | 52.1 cm (male), 49.5 cm (female) | 24.9 kg (male), 21.8 kg (female) | Norway |
Associated Disease Variants from OMIA
Gene Differential Expression
References
| 2020 |
Nowacka-Woszuk,J.,Szczerbal,I.,Stachowiak,M.,Dzimira,S.,Nizanski,W.,Biezynski,J.,Nowak,T.,Gogulski,M.,Switonski,M.: :
Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1. Anim Reprod Sci 223:106632, 2020. Pubmed reference: 33128907 . DOI: 10.1016/j.anireprosci.2020.106632 . |
| 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 |
Krzeminska,P.,Nizanski,W.,Nowacka-Woszuk,J.,Switonski,M.,Krzeminska,P.,Nizanski,W.,Nowacka-Woszuk,J.,Switonski,M.: :
Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet 50:705-711, 2019. Pubmed reference: 31476086 . DOI: 10.1111/age.12850 . |
| 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 |
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 . |
| 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 . |
| 2013 |
Dianovský,J.,Holečková,B.,Hajurka,J.,Šiviková,K.,Cigánková,V.: :
Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet 54:193-9, 2013. Pubmed reference: 23378246 . DOI: 10.1007/s13353-013-0137-1 . |
| 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 . |
| 2009 |
Meyers-Wallen V. :
Inherited disorders of the reproductive tract in dogs and cats Bonagura JD, Twedt DC, eds. Kirk's Current Veterinary Therapy XIV. Missouri: Saunders Elsevier, 2009:1034-1039. |
| 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 |
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 . |
| 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 . |
| 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 |
Mickelsen WD, Memon MA. :
Inherited and congenital disorders of the male and female reproductive systems W.B. Saunders Co., Toronto. E.J. Ettinger and E.C. Feldman (eds.) Textbook of Veterinary Internal Medicine, p. 1686-1690. |
| 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 . |
| 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 . |
| 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 . |
| 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 . |
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Sexual reversal IDID - Inherited diseases in dogs:web-based information for canine inherited disease genetics. 2002-2011. |