COFICHEV

Ovotesticular Disorder of Sexual Development (OT-DSD), Sex reversal - 64,XY, SRY-negative

Contenu

Synonyme (en)
Sex reversal syndrome, 64,XY, SRY-negative
XY female
Français Réversion du sexe 64,XY, SRY-négatif
Synonyme (fr)
Anomalie du développement gonadique
Anomalie du développement sexuel
Réversion de sexe
Réversion sexuelle
Allemand
Sex-Umkehr, 64,XY, SRY-negativ
Gène
 SRY (Sex determining Region of the Y chromosome). SRY assure la régulation du gène SOX9 pendant le développement embryonnaire des testicules
Chromosome ECAY
OMIA#
OMIA 001230-9796
http://omia.angis.org.au/OMIA001230/9796/  
NCBI gene
http://www.ncbi.nlm.nih.gov/gene/100033824
Mutation

Deletion in the Y chromosome that includes the SRY gene (Bugno M et al 2003; Pailhoux E et al, 1995; Raudsepp et al, 2010) => SRY-négatif

Hypothèse: two crossing-over events between the X and Y chromosomes (Bugno M et al 2003)
Mode de transmission
Liée au chromosome Y (Y-linked)
Caractères / symptômes

Réversion sexuelle (64,XY sex reversal, syn. 64,XY DSD): le cheval possède le génotype mâle (caryotype 64,XY, SRY-négatif). Le phénotype (organes génitaux externes) est féminin. Un comportement d’étalon et des canines développées peuvent être observés. Les caractéristiques des gonades peuvent varier d’ovaires fonctionnels à des testicules anormaux sous-cutanés, inguinaux ou abdominaux. Le cervix et l’utérus peuvent être absents.

Kent MG et al (1988) proposent de répartir les anomalies du développement gonadique  des chevaux domestiques (64,XY DSD) en quatre catégories. Classe I: juments quasi normales , en partie fertiles; classe II: phénotype femelle, dysgénésie gonadique (p. ex. clitoris de grande taille), développement normal des dérivés müllériens; classe III: femelles intersexuées, dysgénésie gonadique développement anormal des dérivés müllérien; classe IV: virilisation marquée du phénotype, taux élevé de testostérone.

Un nombre élevé de ces chevaux se révèlent SRY négatif (Abe S et al 1999; Pailhoux E et al, 1995).

Autres sources:

Angus O. McKinnon et al (Ed.) Equine Reproduction 2011, Wiley-Blackwell, ISBN: 978-0-8138-1971-6

Bhanu P. Chowdhary, Equine Genomics, 2013, Wiley-Blackwell, ISBN: 978-0-8138-1563-3
Contraintes

Restriction fonctionnelle héréditaire des organes génitaux. Troubles du comportement qui peuvent rendre difficile la cohabitation avec des congénères; les animaux atteints ne peuvent parfois pas être détenus conformément à leurs besoins.

Les critères déterminants pour l’évaluation des contraintes sont en particulier:

Stratégie d’élevage et mesures
Parents

Test ADN (Hasegawa T et al, 1999, 2000; Pailhoux E et al, 1995); accouplements ciblés, adaptation de la stratégie d’élevage (les animaux porteurs de la mutation ne doivent pas être affectés à l’élevage)

Descendants atteints

Diagnostic (examen ADN, test SRY; examens spécifiques gynécologiques et andrologiques); correction chirurgicale (gonadectomie); traitements hormonaux; adaptation des conditions de garde (détention en groupe ou individuelle)
Races
Toutes
% de porteurs Pas publié
Fondateur Pas publié
Test ADN
OUI (PCR with SRY primers; p. ex. Hasegawa T et al, 1999, 2000; Pailhoux E et al, 1995)
Remarques

Les syndromes de réversion sexuelle sont complexes (hétérogénéité phénotypique et génétique) et devraient encore être précisés.

Les réversions sexuelles et les caractères sexuels ambigus peuvent avoir de multiples causes génétiques:

Des chevaux 64,XX SRY positif n’ont pas été décrits jusqu’à présent (Lear and McGee 2012, cit. Torres A et al 2013).

BIBLIOGRAPHIE

Livres
Angus O. McKinnon et al (Ed.) Equine Reproduction 2011, Wiley-Blackwell, ISBN: 978-0-8138-1971-6
  • (en) ARIGHI M. Developmental Abnormalities of the Male Reproductive Tract. Chapter 106. In McKinnon AO, Squires EL, Vaala WE, Varner DD, edited by (2011). Equine Reproduction. Second Edition, 2011, Wiley-Blackwell, 3132 pages. Pages 1109-1112
  • (en) CHRISTENSEN BW, MEYERS-WALLEN VN. Sex Determination and Differentiation. Chapter 228. In McKinnon AO, Squires EL, Vaala WE, Varner DD, edited by (2011). Equine Reproduction. Second Edition, 2011, Wiley-Blackwell, 3132 pages. Pages 2211-2221
  • (en) DURKIN KW, RAUDSEPP T, CHOWDHARY BP. Cytogenetic Evaluation. Chapter 150. In McKinnon AO, Squires EL, Vaala WE, Varner DD, edited by (2011). Equine Reproduction. Second Edition, 2011, Wiley-Blackwell, 3132 pages. Pages 1462-1468
  • (en) LEAR TL, VILLAGOMEZ DAF. Cytogenetic Evaluation of Mares and Foals. Chapter 207. In McKinnon AO, Squires EL, Vaala WE, Varner DD, edited by (2011). Equine Reproduction. Second Edition, 2011, Wiley-Blackwell, 3132 pages. Pages 1951-1962
  • (en) SCHUMACHER J, VARNER DD. Abnormalities of the Penis and Prepuce. Chapter 109. In McKinnon AO, Squires EL, Vaala WE, Varner DD, edited by (2011). Equine Reproduction. Second Edition, 2011, Wiley-Blackwell, 3132 pages. Pages 1130-1144
Bhanu P. Chowdhary, Equine Genomics, 2013, Wiley-Blackwell, ISBN: 978-0-8138-1563-3
  • ISBN: 978-0-8138-1563-3
  • ISBN: 978-1-118-52212-7 (e-book)
  • Description, contenu, auteurs: WILEY http://eu.wiley.com/WileyCDA/
  • html <http://eu.wiley.com/WileyCDA/WileyTitle/productCd-0813815630.html>
  • [Consulté:22.06.2014]
  • (en) RAUDSEPP T, DAS PJ, CHOWDHARY BP. (2013). Genomics of reproduction and fertility. In Chowdhary BP, Equine Genomics. Wiley-Blackwell, pages 199-216
  • (en) RAUDSEPP T, PARIA N, CHOWDHARY BP. (2013). The Y-Chromosome. In Chowdhary BP, Equine Genomics. Wiley-Blackwell, pages 73-92
Articles scientifiques
2014

(en) ANAYA G, MORENO-MILLÁN M, BUGNO-PONIEWIERSKA M, PAWLINA K, MEMBRILLO A, MOLINA A, DEMYDA-PEYRÁS S. (2014). Sex reversal syndrome in the horse: Four new cases of feminization in individuals carrying a 64,XY SRY negative chromosomal complement. Animal Reproduction Science, 151(1-2): 22-27

  • DOI: 10.1016/j.anireprosci.2014.09.020.
  • Animal Reproduction Science http://www.animalreproductionscience.com/home
  • Abstract <http://www.animalreproductionscience.com/article/S0378-4320%2814%2900296-6/abstract>
  • Pdf <http://www.animalreproductionscience.com/article/S0378-4320(14)00296-6/pdf>
  • [consulté: 16.12.2014]

(en) DEMYDA-PEYRÁS S, ANAYA G, BUGNO-PONIEWIERSKA M, PAWLINA K, MEMBRILLO A, VALERA M, MORENO-MILLÁN M. (2014). The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism. Theriogenology, 81(8):1116-1122

  • DOI: 10.1016/j.theriogenology.2014.01.040
  • Theriogenology http://www.sciencedirect.com/science/journal/0093691X
  • Abstract<http://www.sciencedirect.com/science/article/pii/S0093691X14000740>
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  • [consulté: 16.12.2014]

(en) GHOSH S, QU Z, DAS PJ, FANG E, JURAS R, COTHRAN EG, MCDONELL S, KENNEY DG, CHOWDHARY BP, RAUDSEPP T. (2014) Copy Number Variation in the Horse Genome. PLoS Genetics, 10(10): e1004712.

  • DOI:10.1371/journal.pgen.1004712
  • PLoS Genetics http://www.plosgenetics.org/
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(de) PIEŃKOWSKA-SCHELLING A, BECKER D, BRACHER V, PINEROLI B, SCHELLING C. (2014).Zytogenetische und molekulargenetische Abklärungen bei einem Pferd mit SRY-negativer Sex-Umkehr. Schweizer Archiv für Tierheilkunde, 156 (7), 341-344.

  • DOI: 10.1024/0036-7281/a000604
  • Schweizer Archiv für Tierheilkunde http://www.medcontent.ch/content/0036-7281
  • Abstract: <http://medcontent.metapress.com/content/l4u38346g83250g1/>
  • Pdf <http://medcontent.metapress.com/content/l4u38346g83250g1/fulltext.pdf>
  • [Consulté: 21.07.2014]
2013

(en) TORRES A,  SILVA J F, BERNARDES N, SALES LUÍS J, LOPES DA COSTA L. (2013). 64, XX, SRY-negative, Testicular DSD Syndrome in a Lusitano Horse. Reproduction in Domestic Animals, 48(3):e33-37

2012

(en) GHOSH S, DAS PJ, QU Z, FANG E, ARNOLD C, ADELSON DL, CHOWDHARY BP, RAUDSEPP T. (2012). Array CGH Studies in equine disorders of sexual development - SRY-positive sex reversal and cryptorchidism. 42nd Biennial American Cytogenetics Conference, Cytogenetic and Genome Research, 136(4): 314-359, #15.

(en) LEAR TL, MCGEE RB (2012).Disorders of sexual development in the domestic horse, Equus caballus. Sexual Development, 6(1-3): 61-71. . [Special Issue: Disorders of Sex Development in Domestic Animals ; ISBN: 978-3-8055-9959-7]

(en) MILLÁN M, DEMYDA SE, SALENO DR. (2012). Sex Chromosomes Abnormalities in Purebred Spanish Horses with Reproductive Problems: Cases Report. Bulletin UASMV, Veterinary Medicine, 69(1-2)

  • Bulletin UASMV, Veterinary Medicine http://journals.usamvcluj.ro/index.php/veterinary
  • Abstract <http://journals.usamvcluj.ro/index.php/veterinary/article/view/8365>
  • Pdf <http://journals.usamvcluj.ro/index.php/veterinary/article/view/8365/7103>
  • [Consulté: 05.02.2015]

(en) PUJAR S, MEYERS-WALEN VN. (2012). Sequence Variations in Equine Candidate Genes For XX and XY Inherited Disorders of Sexual Development. Reproduction in Domestic animals,47: 827–834.

  • DOI: 10.1111/j.1439-0531.2011.01976.x
  • Reproduction in Domestic animals http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1439-0531
  • Abstract: <http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0531.2011.01976.x/abstract>
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  • [Consulté: 21.07.2014]

(en) RAUDSEPP T, FANG E, QU Z, GHOSH S, DAS PJ, ARNOLD C, MCDONNELL S, ADELSON DL, CHOWDHARY BP. (2012). Genomic Copy Number Variation in Horses with Disorders of Sexual Development. Plant and Animal Genome XX Conference, January 14-18, 2012, San Diego, CA, USA, #W257

  • Abstract <https://pag.confex.com/pag/xx/webprogram/Paper3829.html>
  • [Consulté: 26.09.2014]
2011

(de) DIETZE K, KAMPMANN C, KUIPER H, KUHN M. (2011). Sex Reversal Syndrom bei einem fünfjährigen Friesenpferd. Pferdeheilkunde, 27(1): 49-54

(en) FANG E. (2011). Molecular Studies in Horses with SRY-Positive XY Sex Reversal. Master's thesis, Texas A&M University, 120 pages

(en) VILLAGÓMEZ DA, LEAR TL, CHENIER T, LEE S, MCGEE RB, CAHILL J, FOSTER RA, REYES E, ST JOHN E, KING W.A. (2011). Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes. Sexual development 5(1),16-25

2010

(en) DE LORENZI L, GENUALDO V, IANNUZZI A, DI MEO GP, PERUCATTI A, MANCUSO R, RUSSO M, DI BERARDINO D, PARMA P, IANNUZZI L. (2010). Cytogenetic and genetic studies in a hypospadic horse (Equus caballus, 2n = 64). Sexual Development, 4(6):352-357

(en) GIESECKE K, SIEME H, DISTL O. (2010). Infertility and candidate gene markers for fertility in stallions: A review. The Veterinary Journal, 185 (3): 265–271

  • DOI: 10.1016/j.tvjl.2009.07.024
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  • [Consulté: 27.09.2014]

(en) RAUDSEPP T, DURKIN K, LEAR TL, DAS PJ, AVILA F KACHROO P, CHOWDHARY BP. (2010). Molecular heterogeneity of XY sex reversal in horses. Horse Genomics and the Dorothy Russell Havemeyer Foundation, Special Issue Co-ordinator: E. Bailey, Animal Genetics, 41(s2): 41-52

2009

en) MCGEE RB, LEAR TL. (2009). Identifying Mutation of the SRY Gene in Horses with Sex-Reversal Syndrome. Proceedings of the 21st Equine Science Society Symposium, Journal of Equine Veterinary Science, 29(5): 317–318

  • DOI: 10.1016/j.jevs.2009.04.024
  • Journal of Equine Veterinary Science http://www.sciencedirect.com/science/journal/07370806
  • Abstract <http://www.sciencedirect.com/science/article/pii/S0737080609002895>
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  • [Consulté: 27.09.2014]
2008

(en) CHOWDHARY BP, PARIA N AND RAUDSEPP T. (2008). Potential applications of equine genomics in dissecting diseases and fertility. Animal Reproduction Science, Special Issue: Proceedings of the 5th International Symposium on Stallion Reproduction, 107(3): 208-218

  • DOI: 10.1016/j.anireprosci.2008.04.010
  • Animal Reproduction Science http://www.journals.elsevier.com/animal-reproduction-science/
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(en) EDWARDS JF. (2008). Pathologic conditions of the stallion reproductive tract. Animal Reproduction Science, Special Issue: Proceedings of the 5th International Symposium on Stallion Reproduction, 107(3): 197-207

  • DOI:10.1016/j.anireprosci.2008.05.002
  • Animal Reproduction Science http://www.journals.elsevier.com/animal-reproduction-science/
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(en) LEAR TL, BAILEY E. (2008). Equine clinical cytogenetics: the past and future. Cytogenetic and Genome Research, 120(1-2): 42–49

2007

(en) LEEB T. (2007). The Horse Genome Project – Sequence Based Insights into Male Reproductive Mechanisms. Reproduction in Domestic Animals, 42(s2): 45–50

  • DOI: 10.1111/j.1439-0531.2007.00897.x
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2005

(en) KAKOI H, HIROTA K, GAWAHARA H, KUROSAWA M, KUWAJIMA M. (2005). Genetic diagnosis of sex chromosome aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers. Equine Veterinary journal, 31(4): 236-349

(en) LEEB T, SIEME H, TÖPFER-PETERSEN E. (2005). Genetic markers for stallion fertility—lessons from humans and mice. Animal Reproduction Science, 89(1-4): 21–29

  • DOI: 10.1016/j.anireprosci.2005.06.021
  • Animal Reproduction Science http://www.sciencedirect.com/science/journal/03784320
  • Abstract <http://www.sciencedirect.com/science/article/pii/S0378432005001922>
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(fr) MATEOS H. (2005). L’intersexualité en espèce équine (Equus caballus) : mise au point d’un test de diagnostic moléculaire. Thèse, École nationale vétérinaire de Lyon, 190 pages

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2004

(en) IANNUZZI L, DI MEO GP, PERUCATTI A, SPADETTA M, INCARNATO D, PARMA P, IANNUZZI A, CIOTOLA F, PERETTI V, PERROTTA G, DI PALO R. (2004). Clinical, cytogenetic and molecular studies on sterile stallion and mare affected by XXY and sex reversal syndromes, respectively. Caryologia, 57(4): 400-404

  • DOI: 10.1080/00087114.2004.10589423
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(en) SANTANI AB. (2004). Genomic analysis of the horse Y chromosome. Dissertation Texas A&M University, 163 pages

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<2004

(en) ABE S, MIYAKE Y-I, KAGEYAMA S-I, WATANABE G, TAYA K, KAWAKURA K. (1999). Deletion of the Sry region on the Y chromosome detected in a case of equine gonadal hypoplasia (XY female) with abnormal hormonal profiles. Equine Veterinary Journal, 31(4): 236–238

  • DOI: 10.1111/j.2042-3306.1999.tb03813.x
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(en) BUGNO M, KLUKOWSKA J, SŁOTA E, TISCHNER M, ŚWITOŃSKI M. (2003). A sporadic case of the sex-reversed mare (64,XY; SRY-negative): molecular and cytogenetic studies of the Y chromosome. Theriogenology, 59(7): 1597–1603

  • DOI: 10.1016/S0093-691X(02)01197-4
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(en) HASEGAWA T, ISHIDA M, HARIGAYA T, SATO F, ISHIDA N, MUKOYAMA H. (1999). Linear SRY Transcript in Equine Testis. The Journal of Veterinary Medical Science, 61(1): 97-100

  • DOI: 10.1292/jvms.61.97
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(en) HASEGAWA T, SATO F, ISHIDA N, FUKUSHIMA Y, MUKOYAMA H. (2000). Sex determination by simultaneous amplification of equine SRY and amelogenin genes. The Journal of Veterinary Medical Science, 62(10):1109-1110

  • DOI: 10.1292/jvms.62.1109
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(en) HIROTA K, PIUMI F, SATO F, ISHIDA N, GUÉRIN G, MIURA N, HASEGAWA T. (2001). FISH assignment of two equine BAC clones containing SRY and ZFY. Animal Genetics, 32(5): 326-327

(en) KENT MG, SHOFFNER RN, HUNTER A, ELLISTON KO, SCHRODER W, TOLLEY E, WACHTEL SS. (1988). XY sex reversal syndrome in the mare: clinical and behavioral studies, H-Y phenotype. Human Genetics, 79(4): 321-328

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(en) MÄKINEN A, HASEGAWA T, MAKILA M, KATILA T. (1999). Infertility in two mares with XY and XXX sex chromosomes. Equine Veterinary Journal, 31(4): 346-349

  • DOI: 10.1111/j.2042-3306.1999.tb03829.x
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(en) PAILHOUX E, CRIBIU EP, PARMA P, COTINOT C. (1995). Molecular Analysis of an XY Mare with Gonadal Dysgenesis. Hereditas, 122(2): 109–112

(en) POWER MM, LEADON DP. (1990). Diploid-triploid chimaerism (64, XX/96,XXY) in an intersex foal. Equine Veterinary Journal, 22(3): 211-214

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Sites internet

(en) FINELY B. (2009). Another sex dispute, but this athlete has four legs. The New York Times, 06 Aug 2009.

(en) KRAFT Nicole (2009). He or She? Genetic tests reveal surprising truth about pacing ‘mare’ Arizona Helen. HOOF BEATS, July 2009, 61-67

(de) SCHELLING Claude (2014). Warum wird meine Stute nicht trächtig? PferdeWoche 14.01.2014

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