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

INHALT

Synonym (en)

Sex reversal syndrome

XY female
Deutsch Sex-Umkehr, 64,XY, SRY-negativ
Synonym (de)

Geschlechtsdifferenzierungsstörungen

Intersexualität 

Sexualdifferenzierungsstörungen

Störungen der Geschlechtsentwicklung

Französisch

 Réversion du sexe 

Gen

SRY (Sex determining Region of the Y chromosome). Während der Hodenentwicklung reguliert SRY das Gen SOX9
Chromosom ECAY

OMIA#

OMIA 001230-9796

http://omia.angis.org.au/OMIA001230/9796/  

NCBI gene

http://www.ncbi.nlm.nih.gov/gene/100033824

Mutationen

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-negativ

Hypothese: two crossing-over events between the X and Y chromosomes (Bugno M et al 2003)

Erbgang

Y-chromosomal (Y-linked)

Merkmale / Symptome

Sex-Umkehr (64,XY sex reversal, Syn. 64,XY DSD): das Pferd ist genotypisch männlich (Karyotyp 64,XY, SRY-negativ). Der Phänotyp (äussere Genitalien) ist weiblich. Hengstverhalten und vollständig ausgebildete Eckzähne können beobachtet werden. Die Charakteristika der Gonaden variieren von fertilen Ovarien bis hin zu missgebildeten Hoden, die entweder subkutan, inguinal oder auch abdominal liegen können. Zervix und Gebärmutter können fehlen.

Kent MG et al (1988) schlagen vor, die Störungen der Geschlechtsentwicklung beim Hauspferd (64,XY DSD) in vier Grundtypen zu unterteilen. Klasse I: fast normale Stuten, teilweise fruchtbar; Klasse II: phänotypisch weiblich, Dysgenesie der Gonaden (z.B. Vergrösserung der Klitoris) und normal entwickelte Müllersche Gänge; Klasse III: feminisierte Tiere (Intersex), Dysgenesie der Gonaden und unterentwickelte Müllersche Gänge; Klasse IV: deutliche Virilisierung des Phänotyps und hohe Testosteronwerte.

Ein Grossteil dieser Tiere erwies sich als SRY-negativ (Pailhoux E et al, 1995; Abe S et al 1999).

Andere Quellen:

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
Belastungen Erblich bedingte Funktionseinschränkung der Geschlechtsorgane. Verhaltensstörungen, die das Zusammenleben mit Artgenossen erschweren können; die betroffenen Tiere können manchmal nicht artgerecht gehalten werden.

Massgebende Kriterien für die Beurteilung der Belastungen sind insbesondere:

Zuchtstrategie und Massnahmen

Eltern

DNA-Test (Hasegawa T et al 1999, 2000; Pailhoux E et al, 1995); gezielte Anpaarungen; Anpassung der Zuchtstrategie (Mutationsträger sollen in der Zucht nicht eingesetzt werden)

Betroffene Nachkommen

Diagnose (DNA-Test, SRY Laborttest, spezielle gynäkologische und andrologische Untersuchung); chirurgische Korrektur (Gonadektomie); Hormonbehandlungen; Anpassung der Haltungsform (Gruppenhaltung, Einzelhaltung)
Rasse Alle
Allelfrequenz (%) Nicht veröffentlicht
Trägerfrequenz (%) Selten
Gründer Nicht veröffentlicht

DNA-Test

JA (PCR with SRY primers; z.B. Hasegawa T et al 1999, 2000; Pailhoux E et al, 1995)

Bemerkungen

Die Sex-Umkehr Syndrome sind komplex (phänotypische und genotypische Heterogenität) und sollten noch besser beschrieben werden.

Die nichteindeutigen Körpergeschlechtsmerkmale und die Sex-Umkehr Syndrome können verschiedene genetische Ursachen haben, z.B: 

64,XX SRY-positive Pferde wurden bis jetzt nicht beschrieben (Lear and McGee 2012, cit. Torres A et al 2013).

LITERATURVERZEICHNIS

Bücher

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 Seiten. Seiten 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 Seiten. Seiten 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 Seiten. Seiten 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 Seiten. Seiten 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 Seiten. Seiten 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)
  • Beschreibung, Inhalt, Autoren: WILEY http://eu.wiley.com/WileyCDA/
  • html <http://eu.wiley.com/WileyCDA/WileyTitle/productCd-0813815630.html>
  • [Stand:22.06.2014]
  • (en) RAUDSEPP T, DAS PJ, CHOWDHARY BP. (2013). Genomics of reproduction and fertility. In Chowdhary BP, Equine Genomics. Wiley-Blackwell, Seiten 199-216
  • (en) RAUDSEPP T, PARIA N, CHOWDHARY BP. (2013). The Y-Chromosome. In Chowdhary BP, Equine Genomics. Wiley-Blackwell, Seiten 73-92

Wissenschaftliche Veröffentlichungen

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>
  • [Stand: 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>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S0093691X14000740/pdfft?md5=68a1fbfe0da8af316f6f347965f2f2e7&pid=1-s2.0-S0093691X14000740-main.pdf>
  • [Stand: 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/
  • Abstract <http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1004712#abstract0>
  • Pdf <http://www.plosgenetics.org/article/fetchObject.action?uri=info%3Adoi%2F10.1371%2Fjournal.pgen.1004712&representation=PDF>
  • [Stand: 30.10.2014]

(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>
  • [Stand: 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>
  • [Stand: 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>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0531.2011.01976.x/pdf>
  • [Stand: 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>
  • [Stand: 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 Seiten

(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
  • The Veterinary Journal http://www.sciencedirect.com/science/journal/10900233
  • Abstract <http://www.sciencedirect.com/science/article/pii/S1090023309003001>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S1090023309003001/pdf?md5=379e22ce5d069d4450d88eacda9f7cf9&pid=1-s2.0-S1090023309003001-main.pdf>
  • [Stand: 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>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S0737080609002895/pdfft?md5=5f511a18fa278a4f6fe017b481804576&pid=1-s2.0-S0737080609002895-main.pdf>
  • [Stand: 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/
  • Abstract <http://www.sciencedirect.com/science/journal/03784320/107/3-4>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S0378432008001395/pdfft?md5=ac2540e0479d509dbeef71173dc4edbe&pid=1-s2.0-S0378432008001395-main.pdf>
  • [Stand: 27.09.2014]

(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/
  • Abstract <http://www.sciencedirect.com/science/journal/03784320/107/3-4>
  • Pdf < http://www.sciencedirect.com/science/article/pii/S0378432008001620/pdfft?md5=be818dfd01173791c47a9c2e8b2b207a&pid=1-s2.0-S0378432008001620-main.pdf>
  • [Stand: 27.09.2014]

(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
  • Reproduction in Domestic Animals http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1439-0531
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0531.2007.00897.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0531.2007.00897.x/pdf>
  • [Stand: 27.09.2014]

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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  • [Stand: 29.09.2014]

(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 Seiten

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  • [Stand: 27.09.2014]

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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  • Pdf <http://www.tandfonline.com/doi/pdf/10.1080/00087114.2004.10589423>
  • [Stand: 29.09.2014]

(en) SANTANI AB. (2004). Genomic analysis of the horse Y chromosome. Dissertation Texas A&M University, 163 pages

  • Abstract <http://oaktrust.library.tamu.edu/handle/1969.1/1494>
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  • [Stand: 29.09.2014]

<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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  • [Stand: 29.09.2014]

(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
  • Theriogenology http://www.sciencedirect.com/science/journal/0093691X
  • Abstract <http://www.sciencedirect.com/science/article/pii/S0093691X02011974>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S0093691X02011974/pdf?md5=30d11cbf4fccb2a4abfcea8f83ed4fe7&pid=1-s2.0-S0093691X02011974-main.pdf>
  • [Stand: 29.09.2014]

(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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  • Pdf <https://www.jstage.jst.go.jp/article/jvms/61/1/61_1_97/_pdf>
  • [Stand: 21.07.2014]

(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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  • [Stand: 21.07.2014]

(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

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  • [Stand: 29.09.2014]

(en) MAKINEN 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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  • [Stand: 29.09.2014]

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(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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  • [Stand: 29.09.2014]

Webseiten

(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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