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Androgen insensitivity syndrome (AIS) - 64,XY, SRY-positive

Contenu

Synonyme (en) Testicular feminization (XTfmY)
Français
Syndrome d'insensibilité aux androgènes - 64,XY, SRY positif
Synonyme (fr) Syndrome du testicule féminisant (STF)
Allemand
 Androgen Insuffizienz Syndrom- 64,XY, SRY-positiv
Gène
AR (androgen receptor)
Chromosome ECAX
OMIA#
OMIA 000991-9796
http://omia.angis.org.au/OMIA000991/9796/
NCBI gene
http://www.ncbi.nlm.nih.gov/gene/?term=100033980
Mutations
GTG mutation in the start codon (c.1A>G)
(Revay T et al, 2012)
Missense mutation (c.2042G>C) at AR exon 4, Thoroughbred horse (Bolzon C et al 2016)
25-bp Deletion of the DNA-Binding Domain (Welsford GE et al 2017)
Mode de transmission
Récessif lié au chromosome X
Caractères / symptômes
Le dysfonctionnement des récepteurs aux androgènes provoque des troubles du développement sexuel corporel des mâles (caryotype: 64,XY SRY -positif). Organes génitaux externes femelles normaux, ev. caractères sexuels ambigus, organes génitaux externes femelles en partie rudimentaires (hypoplasie); testicules intra-abdominaux (cryptorchidie), comportement d’étalon, troubles de la fécondité, stérilité. Syndrome du testicule féminisant. Taux élevé de testostérone (=> problème de doping chez les chevaux de sport de course, Dierks C et al 2015).

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

Recherche ADN de la mutation causale (Revay T et al, 2012; Bolzon C et al 2016); accouplements ciblés; adaptation de la stratégie d’élevage (les animaux porteurs ne devraient pas être affectés à l’élevage).

Descendants atteints
Diagnostic (examen ADN, test SRY; examen spécifique gynécologique et andrologique); adaptation des conditions de garde (détention en groupe ou individuelle); correction chirurgicale (gonadectomie).
Races
 American Quarter Horse, pur-sang anglais. Ev. paso fino, standardbred  (trotteur américain), clydesdale, percheron, arabe
% de porteurs Pas publié
Fondateur Pas publié
Test ADN
OUI (CAG, Certagen, VHL, Van Haeringen Group)
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
  • (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: 978-1-118-52212-7 (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
2017

(en) WELSFORD GE, MUNK R, VILLAGÓMEZ DAF, HYTTEL P, KING WA, REVAY T. (2017). Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene. Sexual Development, 11(1), 2017

2016

(en) BOLZON C, JOONÈ CJ, SCHULMAN ML, HARPER CK, VILLAGÓMEZ DAF, KING WA, RÉVAY T. (2016). Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64, XY (SRY+) Disorder of Sex Development. Sexual Development,10(1): 37-44

2015

(en) DIERKS C, SIEME H, PIECHOTTA M, LEHNER S, MERKT J, UPHAUS H, KLUG E, DISTL O. (2015). Elevated testosterone levels in a racing horse due to an XY testicular disorder of sexual development [Erhöhte Testosteronlevel bei einem Rennpferd als Folge einer XY testikulären Störung der Geschlechtsdifferenzierung]. Berliner und Münchener Tierärztliche Wochenschrift, 128(7-8): 335-339

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>
  • [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/
  • 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>
  • [Consulté: 30.10.2014]
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) 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>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0531.2011.01976.x/pdf>
  • [Consulté le 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]

(en) REVAY T, VILLAGOMEZ DA, BREWER D, CHENIER T and KING WA. (2012). GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development. Sexual development 6 (1-3), 108-116. [Special Issue: Disorders of Sex Development in Domestic Animals ; ISBN: 978-3-8055-9959-7]

2011

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

  • pdf <http://oaktrust.library.tamu.edu/bitstream/handle/1969.1/ETD-TAMU-2011-12-10580/FANG-THESIS.pdf?sequence=2&isAllowed=y>
  • [Consulté: 26.09.2014]

(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) 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

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>
  • [Consulté: 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>
  • [Consulté: 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

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

(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

  • Portail documentaire du campus vétérinaire de Lyon http://portaildoc-veto.vetagro-sup.fr/
  • Pdf <http://www2.vetagro-sup.fr/bib/fondoc/th_sout/dl.php?file=2005lyon062.pdf>
  • [Consulté: 27.09.2014]

(en) SWITONSKI M, CHMURZYNSKA A, SZCZERBAL I, LIPCZYNSKI A, YANG F, NOWICKA-POSLUSZNA A. (2005). Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour. Journal of animal breeding and genetics, 122 Suppl 1:60-63

  • DOI: 10.1111/j.1439-0388.2005.00510.x
  • Journal of animal breeding and genetics (Zeitschrift für Tierzüchtung und Züchtungsbiologie) http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1439-0388
  • Abstract: <http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0388.2005.00510.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.1439-0388.2005.00510.x/pdf> 
  • [Consulté le 21.07.2014]
2004

(en) HOWDEN KJ. (2004). Androgen insensitivity syndrome in a Thoroughbred mare (64, XY — testicular feminization). The Canadian Veterinary Journal. 45(6): 501–503.

(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
  • Caryologia, International Journal of Cytology, Cytosystematics and Cytogenetics http://www.tandfonline.com/loi/tcar20#
  • Abstract <http://www.tandfonline.com/doi/abs/10.1080/00087114.2004.10589423#.VCfF_RbJBEM>
  • Pdf <http://www.tandfonline.com/doi/pdf/10.1080/00087114.2004.10589423>
  • [Consulté: 29.09.2014]
<2004

(en) BARTMANN CP, LORBER KJ. (2003). Laparoscopic gonadectomy in two half-sister horses with male pseudohermaphroditism of the testicular feminisation type. Equine Veterinary Education, 15(6): 299-304.

  • DOI: 10.1111/j.2042-3292.2003.tb00253.x
  • Equine Veterinary Education http://onlinelibrary.wiley.com/journal/10.1001/(ISSN)2042-3292
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.2042-3292.2003.tb00253.x/abstract>
  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.2042-3292.2003.tb00253.x/pdf>
  • [Consulté le 21.07.2014]

(en) CRABBE BG, FREEMAN DA, GRANT BD, KENNEDY P, WHITLATCH L, MACRAE K. (1992). Testicular feminization syndrome in a mare. J Am Vet Med Assoc. 1992 Jun 1;200(11):1689-91.

(en) KIEFFER NM, BURNS SJ, JUDGE NG. (1976). Male pseudohermaphroditism of the testicular feminizing type in a horse. Equine Veterinary Journal;8:38-41

  • [Consulté le 21.07.2014]

(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
  • Equine Veterinary Journal http://onlinelibrary.wiley.com/journal/10.1001/(ISSN)2042-3306
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  • Pdf <http://onlinelibrary.wiley.com/doi/10.1111/j.2042-3306.1999.tb03829.x/pdf>
  • [Consulté: 29.09.2014]

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

  • DOI: 10.1111/j.2042-3306.1990.tb04250.x
  • Equine Veterinary Journal http://onlinelibrary.wiley.com/journal/10.1001/(ISSN)2042-3306
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  • [Consulté: 29.09.2014]

(en) RODGERSON DH, SCHUMACHER J, HANSON RR. (2001). Case presentation - Androgen insensitivity syndrome in a Horse. Equine Rounds, Compendium August 2001, 751 757.

  • Equine Rounds www.vetlearn.com
  • pdf <http://s3.amazonaws.com/assets.prod.vetlearn.com/mmah/1d/9999e7cfe74f1c92e42726ee37706e/filePV_23_08_751.pdf>
  • [Consulté: 21.07.2014]
Laboratoire d'analyses ADN

(de) CAG GmbH - Center for Animal Genetics, Androgen Insensitivity Syndrome (AIS)

(en) Certagen GmbH - DNA tests genetic diseases, AIS, Androgen Insensitivity Syndrome

(en) VHL, Van Haeringen Group, DNA tests, Genetic diseases P506 Androgen insensitivity syndrome (AIS)

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