Synonym (en) | Testicular feminization (XTfmY) |
Deutsch | Androgen Insuffizienz Syndrom (AIS) - 64,XY, SRY-positiv |
Synonym (de) |
Pseudohermaphoditismus masculinus
Syndrom der Testikulären Feminisierung
XY-Stuten
|
Französisch |
Syndrome d'insensibilité aux androgènes - 64,XY, SRY positif |
Gen |
AR (androgen receptor)
|
Chromosom | ECAX |
OMIA#
|
OMIA 000991-9796
|
NCBI gene
|
|
Mutationen
|
GTG mutation in the start codon (c.1A>G)
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) |
Erbgang
|
X-linked recessive
|
Merkmale / Symptome
|
Androgenenrezeptordefekte stören die körperliche Geschlechtsentwicklung der männlichen Tiere (Karyotyp: 64,XY, SRY-positiv). Normale weibliche äussere Genitalien, ev. nicht eindeutige Geschlechtsmerkmale, rudimentäre Anteilen des weiblichen Geschlechtstrakts (Hypoplasie); intraabdominal liegende Hoden (Kryptorchismus), Hengstverhalten, Fruchtbarkeitstörungen, Unfruchtbarkeit. Syndrom der Testikulären Feminisierung. Erhöhte Testosteronwerte (=> Dopingprobleme für Renn- und Sportpferde, Dierks C et al 2015). 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 Einschränkung der Funktionen der Geschlechtsorgane. Verhaltensstörungen, die das Zusammenleben mit Artgenossen erschweren können; betroffene Tiere können manchmal nicht artgerecht gehalten werden. Massgebende Kriterien für die Beurteilung der Belastungen sind insbesondere:
Zuchtstrategie und Massnahmen
Eltern
DNA-Untersuchung der ursächlichen Mutation (Revay T et al, 2012; Bolzon C et al 2016); gezielte Anpaarungen; Anpassung der Zuchtstrategie (Träger nicht als Zuchtpferde einsetzen). Betroffene Nachkommen
Diagnose (DNA-Untersuchung, SRY Labortest; spezielle gynäkologische und andrologische Untersuchung); Anpassung der Haltungsform (Gruppenhaltung, Einzelhaltung); chirurgische Korrektur (Gonadektomie). |
Rassen | American Quarter Horse, engl. Vollbut. Ev. Paso Fino, Standardbred (Amerikanischer Traber), Clydesdale, Percheron, Araber |
Trägerfrequenz (%) | Nicht veröffentlicht |
Gründer | Nicht veröffentlicht |
DNA-Test
|
|
Bemerkungen |
Die Sex-Umkehr Syndrome sind komplex (phänotypische und genotypische Heterogenität) und sollten noch genauer beschrieben werden. Das nicht eindeutige Körpergeschlecht und die Sex-Umkehr Syndrome können zahlreiche und unterschiedliche genetische Ursachen haben, z.B.:
|
Angus O. McKinnon et al (Ed.) Equine Reproduction 2011, Wiley-Blackwell
- ISBN 978-0-8138-1971-6
- Beschreibung, Inhalt, Autoren http://eu.wiley.com/WileyCDA/WileyTitle/productCd-0813819717.html
- [Stand: 22.06.2014]
- (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. S.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. S. 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. S. 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. S. 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. S. 1130-1144
Bhanu P. Chowdhary, Equine Genomics, 2013, Wiley-Blackwell
- 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, pages 199-216
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(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
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- [Stand: 18.02.2017]
(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
- DOI: 10.1159/000444991
- Sexual Development http://www.karger.com/Journal/Home/231547
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- [Stand: 23.04.2016]
(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
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- Berliner und Münchener Tierärztliche Wochenschrift http://vetline.schluetersche.de/berliner-und-muenchener-tieraerztliche-wochenschrift/158/2812
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- [Stand: 04.09.2015]
(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
- DOI: 10.2376/0005-9366-128-335
- Berliner und Münchener Tierärztliche Wochenschrift http://vetline.schluetersche.de/berliner-und-muenchener-tieraerztliche-wochenschrift/158/2812
- Abstract <http://cf02.vetline.schluetersche.de/elevated-testosterone-levels-in-a-racing-horse-due-to-an-xy-testicular-disorder-of-sexual-development/150/3130/88701>
- [Stand: 04.09.2015]
(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
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- [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.
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- [Stand: 30.10.2014]
(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
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- [Stand: 27.09.2014]
(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.
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- [Stand: 27.09.2014]
(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)
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- [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.
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- [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
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- [Stand: 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]
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- [Stand: 21.07.2014]
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- [Stand: 21.07.2014]
(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
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- [Consulté: 27.09.2014]
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- [Stand: 21.07.2014]
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- [Stand: 21.07.2014]
(en) Certagen GmbH - DNA tests genetic diseases, AIS, Androgen Insensitivity Syndrome
- html http://www.certagen.de/en-us/dnatests/horse/geneticdiseases.aspx
- Order Form http://www.certagen.de/Portals/7/Documents/Order%20Forms/Pferd_Gentest_en.pdf
- [Stand: 27.09.2015]