INHALT
Pseudohermaphoditismus masculinus
Syndrom der Testikulären Feminisierung
XY-Stuten
Syndrome d'insensibilité aux androgènes - 64,XY, SRY positif
AR (androgen receptor)
OMIA#
OMIA 000991-9796
http://omia.angis.org.au/OMIA000991/9796/
NCBI gene
http://www.ncbi.nlm.nih.gov/gene/?term=100033980
Mutationen
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)
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
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).
DNA-Test
JA (CAG, Certagen, VHL, Van Haeringen Group)
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.:
LITERATURVERZEICHNIS
Bücher
Angus O. McKinnon et al (Ed.) Equine Reproduction 2011, Wiley-Blackwell
Bhanu P. Chowdhary, Equine Genomics, 2013, Wiley-Blackwell
Wissenschaftliche Veröffentlichungen
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
(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.
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)
(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.
(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
(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 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) 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
(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
(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 Seiten
(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 (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
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
<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.
(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
(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
(en) POWER MM, LEADON DP. (1990). Diploid-triploid chimaerism (64, XX/96,XXY) in an intersex foal. Equine Veterinary Journal, 22(3): 211-214
(en) RODGERSON DH, SCHUMACHER J, HANSON RR. (2001). Case presentation - Androgen insensitivity syndrome in a Horse. Equine Rounds, Compendium August 2001, 751 757.
Labor für DNA-Analytik
(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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