Cryptorchidism

Contenu

Synonyme (en)

Retained testicles

Retained testes

Undescended testicle
Français Cryptorchidie

Synonyme (fr)

Cryptorchidisme 

Allemand

Kryptorchismus
Latin Retentio testis

Gènes

Gènes candidats (>200)

AKR1C gen family, INSL3, RXFP2, CALCA, ESR1, AR, HOX, SOX, DAX, FGF (Ghosh S 2015, Ghosh S et al 2016)

RXFP2 (relaxin/insulin-like family peptide receptor 2), Pujar S et al 2012

AMH (Anti-Müllerian hormone), Ball BA et al 2008

Hypothèses

Tares d’origine polygénique et effets géniques en cascade (Diribarne M et al 2009)

Gènes spécifiques à des races; le testicule intra-abdominal, le testicule inguinal ou d’autres anomalies urogénitales correspondent à des caractères différents (Stout TAE 2013)
Chromosomes

Par exemple

ECA7 (AMH), ECA17 (RXFP2), ECA29 (AKR1C)

OMIA#

OMIA 000243-9796 : Cryptorchidism in Equus caballus

http://omia.angis.org.au/OMIA000243/9796/  

NCBI gene

Par exemple

AKR1C http://www.ncbi.nlm.nih.gov/gene/100034073

AMH http://www.ncbi.nlm.nih.gov/gene/102148318

RXFP2 http://www.ncbi.nlm.nih.gov/gene/100033993 

Mutations

CNV, AKR1C

CNV (Variabilité du nombre de copies d’un gène, copy number variants) dans une région de ECA29; délétion de 300 kb dans ECA29; the deletion disrupted a cluster of AKR1C genes (Ghosh S et al 2012, 2014, 2015; Ghosh S 2015; Raudsepp T et al 2012)

RXFP2

“Of the three candidate genes for isolated cryptorchidism four intronic SNPs were identified in RXFP2, and no variants were identified in CALCA or INSL3” (Pujar S et al 2012)

Mode de transmission

Transmission héréditaire complexe et hétérogène.

Le mode de transmission n’est pas encore identifié.

Observations et hypothèses: prédisposition familiale, caractère monogénique autosomique dominant, monogénique autosomique récessif, lié au sexe, polygénique (Leipold HW et al 1986, cit. in Basrur PK et al 2004)

Héritabilité: 0.30-0.45 (Eriksson S et al 2013, 2015)

Caractères / maladie

Cryptorchidie: absence d'un ou des deux testicules dans le scrotum. Chez les chevaux, le testicule descend pendant une période couvrant 30 jours avant et 10-30 jours après la naissance.

Dans la majorité des cas, la cryptorchidie est unilatérale. La majorité des testicules sont observés dans le canal inguinal (palpation, échographie), dans le cas contraire, il peut s’agir d’un testicule intra-abdominal (testicule gauche > droite; proportion 25:10, Cox JE et al 1979; Ortved K 2014).

Il n’existe pas de thérapie hormonale qui assure la descente d’un testicule (Aurich C, 2008).

La cryptorchidie peut apparaître comme tare isolée ou comme composante d’une autre tare congénitale avec réversion du sexe ou aberration chromosomique (seulement quelques pourcents des testicules cryptorchides), par exemple

Pathophysiologie

Troubles de la spermatogénèse; processus anormal de maturation des cellules de Sertoli dans le testicule cryptorchide. Une expression anormale du gène AMH (=> possibilité de diagnostic, Claes ANJ 2013, 2014a, 2014b), AR, CDKN1B, Cx43, FGF10, HOXA10, HOXA11, HSD3B1, INSL3, RXFP2 a été observée (Ball BA et al 2008; Almeida J et al 2013; Pujar S et al 2012; Raudsepp T et al 2013)

Des facteurs hormonaux (androgènes; hormone anti-müllerienne (AMH)), mécaniques (adhérences abdominales du testicule, persistance des dérivés müllériens, canal inguinal trop étroit (dysfonction du gubernaculum testis, Ortved K 2014), etc.), génétiques et épigénétiques sont décisifs pour une migration infructueuse du testicule. (Raudsepp T et al 2013)

Conséquences

Troubles comportementaux: comportement agressif potentiel (étalon pif; all. Klopphengst, Spitzhengst; engl. ridgling, rig, ridgel, ridgeling).

Risques: Tumeurs malignes des testicules (Basrur PK et al 2004; Edwards JF 2008; Pratt S et al 2003; Smith BL et al 1989)


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

Christine Aurich, Reproduktionsmedizin beim Pferd: Gynäkologie - Andrologie – Geburtshilfe. Georg Thieme Verlag, 2. Auflage 2008, ISBN: 9783830441793
Contraintes

Restriction d’une fonction organique (organes génitaux); La qualité de la vie peut être affectée; troubles du comportement qui peut rendre difficile la cohabitation avec des congénères; les animaux atteints ne peuvent parfois pas être détenus conformément à leurs besoins; risque d’automutilation; risque de frustration et de mauvais traitements si le cheval est puni injustement. La castration est rendue considérablement plus difficile et plus coûteuse.

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

Stratégie d’élevage et mesures

Parents

Accouplements ciblés, modification de la stratégie d’élevage et des mesures de sélection (les parents d’animaux atteints doivent être exclus de l’élevage).

Descendants atteints

Diagnostic (examen spécifique andrologique; Grunert K 2012, analyse du taux de AMH, Claes ANJ 2013, 2014a, 2014b; Murase H 2015; Parker RA 2015); diagnostic différentiel: la très rare agénésie gonadique (monorchidie; Basrur PK et al 1969); dans tous les cas, les animaux atteints doivent être exclus de l’élevage ; correction chirurgicale (gonadectomie).

Races

American Standardbred (trotteur américain), American Saddle horse, arabe, percheron, quarter horse, trotteur français, pur-sang anglais et races de poney semblent prédisposés (Diribarne M et al 2009; Basrur PK et al 2004; Hayes HM 1986); toutes les races

Races asines (Kumi-Diaka J et al 1981)
% de porteurs

2-8% (Cox JE et al 1979; Ghosh S et al, 2014; Raudsepp T et al 2012)

Cheval islandais: chez les chevaux âgés de 4 à 5 ans, le testicule gauche était présent dans le scrotum dans 97,7% et le droite dans 81,4% des cas (Grunert K 2012). 9% de cryptorchidie chez les poulains de 12 mois (Eriksson S et al 2013, 2015).

Ânes: 30% (Kumi-Diaka J et al 1981)
Fondateur Pas publié

Test ADN

NON

Remarques

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BIBLIOGRAPHIE

Livres

(en) MCKINNON AO et al (Ed.) Equine Reproduction, 2011, Wiley-Blackwell

  • (en) AMMANN RP. Functional Anatomy of the Adult Male. Chapter 95. In McKinnon AO, Squires EL, Vaala WE, Varner DD, edited by (2011). Equine Reproduction. Second Edition, 2011, Wiley-Blackwell, 3132 pages. Pages 867-880
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  • (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) BEARD W. Abnormalities of the Testicles. Chapter 112. In McKinnon AO, Squires EL, Vaala WE, Varner DD, edited by (2011). Equine Reproduction. Second Edition, 2011, Wiley-Blackwell, 3132 pages. Pages 1161-1165
  • (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) ROSER JF. Endocrine–Paracrine–Autocrine Regulation of Reproductive Function in the Stallion. Chapter 99. In McKinnon AO, Squires EL, Vaala WE, Varner DD, edited by (2011). Equine Reproduction. Second Edition, 2011, Wiley-Blackwell, 3132 pages. Pages 996-1014
  • (en) RUSSELL TM, POLLOCK PJ. Cryptorchid Castration. Chapter 158. In McKinnon AO, Squires EL, Vaala WE, Varner DD, edited by (2011). Equine Reproduction. Second Edition, 2011, Wiley-Blackwell, 3132 pages. Pages 1531-1539
  • (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

(de) AURICH Christine, Reproduktionsmedizin beim Pferd: Gynäkologie - Andrologie – Geburtshilfe. Georg Thieme Verlag, 2. Auflage 2008, 

  • ISBN: 9783830441793
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  • (de) AURICH C. (2008). Angeborene Fehlbildungen, Kryptorchismus, Kapitel 15.2.1.1. In Reproduktionsmedizin beim Pferd: Gynäkologie - Andrologie – Geburtshilfe. Georg Thieme Verlag, 2. Auflage, 271-274

(en) CHOWDHARY BP, Equine Genomics, 2013, Wiley-Blackwell

  • ISBN: 978-0-8138-1563-3
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  • Description, contenu, auteurs: WILEY http://eu.wiley.com/WileyCDA/ > Life Sciences > Genetics > Animal Genetics
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Articles scientifiques

2016

(en) GHOSH S, ARNOLD C, WADE C, LEEB T, DISTL O, CHOWDHARY BP, VARNER DD, RAUDSEPP T. (2016). AKR1C genes as candidate loci for equine cryptorchidism. Journal of Equine Veterinary Science, 43:S56-S58

  • DOI: 10.1016/j.jevs.2016.06.008
  • Journal of Equine Veterinary Science http://www.j-evs.com/home
  • Abstract <http://www.j-evs.com/article/S0737-0806(16)30299-4/abstract>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S0737080616302994/pdfft?md5=9ce7f0eaeac7fae0d3871688f2f9af0c&pid=1-s2.0-S0737080616302994-main.pdf>
  • [Consulté: 25.08.2016]

2015

(en) ERIKSSON S, JÄDERKVIST K, DALIN AM, AXELSSON J, LINDGREN G. (2015). Prevalence and genetic parameters for cryptorchidism in Swedish-born Icelandic horses. Livestock Science, Available online 5 July 2015

  • DOI:10.1016/j.livsci.2015.06.022
  • Livestock Science http://www.journals.elsevier.com/livestock-science/
  • Abstract <http://www.sciencedirect.com/science/article/pii/S1871141315003108#authorab00051>
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  • [Consulté: 07.07.2015]

(en) GHOSH S. (2015). Copy Number Variation in Equine Cryptorchidism. Plant and Animal Genome XXIII Conference, January 10-14, 2015, San Diego, CA, USA, #P0333 Powerpoint

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(en) GHOSH S, DAS PJ, JAXTHEIMER J, GRISSOM S, ARNOLD C, VARNER D, CHOWDHARY BP, RAUDSEPP T. (2015). Involvement of CNVs in Equine Cryptorchidism. Plant and Animal Genome XXIII Conference, January 10-14, 2015, San Diego, CA, USA, #P0333

  • Abstract <https://pag.confex.com/pag/xxiii/webprogram/Paper15695.html>
  • [Consulté: 03.02.2015]

(en) HARTMAN R, HAWKINS JF, ADAMS SB, MOORE GE, FESSLER JF. (2015). Cryptorchidectomy in equids: 604 cases (1977–2010). Journal of the American Veterinary Medical Association, 246(7): 777-784

  • DOI: 10.2460/javma.246.7.777
  • Journal of the American Veterinary Medical Association http://avmajournals.avma.org/loi/javma
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(en) MAHMUD MA, ONU JE, SHEHU SA, UMAR MA, BELLO A, DANMAIGORO A. (2015). Cryptorchidism in Mammals: A Review. Global Journal of Animal Scientific Research. 3(1): 128-135

  • Global Journal of Animal Scientific Research http://www.gjasr.com/index.php/GJASR/index
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(en) MURASE H, SAITO S, AMAYA T, SATO F, BALL BA, NAMBO Y. (2015). Anti-Müllerian hormone as an indicator of hemi-castrated unilateral cryptorchid horses. Journal of Equine Science, 26(1): 15–20

  • DOI: 10.1294/jes.26.15
  • Journal of Equine Science https://www.jstage.jst.go.jp/browse/jes
  • Abstract <https://www.jstage.jst.go.jp/article/jes/26/1/26_1502/_article>
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(en) PARKER RA. (2015). What is the best test for cryptorchidism? Equine Veterinary Education, online: 4 MAR 2015

2014

(en) CLAES ANJ. (2014a). Anti-Müllerian Hormone in Stallions and Mares: Physiological Variations, Clinical Applications, and Molecular Aspects. Doctoral Dissertation, University of Kentucky, paper 18

  • University of Kentucky UKnowledge http://uknowledge.uky.edu/ 
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(en) CLAES A, BALL BA, CORBIN CJ, CONLEY AJ. (2014b). Anti-Müllerian Hormone as a diagnostic marker for equine cryptorchidism in three cases with equivocal testosterone concentrations. Journal of Equine Veterinary Science, 34(3): 442-445.

  • DOI: 10.1016/j.jevs.2013.09.001
  • Journal of Equine Veterinary Science http://www.j-evs.com/home
  • Abstract <http://www.j-evs.com/article/S0737-0806%2813%2900585-6/abstract>
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(en) GHOSH S, DAS PJ, ARNOLD C, JAXTHEIMER J, VARNER D, CHOWDHARY BP, RAUDSEPP T. (2014). Contribution of DNA copy number variants to equine cryptorchidism. Journal of Equine Veterinary Science, 34(1): 29

  • DOI: 10.1016/j.jevs.2013.10.015
  • Journal of Equine Veterinary Science http://www.j-evs.com/home
  • Abstract <http://www.j-evs.com/article/S0737-0806%2813%2900649-7/abstract>
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(en) ORTVED KF, STEWART AW, FUBINI SL, HACKETT RP. (2014). Surgical Treatment of 4 Horses for Cryptorchidism Caused by Failure of Regression of the Cranial Suspensory Ligament of the Testis. Veterinary Surgery, 43(3): 266-270

  • DOI: 10.1111/j.1532-950X.2014.12156.x
  • Veterinary Surgery http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1532-950X
  • Abstract <http://onlinelibrary.wiley.com/doi/10.1111/j.1532-950X.2014.12156.x/abstract>
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2013

(en) ALMEIDA J, CONLEY AJ, BALL BA. (2013). Expression of anti‐Müllerian hormone, CDKN1B, connexin 43, androgen receptor and steroidogenic enzymes in the equine cryptorchid testis. Equine veterinary journal, 45(5): 538-545.

(en) CLAES A, BALL BA, ALMEIDA J, CORBIN CJ, CONLEY AJ. (2013). Serum anti-Müllerian hormone concentrations in stallions: Developmental changes, seasonal variation, and differences between intact stallions, cryptorchid stallions, and geldings. Theriogenology, 79(9): 1229-1235

  • DOI: 10.1016/j.theriogenology.2013.03.019
  • Theriogenology http://www.theriojournal.com/home 
  • Abstract <http://www.theriojournal.com/article/S0093-691X%2813%2900119-2/abstract>
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(en) ERIKSSON S, JÄDERKVIST K, DALIN AM, AXELSSON J, LINDGREN G. (2013). Genetic analysis of cryptorchidism in Swedish born Icelandic horses. Book of Abstracts of the EAAP Annual Meeting, Nantes 2013, Session 03, Poster 15, page 129

  • Pdf <http://www.eaap.org/Previous_Annual_Meetings/2013Nantes/Nantes_2013_Abstracts.pdf>
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(en) JÄDERKVIST K. (2013). Genetic study of cryptorchidism in Swedish Icelandic and Standardbred horses. Thesis Uppsala: SLU, Dept. of Animal Breeding and Genetics.

(en) STOUT TAE. (2013). Can and should we do more to reduce the incidence of cryptorchidism? Equine Veterinary Journal, 45(5): 531–532

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.

(de) GRUNERT K. (2012). Kryptorchismus, Hodenwachstum und Hodengrösse beim Islandpferd. Dissertation, Tierärztliche Fakultät der Ludwig-Maximilians-Universität, München, 139 pages

  • Electronic Theses of LMU Munich https://edoc.ub.uni-muenchen.de/
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(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
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(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

(se) ENGSÄLL U. (2011). Testikelstörningar hos hingstar i Sverige. Examensarbete (Sveriges lantbruksuniversitet, Fakulteten för veterinärmedicin och husdjursvetenskap, Veterinärprogrammet), 24 pages

  • SLU University Library http://www.slu.se/en/library/ 
  • Abstract (en) <http://stud.epsilon.slu.se/3242/>
  • Pdf (se) <http://stud.epsilon.slu.se/3242/4/engsall_u_110913.pdf>
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2010

(en) KUNEJ T, OGOREVC J, DOVC P. (2010). Search for cryptorchidism candidate genes: a comparative genetic approach. Abstracts, 9th World Congress on Genetics Applied to Livestock Production (WCGALP), #PP4-132

2009

(en) DIRIBARNE M, VAIMAN A, PÉCHAYRE M, PAILHOUX E, MATA X, GUÉRIN G, CHAFFAUX S. (2009). Polymorphism analysis of microsatellites associated with seven candidate genes for equine cryptorchidism. Journal of Equine Veterinary Science, 29(1): 37-41.

  • DOI: 10.1016/j.jevs.2008.11.003
  • Journal of Equine Veterinary Science http://www.j-evs.com/home
  • Abstract <http://www.j-evs.com/article/S0737-0806%2808%2900374-2/abstract>
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2008

(en) BALL BA, CONLEY AJ, GRUNDY SA, SABEUR K, LIU IK. (2008). Expression of anti-Mullerian hormone (AMH) in the equine testis. Theriogenology, 69(5): 624–631

  • DOI: 10.1016/j.theriogenology.2007.11.009
  • Theriogenology http://www.theriojournal.com/home
  • Abstract <http://www.theriojournal.com/article/S0093-691X%2807%2900676-0/abstract>
  • Pdf <http://www.sciencedirect.com/science/article/pii/S0093691X07006760/pdfft?md5=e878ef00819ddecfe2dd6db8a65eb173&pid=1-s2.0-S0093691X07006760-main.pdf>
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(en) BRITO LF, SERTICH PL, DURKIN K, CHOWDHARY BP, TURNER RM, GREENE LM, MCDONNELL S. (2008). Autosomic 27 trisomy in a standardbred colt. Journal of Equine Veterinary Science, 28(7): 431-436

  • DOI: 10.1016/j.jevs.2008.06.003
  • Journal of Equine Veterinary Science http://www.sciencedirect.com/science/journal/07370806
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  • Pdf <http://research.vet.upenn.edu/Portals/49/BRITO%20Trisomy%20JEVS%202008.pdf>
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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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2004

(en) BASRUR PK, BASRUR VR. (2004). Genes in genital malformations and male reproductive health. Animal Reproduction, 1(1): 64-85

<2004

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