Pseudo-hermafroditismo masculino em um equino
DOI:
https://doi.org/10.22456/1679-9216.85443Abstract
Background: Intersexuality is considered an alteration in the animal development that opposes the characteristics determined by the genetic sex, resulting in an individual with characteristic features of both sexes. The objective of this work is to report a case of male pseudohermaphroditism of a Criollo breed horse referred to the Hospital de Clínicas Veterinárias (HCV) of the Universidade Federal de Pelotas, RS, Brazil. We gather information on the intersexuality diagnostics highlighting cytogenetics as an additional tool to diagnosis.
Case: A Criollo breed horse was attended at the HCV with the main complaint of morphological anomaly of the external genitalia. The animal presented female external features, characterized by mammal glands and female genitalia. The horse also showed a rudimentary penis-like structure, caudally oriented shrouded by a cutaneous crease similar to a vulva and presented male behavior. The external genitalia was examined but the vaginoscope could not be inserted since the crease ended in a sac, with no openings. Rectal palpation and transrectal ultrasound could not reveal the presence of female gonads. Urethral ultrasound revealed the pelvic urethra and the openings of the male accessory glands. The equine was subjected to hormonal challenge with human chorionic gonadotropin (hCG). First sample presented a testosterone concentration of 20 ng/dL; second sample, on the other hand, presented a testosterone concentration of 60 ng/dL after the stimulus. The Polimerase Chain Reaction technique revealed absence of gene SRY (sex determiningregion Y). The cytogenetic study was conducted with the lymphocytes obtained from peripherical venous blood. From this, we could verify that the patient was genetically male with karyotype 64 XY. Necropsy showed presence of prepuce and rudimentary penis at the anatomical site of the vulva without scrotum. In the pelvic cavity, a structure similar to a uterine body was observed, with the horns ending at the ovaries anatomical sites, where a structure similar to testicles was found with underdeveloped seminiferous tubules lacking production of spermatozoa and rudimentary epididymis with epididymal ducts coated with primitive stereocilia.
Discussion: True hermaphroditism is defined by the presence of ovarian and testicular tissues in the same individual, as separate gonads or combined, as ovotestis. On the other hand, the pseudo-hermaphrodite is an individual with only one gonad, and external genitalia and secondary characteristics of the opposite sex. Urethral endoscopy allowed the visualization of the pelvic urethra and the male sexual glands openings. Following stimulation with hCG, testosterone level increased in 40 ng/dL, evidencing the presence of testicular tissue. Sexual differentiation is determined by the presence or absence of the Y chromosome and by the expression of gene SRY. The animal studied here had karyotype 64 XY and lacked gene SRY, characterizing a condition where testicular differentiation occurred in the absence of gene SRY. It is possible to conclude that clinical evaluation, complementary exams and hormonal analysis allowed the identification of intersexuality. However, only molecular, cytogenetic and histological analyses allowed the definitive diagnosis of male pseudohermaphrodite.
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References
Basrur P.K. & Basrur V.R. 2004. Genes in genital malformations and male reproductive health. Animal Reproduction. 4(1): 64-85.
Basrur P.K. & Stranzinger G. 2008. Veterinary cytogenetics: past and perspective. Cytogenetic and Genome Research. 120: 11-25.
Brochure. 2010. Castration: From Stalion to Gelding. Proceedings of the American Association of Equine Practitioners.
[Fonte:<http://www.aaep.org/info/horse-health?publication=705>]. [Accessed online April 2016].
Bugno M., Słota E. & Kościelny M. 2007. Karyotype evaluation among young horse populations in Poland. Schweizer Archiv fur Tierheilkunde. 149(5): 227-232.
Bugno M., Zabek T., Golonka P., Pieńkowska S.A., Schelling C. & Słota E. 2008. A case of an intersex horse with 63,X/64, XX/65, XX, del karyotype. (New York, USA). Cytogenetic and Genome Research. 120: 123-126.
Campbell M. 2004. A case of male pseudohermaphroditism in a horse: Senior seminar paper. (Ithaca, NY). Cornell University College of Veterinary Medicine.10p.
Corcini C.D., Leon P.M.M., Rambo G., Santos E.C.S., Varela Filho J.A.S., Moreira F., Fernandes C.G. & Lucia Jr. T. 2009. Um caso de pseudo-hermafrodita masculino em um suíno. Acta Veterinaria Brasilica. 3(3): 163-165.
Coelho E.G.A. & Oliveira D.A.A. 2008. Testes genéticos na eqüídeo cultura. Revista Brasileira de Zootecnia. 37: 202-205.
Cunha J.L., Soardi F.C., Bernardi R.D., Oliveira L.E.C., Benedetti C.E., Guerra Filho J.G., Guerra M.A.T. & Mello M.P. 2011. The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development. Brazilian Journal of Medical and Biological Research. 44(4): 361-365.
Daminiani D., Dichtchekenian V. & Setian N. 2000. O enigma da determinação gonadal - O que existe além do cromossomo Y? Arquivos Brasileiros de Endocrinologia & Metabologia.
: 248-256.
Delfini A., Toniollo G.H. & Canola J.C. 2007. Pseudo-hermafroditismo masculino em cão da raça American Pit-Bull
Terrier. Ciência Animal Brasileira. 8: 333-338.
Di Meo G.P., Neglia G., Perucatti A., Genualdo V., Iannuzzi A., Crocco D., Incarnato D., Romano G., Parma P. & Iannuzzi L. 2009. Numerical sex chromosome aberrations and abnormal sex development in horse and sheep. Sexual Development.
(6): 329-332.
Durval D., Nuvarte S., Hílton K., Manna D. & Vaê D. 2001. Genitália Ambígua: Diagnóstico Diferencial e Conduta. Arquivos Brasileiros de Endocrinologia & Metabologia. 45(1): 37-47.
Feldman E.C. & Nelson R.W. 2004. Infertility, associated breeding disorders, and disorders of sexual development. In: Feldman E.C. & Nelson R.W. (Eds).Canine and Feline Endocrinology and Reproduction. 3rd edn. Philadelphia: WB Saunders, pp.893-898.
Grunert E., Birgel E.H., Vale W.G. & Birgel Junior E.H. 2005. Patologia e clínica da reprodução dos animais domésticos-Ginecologia. 2.ed. São Paulo: Varela, 551p.
Han S.H., Yang B.C., Ko M.S., Oh H.S. & Lee S.S. 2010. Length difference between equine ZFX and ZFY genes and
its application for molecular sex determination. Journal of Assisted Reproduction and Genetics. 27: 725-728.
Howden K.J. 2004. Androgen insensitivity syndrome in a Thoroughbred mare (64, XY - testicular feminization). Canadian Veterinary Journal. 45: 501-503.
Lear T.L. & McGee R.B. 2012. Disorders of sexual development in the domestic horse, Equus caballus. Sexual Development.
(1-3): 61-71.
Lyle S.K. 2007. Disorders of sexual development in the dog and cat. Theriogenology. 68: 338-343.
McCue P.M. & Ferris A.R. 2016. Formulary and Protocols in Equine Reproduction. Fort Collins: Colorado State University, 18p.
McKinnon A., Samper O., Juan C. & Jonathan F. 1993. Current Therapy in Reproduction Equine. 2nd edn. Louis: Elsevier Saunders, pp.1344-1360
Meinecke B., Drögemüller C., Kuiper H., Bürstel D., Wohlsein P., Ebeling S., Wehrend A. & Meinecke T.S. 2007. A diploid-triploid (60, XX/90, XXY) intersex in a Holstein heifer. Sexual Development. 1: 59-65.
Nascimento E.F. & Santos R.L. 2003. Patologia da reprodução dos animais domésticos. 2.ed. Rio de Janeiro: Guanabara Koogan, pp.15-89.
Peyrás S., Anaya G., Bugno P.M., Pawlina K., Membrillo A., Valera M. & Moreno M.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
Sarafoglou K. & Ostrer H. 2000. Familial sex reversal: a review. Journal of Clinical Endocrinology and Metabolism. 85: 483-493.
Schlafer D.H. & Miller R.B. 2007. Pathology of the genital system of the non gravid female. In: Grant M.M., Jubb K. & Palmer’s (Eds). Pathology of Domestic Animals. 5th edn. Edinburgh: Saunders Elsevier, pp.431-444.
Sobestiansky J. & Carvalho L.F.O.S. 2007. Malformações. In: Sobestiansky J. & Barcellos D. (Eds). Doenças dos suínos. Goiânia: Cânone, pp.536-537.
Speirs V.C. 1999. Sistema Reprodutor do Macho. In: Exame clínico de equinos. Porto Alegre: Artmed, pp.233-236.
Ticianelli J.S., Oliveira B.M.M., Zogno M.A., Arruda R.P. & Celeghini. E.C.C. 2011. Intersexo e outras anomalias do desenvolvimento do aparelho reprodutor nos animais domésticos e o auxílio da citogenética para o diagnóstico. Revista Brasileira de Reprodução Animal. 35(1): 26-32.
Villagómez D.A.F., Lear T.L., Chenier T., Lee S., McGee R.B., Cahill J.R., Foster A., 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.
Waldridge B. 2010. Disorders of the Urinary System. In. Reed S.M., Baylyand W.M. & Sellon D.C. (Eds). Equine Internal Medicine. 3rd edn. Saint Louis: Saunders Elsevier, pp.1221-1224.
Zenteno-Ruiz J.C., Kofman A. S. & Méndez J.P. 2001. 46,XX sex reversal. Archives of Medical Research. 32: 559-566.
Zogno M.A., Barnabe V.H. & Barnabe R.C. 2000. Animal cytogenetics: some modifications in the peripheral blood
lymphocyte culture technique. Brazilian Journal of Morphological Sciences.17: 23-25.
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