Disgenesia gonadal pura: Síndrome de Swyer-James. Presentación de un caso y revisión de la literatura

  • Juan Diego Villegas
  • Rodrigo Cuevas M.
  • Germán Barón

Resumen

El síndrome de Swyer-James es un desorden de los cromosomas sexuales y la diferenciación sexual caracterizado por una disgenesia gonadal pura 46 XY en un individuo fenotípicamente femenino con amenorrea primaria. El presente artículo pretende reportar un caso diagnosticado y manejado en la Unidad de Investigación clínica en Reproducción Humana (UICRH) del Hospital Infantil Universitario Lorencita Villegas de Santos, además de revisar la literatura reciente acerca de este trastorno poco frecuente.

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Biografía del autor/a

Juan Diego Villegas

Residente III año HlLVS

Rodrigo Cuevas M.

Instructor UICRH-HILVS

Germán Barón

Jefe UlCRH-HILVS

Referencias

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Tho SP, LaymanLC et al. Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locun in most subjects with gonadal dysgenesis caused by Y aneuplody. Am J Obstet Gynecol 1992; 167: 1794.

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Behzadian MA, Tho S et al. The presence of the testicular determining sequence, SRY, in 46XY females with gonadal dysgenesis. Am J Obstet Gynecol 1991; 165: 1887

Ferguson-Smith MA. Gens on the X and Y chromosomes controlling sex. BMJ. 1988; 297: 635.

Langman J . Desarrollo del aparato urogenital en Embriología médica. Cuarta edición. Editorial Panamericana 1989; 235.

Rock J. Surgery for anomalies of the müllerian ducts en Te Linde's operative Gynecology. Séptima edición: 603.

Markham SM, Waterhouse T. Structural anomalies of the reproductive tract. Curr Opin Obstet Gynecol. 1992; 4(6): 867.

Forstner R, Hricak H. Congenital malformations of uterus and vagina. Radiologe. 1994; 34(7): 397.

Kim HR, Laufer MR. Developmental abnormalities of the femmale reproductive tract. Curr Opin Obstet Gynecol. 1994; 6(6): 518.

Guidozzi F, Ball Jet al. 46 XY pure gonadal dysgenesis (Swyer-james syndrome)- Y or Y not'? : A review.

Hines RS. Tho SP. A novel mutation in the sex determining Region on Y (SRY) Gene as etiology of familial Swyer Syndrome. Fifty second anual meeting of the American Society for reproductive medicine. O 086. Nov 1996.

Wilson E, Vuitch Fetal. Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. Obstet Gynecol 1992; 79: 842.

Ramani P, Yeung CK et al. Testicular intratubular germ cell neoplasia in children and adolescents with intersex. Am J Surg Pathol 1993; 17: 1124.

Parker M, Barnhill D et al. Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. Obstet Gynecol 1992; 80: 567 .

Berta P. Hawkins JR. Genetic evidence equating SRY and the testis determining factor. Nature 1990; 348: 448.

Behzadian MA, Tho S et al. The presence of the testicular determining sequence, SRY, in 46XY females with gonadal dysgenesis. Am J Obstet Gynecol 1991; 165: 1887

Ferguson-Smith MA. Gens on the X and Y chromosomes controlling sex. BMJ. 1988; 297: 635.

Langman J . Desarrollo del aparato urogenital en Embriología médica. Cuarta edición. Editorial Panamericana 1989; 235.

Rock J. Surgery for anomalies of the müllerian ducts en Te Linde's operative Gynecology. Séptima edición: 603.

Markham SM, Waterhouse T. Structural anomalies of the reproductive tract. Curr Opin Obstet Gynecol. 1992; 4(6): 867.

Forstner R, Hricak H. Congenital malformations of uterus and vagina. Radiologe. 1994; 34(7): 397.

Kim HR, Laufer MR. Developmental abnormalities of the femmale reproductive tract. Curr Opin Obstet Gynecol. 1994; 6(6): 518.

Guidozzi F, Ball J et al 46 XY pure gonadal dysgenesis (Swyer-james syndrome)- Y or Y not'? : A review.

Hines RS. Tho SP. A novel mutation in the sex determining Region on Y (SRY) Gene as etiology of familial Swyer Syndrome. Fifty second anual meeting of the American Society for reproductive medicine. O 086. Nov 1996.

Wilson E, Vuitch Fetal. Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. Obstet Gynecol 1992; 79: 842.

Ramani P, Yeung CK et al. Testicular intratubular germ cellneoplasia in children and adolescents with intersex. Am J Surg Pathol 1993; 17: 1124.

Parker M, Barnhill D et al. Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. Obstet Gynecol 1992; 80: 567 .

Publicado
1998-03-31
Cómo citar
1.
Villegas JD, Cuevas M. R, Barón G. Disgenesia gonadal pura: Síndrome de Swyer-James. Presentación de un caso y revisión de la literatura. Rev. Colomb. Obstet. Ginecol. [Internet]. 31 de marzo de 1998 [citado 29 de enero de 2020];49(1):41-5. Disponible en: https://revista.fecolsog.org/index.php/rcog/article/view/1025
Sección
Caso Clínico