Disgenesia gonadal pura: Síndrome de Swyer-James. Presentación de un caso y revisión de la literatura
DOI:
https://doi.org/10.18597/rcog.1025Palabras clave:
Síndrome de Swyer, disgenesia gonadal, amenorrea primariaResumen
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.
Biografía del autor/a
Juan Diego Villegas
Residente III año HlLVS
Rodrigo Cuevas M.
Instructor UICRH-HILVS
Germán Barón
Jefe UlCRH-HILVS
Referencias bibliográficas
Swyer GI. Make Pseudihermafroditism: A hitherto undescribed form. B Med .J 1955; 2: 709.
Sperof L et al. Embriologic development of the genital tract en Clinical gynecologycal endocrinology. Sexta edición: 110.
Steínberger E, Odell WD. Genetics, anatomy, fetal endocrinology en DeGroot's textbook of Endocrinology Williams and Wilkins 1985; 1801.
Smith LH, Samy AH et al. Fisiopatología de Smith-Thier. Segunda edición . Editorial panamericana 1989; 450.
Lewin B. Genes V. Oxford University Press. 5th edition. 1994; 1110.
Wachtel SS. The genetics of intersexuality: clinical and theoretic perspectives. Obs Gyn. 1979; 54(6): 671.
Hawkins R. Testis determining factor and Y-linked sex reversal. Current Opinion in Genetics and Development. 1991; 1: 30-33.
Pritchard CA, Goodfellow PJ. Mapping the limits of the human pseudoautosomal region and a candidate for the male determining gene. Nature 1987; 328: 273 .
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.
Wolf U. The molecular genetics of human sex determination. J mol Med J 995; 73: 325.
Schafer AJ. Sex determination and its pathology in man. Adv Genet 1995; 33: 275.
Lamb DJ. Genes involved in testicular development and function . World J Urol 1995; 13: 277.
Palmer MS. Sinclair AH. Genetic evidence that ZFY is not the testis determining factor. Nature 1989; 342: 937.
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 .
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