Síndrome de Swyer y disgerminoma. Caso clínico

[Swyer syndrome and dysgerminoma. Clinical case]

Kayra Sánchez1, Jorge Lasso de la Vega1

1. Instituto Oncológico Nacional. Panamá, Rep. de Panamá..

Publicado: 2022-05-16

Descargas

Resumen

El síndrome de Swyer es una disgenesia gonadal pura con fenotipo femenino y cariotipo XY. Las pacientes presentan unas gónadas disgenéticas y no funcionantes. El riesgo de neoplasia gonadal es alto, entre un 25 y un 30%. El gonadoblastoma y el disgerminoma son los tumores más frecuentes. Presentamos el caso de una femenina de 18 años con historia amenorrea primaria, con masa anexial derecha compleja asociada a elevación de alfafetoproteína en sangre. Se le realiza salpingooforectomía, en donde se encontró masa de 15 cm dependiente del ovario derecho y estría fibrótica en ovario izquierdo. La revisión de la pieza quirúrgica reportó un tumor germinal mixto. Cariotipo de la paciente XY. Hallazgos consistentes con Síndrome de Swyer.


Abstract

Swyer syndrome is a pure gonadal dysgenesis with female phenotype and XY karyotype. Patients present with dysgenetic and non-functioning gonads. The risk of gonadal neoplasia is high, between 25 and 30%. Gonadoblastoma and dysgerminoma are the most frequent tumors. We present the case of an 18-year-old female with a history of primary amenorrhea, with a complex right adnexal mass associated with elevated alpha-fetoprotein in the blood. She underwent salpingo-oophorectomy, where a 15 cm mass was found depending on the right ovary and fibrotic stria in the left ovary. The revision of the surgical specimen reported a mixed germinal tumor. Karyotype of the patient XY. Findings consistent with Swyer's syndrome.

Citas

[1] Swyer GIM. Male pseudohermaphroditism: A hitherto undescribed form. Br Med J. 1955;2(4941):709–11.

[2] 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. 1998;49(1):41–5.

[3] Wolf U. The molecular genetics of human sex determination. J Mol Med. 1995;73(7):325–31.

[4] Culha C, Ozkaya M, Serter R, Sahin I, Aydin B, Aral Y. Swyer’s syndrome: In a Fifty-Year-Old Female. J Obstet Gynecol India. 2012;62(5):571–4.

[5] Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. Isolated 46, XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab. 2007;92(8):3305–13.

[6] Scherer G, Held M, Erdel M, Meschede, Horst J, Lesniewicz R, et al. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations. Cytogenet Cell Genet. 1998;80(1–4):188–92.

[7] Canto P, Söderlund D, Reyes E, Méndez JP. Mutations in the Desert hedgehog (DHH) gene in patients with 46, XY complete pure gonadal dysgenesis. J Clin Endocrinol Metab. 2004;89(9):4480–3.

[8] 00006254-199402000-00026.pdf.

[9] Salazar AI, Palomeque F, Pascual E, Porras V. Disgerminoma y síndrome de Swyer. Progresos en Obstet y Ginecol [Internet]. 2006;49(3):154–8. Available from: http://dx.doi.org/10.1016/S0304-5013(06)72586-9

[10] gyno.1993.1201.pdf.

[11] Uehara S, Funato T, Yaegashi N, Suziki H, Sato J, Sasaki T, et al. SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients. Cancer Genet Cytogenet. 1999;113(1):78–84.

×