Disgerminoma y síndrome de Swyer / Dysgerminoma and Swyer's syndrome
Prog. obstet. ginecol. (Ed. impr.)
; 49(3): 154-158, mar. 2006. ilus
Article
in Es
| IBECS
| ID: ibc-054211
Responsible library:
ES1.1
Localization: ES1.1 - BNCS
RESUMEN
El síndrome de Swyer es una disgenesia gonadal pura, con cariotipo 46XY, fenotipo femenino normal, y ausencia completa de tejido gonadal funcionante, que está representado por unas cintillas gonadales rudimentarias, bilaterales, no funcionantes, compuestas por tejido fibroso, en presencia de genitales internos femeninos normales. La forma de presentación clínica más frecuente es amenorrea primaria. En un 20 por ciento existe mutación o deleción del gen SRY. En el 80 por ciento, el SRY es aparentemente normal. El riesgo de neoplasia gonadal es alto; está indicado practicar gonadectomía profiláctica preferentemente por laparoscopia. El gonadoblastoma y el disgerminoma son las neoplasias más comúnmente asociadas
ABSTRACT
Swyer syndrome is a pure gonadal dysgenesis with a 46XY karyotype, normal female phenotype, and complete lack of functioning gonadal tissue, which is represented by bilateral, nonfunctioning, rudimentary streak gonads composed of fibrous tissue, with normal female internal genitalia. They present most often with primary amenorrhea. To date, 20 percents of these are explained by a mutation or a deletion in SRY. In 80 percents, SRY is apparently normal. The risk of gonadal neoplasia is high, dictating early prophylactic removal of these dysgenetic gonads. Laparoscopic surgery is recommended. Gonadoblastoma and dysgerminoma are the most frequently reported malignancies
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Dysgerminoma
/
Gonadal Dysgenesis, 46,XY
Type of study:
Etiology study
Limits:
Adolescent
/
Female
/
Humans
Language:
Spanish
Journal:
Prog. obstet. ginecol. (Ed. impr.)
Year:
2006
Document type:
Article
Institution/Affiliation country:
Hospital Juan Ramón Jiménez/España