Síndrome de Insensibilidad Completa a Andrógenos (SICA): reporte de un caso clínico / Complete Androgen Insensitivity Syndrome (CAIS): report of a clinical case
Rev. méd. Maule
;
34(2): 18-22, dic. 2019. ilus
Artículo
en Español
| LILACS
| ID: biblio-1371198
ABSTRACT
INTRODUCTION:
Complete Androgen Insensitivity Syndrome (CAIS) is a X-linked recessive disorder characterized by a complete resistance of the Androgen Receptor (AR) to androgens. As a result, affected individuals present complete female external genitalia, but are genetically male with a 46, XY karyotype. The typical presentation for this syndrome is either inguinal swellings in a new born or infant, or primary amenorrhoea in an adolescent. CAIS is commonly diagnosed in one of these clinical scenarios, although recently prenatal diagnosis has been reported. We present a case of a phenotypically female infant with an inguinal swelling, which was biopsied and exposed as testicular tissue, doing the diagnosis of CAIS. A review of the literature on this disorder is made.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Síndrome de Resistencia Androgénica
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Lactante
Idioma:
Español
Revista:
Rev. méd. Maule
Asunto de la revista:
Medicina
Año:
2019
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Hospital Regional de Talca/CL
/
Universidad Católica del Maule/CL
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