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
Artigo
em Espanhol
| 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:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Síndrome de Resistência a Andrógenos
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Espanhol
Revista:
Rev. méd. Maule
Assunto da revista:
Medicina
Ano de publicação:
2019
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Hospital Regional de Talca/CL
/
Universidad Católica del Maule/CL
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