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
Article
Dans Espagnol
| 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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Syndrome d'insensibilité aux androgènes
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Bébé
langue:
Espagnol
Texte intégral:
Rev. méd. Maule
Thème du journal:
Médicament
Année:
2019
Type:
Article
Pays d'affiliation:
Chili
Institution/Pays d'affiliation:
Hospital Regional de Talca/CL
/
Universidad Católica del Maule/CL
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