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Rev. méd. Maule ; 34(2): 18-22, dic. 2019. ilus
Artículo en Español | LILACS | ID: biblio-1371198

RESUMEN

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.


Asunto(s)
Humanos , Femenino , Lactante , Síndrome de Resistencia Androgénica/genética , Síndrome de Resistencia Androgénica/tratamiento farmacológico , Receptores Androgénicos , Ultrasonografía , Hernia Inguinal/cirugía , Antagonistas de Andrógenos/uso terapéutico , Mutación
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