[Complete androgen insensitivity syndrome: diagnosis and multidisciplinary management].

ABSTRACT:

Background

Complete androgen insensitivity syndrome (CAIS) is a sexual differentiation disorder, caused by a defect in the androgen receptor gene (AR; OMIM# 313700). It is characterized by the resistance of target tissues to the action of testosterone, which prevents normal male genital development. The objective is to describe a family case of CAIS and highlight the importance of multidisciplinary medical management and early diagnosis of this syndrome.

Clinical case

We present two cases of SICA in a Mexican family. Case 1: 18-year-old female patient with primary amenorrhea and a history of surgery at an early age, without performing gonadectomy. Case 2: 11-year-old female patient who, due to the history of her sister, underwent surgery at that age. In both patients, absenc

SUBMITTER: Gallardo-Duran KG 

PROVIDER: S-EPMC10399756 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature