Complete Androgen Insensitivity Syndrome: A Case Report and Literature Review

Abstract

liangmin fu, penju li, jiefei xiao, junhang luo and wei chen

Background: Androgen insensitivity syndrome (AIS) is a rare disease caused by mutations in the AR gene. This results in resistance to the actions of androgen as well as a female karyotype with 46 XY. Anatomically, individuals with AIS lack both a uterus and ovaries.

Patients and clinical data: In this case report, we detail a 32-year-old patient with complete AIS (CAIS). This female patient with 46 XY genotype came to our hospital seeking surgical removal of bilateral testis. The subsequent medical history, clinical examination, imaging, and endocrine outcomes from this patient were collected and are presented here.

Conclusion: Individuals with CAIS need appropriate care from doctors and support from their families. The diagnosis, treatment, and management of CAIS also require a multidisciplinary approach.

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