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Case Report
wei chen
Sun Yat-sen University First Affiliated Hospital
Corresponding Author
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This work is licensed under a CC BY 4.0 License. Read Full License
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 phenotype with 46 XY. Anatomically, individuals with AIS lack both a uterus and ovaries.
Case presentation: 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.
Conclusions: Individuals with CAIS need appropriate care from doctors and support from their family. The diagnosis, treatment, and management of CAIS also requires a multidisciplinary approach.
Keywords
AR gene, complete androgen insensitivity syndrome, case report ,46XY female phenotype
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This is a preprint. It has not completed peer review.
Case Report
wei chen
Sun Yat-sen University First Affiliated Hospital
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 12 Mar, 2020
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Molecular Genetics
License:
This work is licensed under a CC BY 4.0 License. Read Full License
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 phenotype with 46 XY. Anatomically, individuals with AIS lack both a uterus and ovaries.
Case presentation: 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.
Conclusions: Individuals with CAIS need appropriate care from doctors and support from their family. The diagnosis, treatment, and management of CAIS also requires a multidisciplinary approach.
Figure 1
Figure 2
Figure 3
Figure 4
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