Androgen Insensitivity Syndrome

Exam Cram

• Androgen insensitivity syndrome is an endocrine intersex syndrome 

• Chromosomes: XY

• Genitalia: externally female (breasts, vulva/vagina), internally male (testis)

• Appearance and identification: female

Outline

Background

• Pathophysiology: genetically they are male but their body doesn't recognise the testosterone their testicles produce giving a female apperance

Assessment

Presentation

• 18F primary amenorrheoa

• Infertility

Examination

• Globally 'appear' female

• Genitalia

  • Internal: male- testes

  • External: female- breast, vulva/ vagina

  • Secondary: nil pubic/ auxillary hair

Investigations

• Height: tall

• Chromosones: XY

• Testosterone: raised

Diagnosis

Diagnostic criteria: clinical on characteristics above

Management

This condition is a syndrome (collection of symptoms) and isn't strictly a disease- where is the problem? Management centers around the beliefs of the individual with respect to the social norms they live within. 

References and Resources

1. https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/

2. Gottlieb B, Trifiro MA. Androgen Insensitivity Syndrome. 1999 Mar 24 [Updated 2017 May 11]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1429/

Written in 2025