Overview
Androgen insensitivity syndrome (AIS) is a rare X-linked recessive condition leading to end-organ resistance of testosterone leading to a variable ability to respond to testosterone. This can cause genotypically male children to have a female phenotype.
Presentation
Complete androgen insensitivity syndrome (CAIS)
- Primary amenorrhoea
- Bilateral groin swellings – due to undescended testes
- The vagina is blind-ending and there is no uterus
Partial androgen insensitivity syndrome (PAIS)
The features of PAIS can vary from very few male characteristics with female genitalia or male genitalia.
Mild androgen insensitivity syndrome (MAIS)
Patients are male and may have:
- Micropenis
- Gynaecomastia
- Infertility
Diagnosis
The diagnosis of AIS involves:
- Sex hormone testing
- Sex chromosome testing
- Genetic testing
- Ultrasound scans
Management
Overview
The patient should be raised as female or whichever gender identity they would like. A bilateral orchidectomy should also be performed as undescended testes carry an increased risk of testicular cancer.
Other treatments involve oestrogen therapy and surgery such as vaginal surgery and male breast reduction.
