What it is
It is caused by changes in the androgen receptor gene on the X chromosome. People with complete AIS usually look female at birth and are often diagnosed at puberty when periods do not start.
Care is provided by specialist teams and may include hormone treatment, decisions about the testes, psychological support and genetic counselling for the family.
Common signs
- Periods not starting at puberty (complete AIS)
- A lump in the groin that turns out to be a testis
- Genitals that look different from typical at birth (partial AIS)
How it is usually diagnosed
- Chromosome tests (karyotype) and hormone blood tests
- Genetic testing of the androgen receptor gene
- Pelvic ultrasound or MRI
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Genetic and hormone test results
- Imaging reports
- Letters from the specialist team and any operation notes
- Bone density scans if on hormone treatment
Questions to ask your doctor
- What type of AIS is it, and what does that mean for health later on?
- What are the options and timing for any treatment?
- What support is available for us as a family?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- There are no emergency signs specific to AIS; seek urgent care for sudden severe groin or belly pain
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.