Overview
People with androgen insensitivity syndrome have XY chromosomes, but their bodies respond partly or not at all to male hormones. They may appear female, male or have features of both.
Signs
- Female appearance with no periods at puberty (complete form)
- Undescended testes, sometimes found as a lump in the groin
- Ambiguous genitals at birth (partial form)
- Little or no pubic and underarm hair
Causes and risk factors
It is caused by changes in the androgen receptor gene on the X chromosome and is usually inherited from the mother.
Diagnosis
Diagnosis involves examination, hormone blood tests, chromosome testing, genetic testing and imaging of the pelvis.
Treatment
Care is provided by a specialist team and may include hormone therapy, surgery in some cases, and psychological support. Decisions are made carefully with the family and, when possible, the individual.
When to see a doctor
See a doctor if a girl has not started periods by age 15, or if a baby is born with genitals that look different from usual.
This information is for general education and does not replace advice from a qualified doctor. For a medical emergency, call +92-51-8446666 or go to the nearest emergency department.