Diagnosis of Androgen Insensitivity Syndrome
Diagnosing AIS can happen at different life stages — infancy, childhood, or adolescence — depending on the form and presentation. During the diagnosis of androgen insensitivity syndrome, it is found that many cases of complete AIS are only discovered during puberty when menstruation does not begin.
Key Triggers for Diagnosis
- CAIS
- Baby appears female at birth, but has inguinal hernias or undescended testes
- No menstrual period by age 14–16
- Absent uterus or shortened vagina seen on imaging
- PAIS
- Ambiguous genitalia at birth
- Small penis, undescended testes, or hypospadias (urethra opening not at the tip of the penis)
- MAIS
- Normal male genitalia but issues like infertility or mild breast development
Diagnostic Tests
- Hormone blood tests – Show high levels of testosterone that the body is not responding to
- Pelvic ultrasound or MRI – To check for uterus, ovaries, or testes
- Karyotype testing – Confirms 46,XY male chromosomes
- Genetic testing – Identifies mutations in the AR gene
Differential Diagnosis
AIS must be distinguished from other intersex or DSD conditions such as:
- Swyer syndrome
- 5-alpha-reductase deficiency
- Congenital adrenal hyperplasia
Early diagnosis is essential to provide appropriate medical and psychological support for the individual and their family.
Let’s now look at the treatment and long-term care options for AIS.
👉 [Next: Treatment for Androgen Insensitivity Syndrome]
Martin Herbst Physiotherapist Pretoria East
