Androgen Insensitivity Syndrome Overview
Androgen Insensitivity Syndrome (AIS) is a rare genetic condition that affects sexual development before birth and during puberty. People with AIS are genetically male (46,XY chromosomes). However, their bodies are partially or completely unable to respond to androgens — the male sex hormones like testosterone.
Late Discoery
As a result, individuals with AIS may have female external genitalia, despite having male chromosomes and internal testes. In many cases, doctors do not diagnose the condition until puberty. When menstruation does not begin, or when tests for an inguinal hernia in infancy reveal unexpected internal anatomy.
AIS is classified into two main forms:
- Complete AIS (CAIS): The body does not respond to androgens at all. Therefore, leading to female external genitalia and absent or minimal male development.
- Partial AIS (PAIS): The body responds to androgens to some degree. Therefore, resulting in a range of genital appearances from predominantly male to predominantly female.
AIS is not a disease, but a difference in sex development (DSD). With appropriate care and support, individuals with AIS can lead full, healthy lives.
In the next section, we’ll explore the genetic causes of AIS and how doctors pass it down in families.
👉 [Next: Causes and Genetics of AIS]
Martin Herbst Physiotherapist Pretoria East
Complications of Androgen Insensitivity Syndrome
Complications of Androgen Insensitivity Syndrome
