Androgen-Insensitivity Syndrome

Overview

A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Androgen-Insensitivity Syndrome

Topic type

Condition

Category

Urology / Fertility

MeSH classification

C12.050.351.875.253.096.500|C12.200.706.316.096.500|C12.800.316.096.500|C16.131.939.316.096.500|C16.320.322.061|C19.391.119.096.500

Preparing for an appointment about Androgen-Insensitivity Syndrome

If you are speaking with a healthcare professional about Androgen-Insensitivity Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Androgen-Insensitivity Syndrome

EuroCareFinder helps patients explore clinics and healthcare providers across Europe. Some topics link directly to services offered by clinics, while others may be connected through related specialties, treatments or procedures.

Related topics

Explore healthcare providers

Use EuroCareFinder to browse clinics by country, specialty and available services.