Definition

In individuals with a 46,XY karyotype it presents with undermasculinization of the external genitalia, abnormal secondary sexual development at puberty and infertility; it results from a reduced capacity of the body to respond to androgens. The clinical spectrum is divided into three groups: Complete AIS (typical female external genital appearance), Partial AIS (ambiguous genital development) and Mild AIS (typical male appearance with reduced secondary sexual characteristics and/or infertility).

Gene/region analyzed

AR - Exon 1 - CAG Repeat Number

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Caused by loss-of-function variants in the AR gene at Xq12; inherited in an X-linked recessive manner. Affected 46,XY individuals are almost always infertile; carrier (46,XX) women have a 50% risk of transmission in each pregnancy.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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