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Androgen insensitivity syndrome
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Androgen insensitivity syndrome is a difference of sex development. It occurs in people whose karyotype, meaning the set of chromosomes in their cells, is 46,XY, and whose cells and tissues cannot respond to androgens, the male sex hormones, testosterone among them.
The problem is not in the hormone, it is in what is supposed to receive it. There is a protein called the androgen receptor, and the AR gene holds the instructions for making it. When that gene carries a variant, also called a mutation, the receptor does not bind testosterone well and does not pass the signal along to the other genes. The message arrives intact, but the lock does not recognize the key.
And it is not one single thing. There are three forms, complete, partial and mild, depending on how much the tissues are able to respond. That is why the presentations are a spectrum and not a single picture.
In brief
Androgen insensitivity syndrome is a difference of sex development in people with a 46,XY karyotype whose androgen receptor does not work properly.
It is caused by variants in the AR gene, which leave the receptor less able to bind testosterone and to regulate the activity of other genes.
The message arrives intact, but the lock does not recognize the key.
It has three forms, complete, partial and mild, depending on how much tissues respond to androgens.
Sources (2)
- National Center for Biotechnology Information, StatPearls PublishingAndrogen Insensitivity Syndrome, StatPearlsPublished
- MedlinePlus Genetics, U.S. National Library of MedicineAndrogen insensitivity syndrome, MedlinePlus GeneticsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated