Androgen insensitivity syndrome

Last revised by Yaïr Glick on 07 May 2022

Androgen insensitivity syndrome (AIS), also known as the testicular feminization syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings. 

The incidence may vary depending on whether it is complete or incomplete. Roughly estimated incidence rates are ~1 in 20,000 to 50,000 live births.

Patients can often present with primary amenorrhea.

Affected individuals are genotypically male with a 46XY karyotype but with a female phenotype (male pseudohermaphroditism). Individuals often have bilateral cryptorchidism. The undescended testes often produce estradiol. There may be a blind-ending vagina. 

Thought to carry an X linked recessive inheritance 3 where multiple mutations in the androgen receptor (AR) gene has been localized to the long arm of the X chromosome (i.e. Xq11-13).

Although it is a disease spectrum it may be subtyped according to the extent of severity as:

General imaging features include:

Usually, the first modality to locate the testes, and document absent uterus.

The modality of choice to accurately delineate Müllerian duct anomalies, and localize testes. It may also diagnose testicular malignancy, if any, in cryptorchid testes 7.

These patients have an increased incidence of malignancy in the undescended testes:

Mayer-Rokitansky-Küster-Hauser syndrome has female karyotype with normal female genitalia, and ovaries, but the uterus is rudimentary or absent 7.

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Cases and figures

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