Androgen insensitivity syndrome

Case contributed by Dr Mohammad A. ElBeialy


Primary amenorrhea.

Patient Data

Age: 20 years
Gender: Female


Complete absence of the uterus as well as a rudimentary vagina. No ovarian tissue is identified.  

Case Discussion

Complete absence of the uterus as well as scanned upper vagina with a rudimentary vaginal pouch on clinical examination. No ovarian tissue was identified on the MRI examination. No ectopic testicular tissue was identified within the scanned pelvis or within the inguinal canals or the perineum. Androgen insensitivity syndrome (male pseudohermaphroditism) was suggested and the patient had undergone karyotyping that proved to be male 46 XY karyotype.

The differential diagnosis is Mayer-Rokitansky-Kuster-Hauser syndrome where the uterus is rudimentary or absent as well, however with female karyotype and almost normal female genitalia, and normal ovaries identified at imaging by US or MRI.

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Case information

rID: 38585
Published: 9th Oct 2016
Last edited: 14th Aug 2019
System: Urogenital
Inclusion in quiz mode: Included

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