Case Report

Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults

Table 1

Summary table for complete androgen insensitivity syndrome (CAIS).

EtiologyX-linked recessive androgen receptor dysfunction
Incidence1/20,400 to 1/99,100
Gender ratioGenetic males
Age predilectionCongenital syndrome
Risk factorsUnknown
TreatmentTesticular removal after puberty and estrogen replacement. Vaginal dilatation or surgical reconstruction. Psychological support often needed. Alternative: watchful waiting
PrognosisGood if testes are timely removed
Imaging findingsTransabdominal US
Absence of Mullerian structures
Presence of testes (usually smaller and slightly hypoechoic relative to normal testes)
MRI
Axial plane: absence of Mullerian structures, presence of testes and female external genitalia Evaluation of incidental testicular malignancy
Sagittal plane: absence of uterus. Evaluation of presence and length of the lower vagina
Coronal plane: presence of testes and female external genitalia. Absence of Mullerian structures