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).
Etiology
X-linked recessive androgen receptor dysfunction
Incidence
1/20,400 to 1/99,100
Gender ratio
Genetic males
Age predilection
Congenital syndrome
Risk factors
Unknown
Treatment
Testicular removal after puberty and estrogen replacement. Vaginal dilatation or surgical reconstruction. Psychological support often needed. Alternative: watchful waiting
Prognosis
Good if testes are timely removed
Imaging findings
Transabdominal 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