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

Table 2

Differential diagnosis for complete androgen insensitivity syndrome (CAIS). Adapted from Gottlieb et al. [6].

Type	External genitalia “synonyms”	Findings
CAIS	Female (“testicular feminization”)	XY karyotype; Absence of Mullerian structures; Abdominal or inguinal testes; Female external genitalia; Breast development; Blind-ended vagina; Scant or absent pubic and/or axillary hair
	Predominantly female (“incomplete AIS”)	XY karyotype; Absence of Mullerian structures; Breast development; Clitoromegaly and labial fusion; Distinct urethral and vaginal openings or a urogenital sinus
PAIS	Ambiguous	XY karyotype; Absence of Mullerian structures; Microphallus (<1 cm) with clitoris-like underdeveloped glans; labia majora-like bifid scrotum; Descended or undescended testes; Perineoscrotal hypospadias or urogenital sinus; Gynecomastia/development of breast
	Predominantly male	XY karyotype; Absence of Mullerian structures; Simple (glandular or penile) or severe (perineal) “isolated” hypospadias with a normal-sized penis and descended testes or severe hypospadias with micropenis, bifid scrotum, and either descended or undescended testes; Gynecomastia in puberty
MAIS	Male (“undervirilized male syndrome”)	XY karyotype; Absence of Mullerian structures; Impaired spermatogenesis and/or impaired pubertal virilization; Gynecomastia in puberty
MRKH	Female	XX karyotype; Absence of uterus and upper vagina; Presence of female external genitalia and ovaries; Normal breast development