|Physical examination including a precautious pelvic exam by an experienced pediatric/adolescent gynecologist.||
Normal height, secondary sex characteristics, and hair growth.|
Normal external genitalia.
Short blind-ending vagina (0–3 cm) with no cervix at the apex.
No uterus detected by manual palpation.
|US of internal genitalia (transvaginal/−perineal)a||
No uterus or vaginal canal.|
Two functional ovaries.
|Pelvic MRI scan||
Confirms the diagnosis.|
Determines the presence of rudimentary uterine buds or complete uterovaginal agenesis
|Renal scan (by US or MRI)||Renal abnormalities are found in approximately 30% of patients|
|Consider examinations for other associated malformations (e.g. EOS scan, otorhinopharyngeal assessment and echocardiography||Various skeletal malformations (axis and limbs), hearing impairment and congenital heart defects (rare).|
|Gonadotropins (FSH, LH)||Normal levels following menstrual cycle|
|Androgen status||Normal female levels|
|Chromosomal analysis (can be used to differentiate from 46,XY DSDs)||46,XX|