Table 2.

Routine diagnostic work-up in MRKH syndrome

Examination	Typical findings
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.
Radiologic examination
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).
Biochemical analysis
Gonadotropins (FSH, LH)	Normal levels following menstrual cycle
Estradiol	Normal levels
Androgen status	Normal female levels
Chromosomal analysis (can be used to differentiate from 46,XY DSDs)	46,XX

Abbreviations: FSH follicle stimulating hormone, LH luteinizing hormone, MRI magnetic resonance imaging, US ultrasonography

^aTransabdominal US should be considered in younger patients