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Table 2 Routine diagnostic work-up in MRKH syndrome

From: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

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
  1. Abbreviations: FSH follicle stimulating hormone, LH luteinizing hormone, MRI magnetic resonance imaging, US ultrasonography
  2. aTransabdominal US should be considered in younger patients