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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