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 |