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. #
MURCS association
VACTERL association
SAMPLE history
Bradford Hill criteria
Premorbidity
Jod-Basedow phenomenon
Anomaly scan
Comorbidity