[Disordant monozygotic twins with Mayer Rokitansky Kütser syndrome (author's transl)].
Two patients with vaginal agenesis are reported. Each had a normal twin. In one case, a Mayer Rokitansky Küster syndrome could be diagnosed by laparoscopy. In the other case it was probably the same syndrome. Monozygocy of the two pairs of twins was shown by examination of features of serum proteins, serum enzymes and erythrocytes with a probability of 99,8% and 99,1%. Only three other cases of discordant twins with MRK syndrome were reported in the literature, at least two of them monozygotic. Extremely rare cases of familial MRK syndrome were also found. Discordance of monozygotic twins makes a genetic etiology unlikely.
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D004200:Diseases in Twins; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D011247:Pregnancy; D013577:Syndrome; D014430:Twins, Monozygotic; D014621:Vagina / Q000002:abnormalities
Diskordante eineiige Zwillinge mit Mayer-Rokitansky-Küster-Syndrom