46,XX hernia uterus inguinale and vaginal agenesis.
The first reported case of hernia uterus inguinale in a chromosomally normal 46,XX female is presented. The diagnosis should be suspected in patients presenting with primary amenorrhea, a normal hair pattern, and an inguinal mass.
D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology; D005260:Female; D006552:Hernia, Inguinal / Q000150:complications*; D006801:Humans; D007621:Karyotyping; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*