| An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact etiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. |
