A CASE REPORT OF MAYER ROKITANSKY KUSTER HAUSER SYNDROME

The Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (23) of the vagina in women showing normal development of secondary sexual characteristics and a normal,46 XX karyotype. It affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently associated with renal, vertebral and to a lesser extent auditory and cardiac defects (MRKH type II or MURCS association). The first sign of MRKH syndrome is primary amenorrhea in young women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, and karyotype 46, XX without visible chromosomal anomaly. For a long time the syndrome has been considered as a sporadic anomaly, but increasing number of familial cases now support the hypothesis of a genetic cause. In familial cases, the syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. However, the etiology of MRKH syndrome still remains unclear.