MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME II (Rare Case).

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare disorder that affects one in 4500 females [ 1,2]. It accounts for approximately 15% patients with primary amenorrhea and is also the second commonest cause. Patients with MRKH syndrome usually express a normal 46,XX karyotype [2]. MRKH syndrome is usually present in the form of primary amenorrhea and abnormalities of internal genitalia, namely the absence of uterus and upper 2/3rd of vagina [1]. MRKH females usually have a small vaginal pouch [3]. These patients usually appear to have normal secondary sexual characteristics. Outer vaginal appearance, breast size and pubic hair growth are normal in most cases [2] Two types of MRKH syndrome have been described referred to as Type I and Type II. Type I MRKH syndrome occurs in an estimated 44% of MRKH patients and is described as a female presenting with mullerian agenesis and a short vaginal pouch. Patients with Type I donot present congenital complications [1,4]. Type II MRKH syndrome is estimated to present in 56% of cases, with Type I characteristics as well as with congenital abnormalities. These can include renal, skeletal, hearing and cardiac complications [4,5]. All women with MRKH syndrome have increased levels of psychological distress. The etiology is thought to be polygenic, multifactorial, genes such as the HOXA7, HOXA9-13, HOXD9-13 and WNT4 genes have been considered as possible offenders [1].The normal external appearance of MRKH syndrome patients makes it difficult to diagnose until puberty, typically diagnosed in mid adolescence. The average age of diagnosis is between 15-20 yrs although occasionally a girl may be diagnosed at birth or during childhood because of other health problems. Diagnosis of this syndrome is usually performed by means of ultrasound and magnetic resonance imaging [6]. MRI is the main stay of imaging evaluation of MRKH syndrome , not only to confirm clinically diagnosed mullerian anomalies of uterus but also to access the degree of vaginal dysgenesis and associated anomalies which have an impact on planning of treatment. An accurate diagnosis of MRKH is important as the patient can actually conceive and have their reproductive functions fulfilled with the help of surrogate uterus.