A case of a 26 year old nulligravid diagnosed with Mayer-Rokitansky-Kuster-Hauser Syndrome is being presented. She came to our institution for creation of a neovagina. On examination, she was noted to have a blind-ending vaginal canal measuring 2.1 centimeters in depth. Transvaginal sonography revealed absence of the uterus. Creation of a neovagina was performed using a sigmoid graft. This procedure will be compared to other techniques used for vaginal reconstruction. The etiology, clinical features, evaluation and management of Mayer-Rokitansky-Kuster-Hauser Syndrome will be discussed.
Human ; Female ; Adult ; ROKITANSKY KUSTER HAUSER SYNDROME

The possible etiologies for primary amenorrhea are classified into four groups based on the presence or absence of the uterus and the development of the breasts. Based on this, gonadalc dysgenesis and mullerian agenesis in a patient with no Y chromosome are two separate causes of primary amenorrhea. These two conditons seen together is a very uncommon occurence. Presented here is such a case where the diagnosis Turner Syndrome and the Mayer-Rokitansky-Kuster-Hauser Syndrome coexist in apatient with a 45, X [6]/46, X, i(X) (q10)[9] karyotype.
TURNER SYNDROME ; ROKITANSKY KUSTER HAUSER SYNDROME ; AMENORRHEA ; ;

The Mayer Rokitansky Kuster Hauser Syndrome (MRKHS) is characterized by congenital absence of the uterus and the middle to upper thirds of the vagina. Women with this syndrome are genotypically female presenting with primary amenorrhea, female secondary sexual characteristics, normal ovarian function, absent or short blind vagina and the presence of uterine remnants or rudimentary uteri. The occurrence of leiomyoma in a patient with MRKHS arising from the fibromuscular tissues of uterine remnants is very rare. As the mullerian ducts have smooth muscles, the presence of a myoma is a possibility. This paper aims to explain the pathogenesis of leiomyoma arising from the uterine remnants in patients with MRKHS and to present a comprehensive review on the clinical presentation, diagnostic evaluation, and management of this condition. There is paucity of documented cases of leiomyoma associated with MRKHS reported in literature. This is a the first case reported locally.
MAYER ; ROKITANSKY ; KUSTER HAUSER ; SYNDROME ; MULLERIAN ; AGENESIS ; PRIMARY ; AMENORRHEA ; LEIOMYOMA ; UTERI

Vaginal agenesis is an uncommon congenital anomaly and such complex malformations are usually incorrectly identified. Deviations from the normal embryologic events in the reproductive system may result to malformations which may exhibit with the same clinical presentation. A complete history and physical examination coupled with appropriate imaging techniques are necessary to arrive at a correct diagnosis. Physicians must be aware of the differential diagnosis and management options available. A correct diagnosis must be made prior to any surgical intervention to prevent inappropriate surgeries with their anticipated complications. In cases with vaginal outlet obstruction, an accurate diagnosis with the adequate treatment reduces the need for re-operations and subsequent complications. Reported are three misdiagnosed cases of distal vaginal agenesis resulting to unwarranted surgical interventions.
Human ; Female ; Adolescent ; ABNORMALITIES ; VAGINA ; HEMATOCOLPOS ; HEMATOMETRA ; ROKITANSKY KUSTER HAUSER SYNDROME