Mayer-Rokitansky-Kuster-Hauser Syndrome

Abstract

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least one out of 4,500 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 a 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. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or associations and thus require accurate delineation. For a long time, the syndrome has been considered as a sporadic anomaly, but increasing number of familial cases now supports 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. This suggests that the involvement of either mutations in a major developmental gene or a limited chromosomal imbalance. However, the etiology of MRKH syndrome still remains unclear. Treatment of vaginal aplasia, which consists in creation of a neovagina, can be offered to allow sexual intercourse. As psychological distress is very important in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment.

Primary Amenorrhea with Mayer-Rokitansky-Kuster-Hauser Syndrome

“…The typical clinical presentation of this syndrome is primary amenorrhea, in association or not with cyclic colic pain, in an adolescent with secondary sexual characteristics compatible with age, with no sign of virilization. Gynecologic examination may detect either absence of the vaginal canal or vaginal shortening [1], [2].…”

“…Patients who want to have children should be encouraged to adopt, or the possibility of having biological children by means of assisted reproduction techniques should be suggested, considering that the presence of functional ovaries in these women allows the production of normal ovules [2], [9]. Surgical treatment of MRKH syndrome is achieved by vaginal reconstruction, which includes; Williams vaginoplasty, which includes sewing the labia majora into a perineal sac, but the vagina made is external, short, and unsatisfactory for penetrative sexual intercourse; this procedure is no longer practiced.…”

Mayer-Rokitansky-Küster-Hauser Syndrome In A Young Woman

“…The various other associated anomalies reported in MRKH syndrome are Klippel-Fiel syndrome, Sprengel's deformity, a congenital stapedial ankyloses, and ovarian cysts. Unilateral renal and skeletal abnormalities are observed in 50 and 12% of cases, respectively (1,10).…”

“…Genitography can be particularly beneficial for picking up partial vaginal agenesis or co-existent fistula of the genitourinary tract (10). The definitive management of vaginal atresia in MRKH syndrome has heretofore been debatable.…”

Magnetic Resonance Imaging and Clinical Features in Mayer-Rokitansky-Kuster-Hauser Syndrome

“…Vaginoplasty surgery can be performed open or closed surgical technique in many ways after recovery of sexual function and emotional development [12]. Today, MRKH syndrome cases cannot have children without surrogate mother.…”