Page 48 - Journal of WALS

WJOLS

10.5005/jp-journals-10007-1128
CASE REPORT Mayer-Rokitansky-Kuster-Hauser Syndrome
Mayer-Rokitansky-Kuster-Hauser Syndrome

Meha Jabeen
Consultant, Obstetrician and Gynecologist, Yashodhara Hospital, Solapur, Maharashtra, India

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.
Keywords: Mayer-Rokitansky-Kuster-Hauser syndrome, Congenital anomalies of uterus.

CASE REPORT form the fallopian tubes, uterus, uterine cervix and superior
A 24-year-old female patient presented with primary infertility aspect of the vagina. A wide variety of malformations can occur
after 7 years of marriage and primary amenorrhea. History of when this system is disrupted. They range from uterine and
undergoing vaginoplasty 7 years back . vaginal agenesis to duplication of the uterus and vagina to
There was no history of delayed menarche in the mother minor uterine cavity abnormalities. Mullerian malformations are
and sisters. Secondary sexual characters were normal. frequently associated with abnormalities of the renal and axial
The significant findings were on vaginal examination which skeletal systems, and they are often the first encountered when
showed a blind-ended vagina with 3 cm depth. The clitoris, patients are initially examined for associated conditions.
labia majora and minora, and the vestibule were normal. Most mullerian duct anomalies (MDAs) are associated with
A clinical diagnosis of primary amenorrhea was made. functioning ovaries and age-appropriate external genitalia.
Abdominopelvic ultrasound revealed normal liver, spleen and These abnormalities are often recognized after the onset of
puberty. In the prepubertal period, normal external genitalia
both kidneys. However, no uterine tissue was seen in the pelvis. and age-appropriate developmental milestones often mask
The ovaries were visualized bilateraly. A diagnosis of congenital abnormalities of the internal reproductive organs. After the
absence of the uterus was made. Hormonal assay was normal. onset of puberty, young women often present to the
MRI reveals absent uterus with bilateral ovaries present. gynecologist with menstrual disorders. Late presentations
The karyotype result also came out to be 46, XX and include infertility and obstetric complications.
laparoscopy demonstrated ovoid, pearly white structures (in Because of the wide variation in clinical presentations,
keeping with the ovaries) bilaterally. The fallopian tubes were mullerian duct anomalies may be difficult to diagnose. After an
also demonstrated bilaterally with hypoplastic mullerian buds accurate diagnosis is rendered, many treatment options exist,
(bipartite). and they are usually tailored to the specific mullerian anomaly.
A diagnosis of mullerian duct anamoly was made Refinements in surgical techniques, such as the Vecchietti and
subclassifed as Mayer- Rokitansky - Kuster-Hauser syndrome McIndoe procedures, have enabled many women with mullerian
(type B—incomplete aplasia). duct anomalies to have normal sexual relations. Other surgical
Thus, here we report one case of Type B Mayer- Rokitansky- advances have resulted in improved fertility and obstetric
Kuster-Hauser syndrome. outcomes. In addition, developments in assisted reproductive
technology allow some women with mullerian duct anomalies
MULLERIAN DUCT ANOMALIES
to conceive and deliver healthy babies.
Developmental anomalies of the mullerian duct system represent
some of the most fascinating disorders that obstetricians and Tarry and Duckett Classification
gynecologists encounter. The mullerian ducts are the primordial It is based on physical and ultrasound examinations or
anlage of the female reproductive tract. They differentiate to laparoscopy, and prognostic implications regarding fertility and

World Journal of Laparoscopic Surgery, May-August 2011;4(2):123-128 123