Page 52 - Journal of WALS

WJOLS

Mayer-Rokitansky-Kuster-Hauser Syndrome

(1993), 19,20 emphasised that discrimination between type A and Management
type B of MRKH syndrome is important because associated The management of vaginal agenesis in Mayer-Rokitanksy-
renal and ovarian abnormalities occur only in type B.
Laparoscopy is still needed to discriminate between these two Kuster-Hauser syndrome has always been a controversial topic.
forms. 26 The choice of procedure and patient age at reconstruction
depend upon individual anatomy, fertility potential and
Urinary Tract Anomalies in MRKHS psychological and social factors. Initially, the arguments
centered on whether to do surgery or try passive dilation as
Unilateral renal anomalies are associated with 50% of the patients. well as at what age to intervene. As surgical techniques have
The various urinary tract anomalies reported are renal agenesis, recently become refined, the question is, if surgery is selected,
pelvic kidney, fusion anomaly, like horse-shoe kidney and what type of tissue should one use (bowel vs skin graft) and, if
vesicoureteric reflux.
skin graft, from what area to select. The aims are satisfactory
sexual activity with good anatomical and functional vagina along
Endocrine Function in MRKHS
with mechanical long-term outcomes. Until now, the
In most of the cases, both ovaries are normal and affected women recommended treatment, when resection of a rudimentary horn
have normal sexual activity. Occasionally, one ovary with was indicated, was laparotomy. The same goal can now be
ipsilateral fallopian tube may be absent. Hormone profile and achieved by laparoscopy. Laparoscopy is not only useful for
secondary sexual characteristics are normal in the cases of diagnosis of uterine malformations but can also be valuable for
Mayer-Rokitansky-Kuster-Hauser syndrome. 21 any treatment required for this type of malformation along with
creation of an artificial vagina (laparoscopic assisted
Karyotype and Familial Syndrome
vaginoplasty). 26,27
Smith et al (1982) reported that patients with MRKH have a
normal female karyotype and normal secondary sexual Psychological Aspect
22
development. Cabra el (1998) and Orozco-Sanchez et al (1991), Patients with MRKH syndrome might suffer from severe
performed blood genetics tests and biopsy of ovarian tissue distortions of body image, anxiety, depression, interpersonal
which showed 46, XX karyotype with no structural anomalies. 23 sensitivity and face a lot of psychological distress at diagnosis.
Smith used the appellation “Rokitansky malformation sequence”
to designate the mullerian agenesis in any clinical setting and Langer et al (1990) studied psychosocial sequelae of and coping
stated that about 4% of the cases in which ovaries and fallopian with malformation and treatment with semistructured interviews
tubes are present but which lack the body of the uterus and and the Giessen test. Anatomical and functional results of the
upper vagina are familial with affected female siblings. 22 vaginoplastic operation were excellent and sexual satisfaction
correlated with coping. 7/11 MRKH patients were capable of
Other Syndromes and Anomalies in good to fair adaptation to the malformation. The malformation
28
Association to MRKHS caused narcissistic damage in all cases. Behavioral problems
of the adolescent patients can be avoided by early appropriate
The various other associated anomalies reported are Klippel- guidance and reassurance.
Feil syndrome, Sprengel’s deformity, and congenital stapedial
ankylosis and ovarian cysts. 24
Can a Woman with MRKHS and Absent Uterus have
a Child? Its Medicolegal Implications
Investigations
Until recently, treatment for patients with vaginal agenesis
These tests included general physical examination, radiographs
of the vertebral column, the upper extremities and intravenous (Mayer-Rokitansky-Kuster-Hauser syndrome) has centered on
urography (IVU), general otorhinolaryngological and ossicular the creation of a functional vagina. The technology of in vitro
chain examinations. Ultrasound (US) of the abdomen and pelvis, fertilization and embryo transfer, allowing for collection of
which might show a dilated uterus with hematometra, the lesion oocytes from the genetic mother. Fertilization by the genetic
with functioning uterine anlage, cervical dysgenesis and an father and placement into a gestational carrier, enables a woman
obstructed uterine horn besides the delineation of kidneys and without a uterus to have her own genetic child. The specific
ovaries. Many investigators feel that transabdominal ultrasound medical and legal issues involved in facilitating genetic offspring
(US) may not provide a completely reliable picture in Mullerian in these instances must be considered; these include the initial
duct anomalies. Hence, magnetic resonance imaging (MRI) is matching of the genetic parents with the gestational carrier,
now gaining wide acceptance in imaging congenital cycle synchronization for in vitro fertilization and embryo
25
abnormalities of the genital tract. Genitography can further transfer, anatomic difficulties of oocyte retrieval, birth certificate
provide anatomical details specially in cases of partial vaginal documentation and the current legal status of a gestational
agenesis or coexistent genitourinary fistula. carrier. 29,30

World Journal of Laparoscopic Surgery, May-August 2011;4(2):123-128 127