Page 51 - Journal of WALS

Meha Jabeen

mullerian duct agenesis and uterovaginal agenesis, may be In addition, some patients might have distinct radial dysplasia
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misleading and the term of “mullerian dysgenesis syndrome” and abnormalities of the carpals. It has been analyzed whether
is proposed. 7 the MRKH syndrome can be considered as a single clinical
entity or whether two or more syndromes lie behind the title of
Genetics and Molecular Basis of MRKHS MRKH syndrome. Two different syndromes in these patients
have been described, namely an isolated form of congenital
Pavanello et al (1988) stated that genetic problems are
interwoven with unilateral or bilateral renal agenesis, especially agenesis of the vagina and uterus (typical) and a more
that associated with mullerian anomalies as seen in MRKH generalized condition, in which agenesis of the vagina and
syndrome. The gene is single and autosomal dominant with uterus is a major and perhaps even obligatory characteristic
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variable expression. Ghirardini et al (1982) described the (atypical). Heidenreich et al (1988) observed that the patients
histological appearance of the rudimentary uterus, endometrium, with the Mayer-Rokitansky-Kuster (MRK) syndrome had the
uterine tube, Gartner's duct, round ligament, vagina and ovary typical findings of vaginal aplasia and bipartite solid uterine
in 10 cases of the MRKH syndrome. Their findings suggested buds but they proposed that the term “MRKH syndrome”
that this syndrome is due to the deficiency of estrogen and should no longer be used for cases with extragenital
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gestagen receptors. This deficiency may inhibit the further malformations. Strubbe (1992) described that the typical form
development of the embryonic mullerian duct and account for (type A) is characterized by symmetrical nonfunctioning
the subsequent faulty differentiation of its existing elements. It muscular buds (the mullerian duct remnants) and normal
is still undecided why, in cases of the MRKH syndrome, fallopian tubes, and the atypical form by aplasia of one or both
development of the mullerian duct ceases at the attachment of buds, one bud smaller than the contralateral one, with or without
dysplasia of one or both fallopian tubes. Radiographs of the
the caudal mesonephric ligament (later the round ligament). 9 spine showed that congenital spinal abnormalities, especially
Cramer et al (1996) reported that vaginal agenesis might be the Klippel-Feil (KF) syndrome, were seen more in patients with
associated with decreased activity of galactose-l-phosphate the typical form. Renal agenesis or ectopia together with the
uridyl transferase (GALT). They studied activity and genotype MRKH and KF syndromes, known as the MURCS association
of GALT in 13 daughters with vaginal agenesis and their (MU: Mullerian duct aplasia; R: Renal agenesis/ectopia; CS:
mothers. They concluded that fetal or maternal GALT mutations Cervical somite dysplasia), was also diagnosed in patients in
that decrease GALT activity may be associated with vaginal the atypical group. From their results, they concluded that
agenesis and have, as their possible biological basis, increased additional cervical spine films in patients with the MRKH
intrauterine exposure to galactose which has been demonstrated syndrome are indicated only in the atypical form of the
in rodents to cause decreased oocyte survival and delayed syndrome. In those cases, where the MRKH syndrome is
vaginal opening in offspring. 10
associated with the KF syndrome, the MURCS association
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should be considered. Strubbe et al (1994) conducted a
Review of Literature
multidisciplinary study on a total of 100 women with congenital
Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome is a absence of vagina and uterus, the Mayer-Rokitansky-Kuster-
congenital malformation characterized by an absence of vagina Hauser (MRKH) syndrome. The purpose of this study was to
associated with a variable abnormality of the uterus and the discriminate typical (type A) from atypical (type B) Mayer-
urinary tract but functional ovaries. In 1829, Mayer had described RokitanskyKuster-Hauser syndrome (congenital absence of
partial and complete duplication of vagina in four stillborns vagina and uterus) and determine their association with renal
along with other anomalies, like cleft lip, limb and cardiac defects anomalies and ovarian disease. Complete gynecological and
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along with urinary tract anomalies. Subsequently in 1838, laparoscopic data were available on all of the patients. The
Rokitansky reported 19 cases of uterovaginal agenesis along patients were divided into two groups on the basis of the
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with renal agenesis in three cases. Kuster (1910) described laparoscopic data; a typical and an atypical form of the MRKH
several cases of similar anomaly with various musculoskeletal syndrome. Associated anomalies were most common in the
defects. Hauser et al (1961), emphasized the importance of group with the atypical form of the MRKH syndrome. These
distinguishing this syndrome from that of testicular feminization findings suggest that there might be two different syndromes
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in both of which vaginal development is defective. The various in this patient group, namely an isolated form of congenital
mullerian defects described are agenesis of vagina or uterus, agenesis of the vagina and uterus (typical/type A) and a more
rudimentary/atretic vagina or uterus. Unilateral renal and skeletal generalized condition, in which agenesis of the vagina and
anomalies are associated in 50% and 12% of cases uterus is a major and perhaps even obligatory characteristic
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respectively. The skeletal abnormalities reported are fusion (atypical/type B). Hence, they proposed that the term MRKH
anomaly of vertebrae, congenital scoliosis and limb deformities, syndrome should no longer be used for the atypical group. A
like brachymesophalangy of digits, small distal phalanx of digits, suggestion has been made to call this type the GRES [genital
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long proximal phalanx of digits and long metacarpals of digits. (G), renal (R), ear (E), skeletal (S)] syndrome. Strubbe et al
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