in clinical practice , one may encounter female patients with infertility which may be attributed to primary or secondary causes . in the group of primary infertility , congenital anomalies form relatively small but significant group .
mayer - rokitansky - kuster - hauser syndrome ( mrkh ) is characterized by congenital absence of the uterus and vagina .
there is a failure of development of the mullerian derivative of the vagina and the portions of the mullerian ducts that form the uterus .
the american fertility society classification , based on uterine anomalies is most commonly used to classify mullerian duct anomalies .
mrkh syndrome is a class 1 mullerian duct anomaly , and it has been subdivided into typical or type a and atypical or type b. patients with type a syndrome have symmetric muscular buds , normal fallopian tubes .
patients with type b have asymmetric muscular buds , abnormal fallopian tubes , and may be associated with other congenital anomalies such as renal , skeletal , hearing , cardiac , and ocular anomalies .
out of few genes which are identified in causation , one candidate is a mutation of the wnt4 gene , a developmental gene which regulates growth and differentiation during embryogenesis .
women with this syndrome are characterized by the presence of 46 xx karyotype , normal female secondary sex characters , normal ovarian functions , and underdeveloped vagina .
the presence of leiomyoma in mrkh syndrome is very rare , and only a few cases have been reported in the literature . here , we report a case of mrkh syndrome ( type a ) with multiple leiomyomas originating from the rudimentary uterus .
twenty - five years married female presented to the gynecology outpatient department with primary amenorrhea .
secondary sexual characters revealed the presence of pubic hair and axillary hair ( tanner stage 5 ) [ figure 1a ] .
ultrasonography examination showed agenesis of the uterus with right adnexal mass measuring 5 cm  4 cm  4 cm .
differential diagnosis of leiomyoma of the rudimentary uterus in mrkh syndrome includes ovarian fibroma , a gastrointestinal stromal tumor of the intestine and extravesical leiomyoma of the urinary bladder .
values were : serum follicle stimulating hormone 7.17 miu / ml ; serum leutenizing hormone 15.6 miu / ml ; serum prolactin 10.64 ng / ml ; and cancer antigen 125 4.5 iu / ml . with a provisional diagnosis of mrkh syndrome associated with right adnexal mass , she was taken for laparotomy . a rudimentary bicornuate uterus measuring 1.5 cm  1.5 cm with a small cervix measuring 1 cm  1
a total abdominal hysterectomy was performed in view of the presence of multiple nodules in a nonfunctional uterus .
multiple myomertial nodules [ figure 1b ] were seen arising from the rudimentary right and the left horns of the uterus [ figure 1c ] .
on cut section of the specimen , uterine horns were found noncommunicating , and they had a rudimentary endometrial cavity .
all the nodules were well circumscribed , grayish white and had a characteristic whorled appearance .
histological examination revealed features of leiomyoma [ figure 1d ] with rudimentary mullerian lining [ figure 1e ] .
failure of fusion and development of mullerian ducts results in muscular thickening at the proximal end of each tube that are joined in the midline by a visible and palpable cord resembling hypoplastic bicornuate uterus without an endometrial lining . rarely , an active endometrium can exist with uterine analog , which becomes active in the presence of well - estrogenized state . in literature
, it is mentioned that fibroids and adenomyosis rarely develop in the rudimentary nonfunctioning uterus .
cytogenetic abnormalities in the form of spontaneous chromosomal rearrangements are known to occur in uterine leiomyomas .
these chromosomal arrangements may be responsible for the initiation and progressive growth of the leiomyomas .
the leiomyomas are found to have higher concentration of estrogen receptors as compared to normal myometrium .
these might explain the propensity to develop leiomyoma in the presence of exogenous and endogenous estrogen .
as the proximal ends of mullerian ducts have smooth muscles , the presence of leiomyoma in a case of mullerian agenesis is a theoretical possibility .
however , the occurrence of multiple leiomyomas in a rudimentary uterine bulb has been rarely reported earlier . the possible reason for this uncommon occurrence could be a decreased concentration or sensitivity of the estrogen receptors or a lesser genetic predisposition for the clonal chromosomal abnormalities that are observed in women with normal uterus with leiomyomas . in our patient , we could not perform cytogenetic and receptor studies to point out the exact etiopathogenesis of this unique occurrence of multiple leiomyomas in the rudimentary uterine bulbs .
hysterectomy was performed in our case in view of nonfunctioning uterus and risk of recurrence after myomectomy .
treatment for patients of mrkh syndrome with leiomyoma is myomectomy or hysterectomy and vaginal reconstruction ( vaginoplasty ) .
frank 's dilatation method , williams vaginoplasty , vecchietti procedure , abbe - mcindoe vaginoplasty and davydov technique . with advances in minimal access surgery
the ovarian function is normal in these patients so that ovum can be retrieved and with the help of a surrogate mother , it is possible to have fertility potential .
 mayer - rokitansky - kuster - hauser ( mrkh ) syndrome is a rare disorder described as aplasia or hypoplasia of uterus and vagina due to an early arrest in development of mullerian ducts . 
 women with this syndrome are characterized by the presence of 46 xx karyotype , normal female secondary sex characters , normal ovarian functions , and underdeveloped vagina . 
 the presence of leiomyoma in mrkh syndrome is very rare , and only few cases have been reported in the literature . here , we report a case of mrkh syndrome with multiple leiomyomas originating from the rudimentary horn of uterus in 25 years married , phenotypically female patient . 