the mayer- rokitansky - kuster - hauser ( mrkh ) syndrome is a rare anomaly characterized by congenital aplasia of the uterus and vagina in women showing normal development of secondary sexual characters and normal 44 xx karyotype .
the uterine and vaginal agenesis in these karyotypic females may be accompanied by urogenital , skeletal or dental defects and other dysmorphias.[26 ] it is a rare disorder occurring in about 1 in 4000 to 5000 female births and is a common cause of primary amenorrhea . the diagnosis is often made during adolescence in the context of primary amenorrhea with normal puberty .
the cause of this syndrome is still not completely understood , but the frequent association of other malformations involving the kidneys , skeleton , and ears suggests the involvement of major developmental genes , such as those of the homeobox ( hox ) family .
these genes are known to play a crucial role during embryogenesis , particularly in the axial skeleton , the hindbrain , as well as , during urogenital differentiation .
treatment of the mrkh syndrome consists of creating a neovagina , which can be offered to patients when they are emotionally mature and ready to commence sexual activity .
treatment may either be surgical or non - surgical , but the chosen method needs to be tailored to the individual needs , motivation of the patients , and the options available .
we report our experience in the management of two patients with congenital absence of the vagina due to the mrkh syndrome .
faa was a 24-year - old student , referred to our unit with complaints of primary amenorrhea .
she was said to have had delayed development of secondary sexual characters compared to her siblings , but no history of sexual exposure .
the patient had no significant past medical history and no history of a similar problem in the family .
examination showed a young female patient with normal secondary sex characters and well - developed breasts ( tanner stage 4 ) .
vaginal examination showed normal vulva and urethral meatus , but a short ( 3 cm ) blind ending vagina [ figure 1 ] .
preoperative picture of case no.1 showing blind ended vagina an abdominal ultrasound scan showed an enlarged right kidney , with a moderate hydrocalicosis and hydroureter .
intravenous urography showed a low lying right hydronephrotic kidney and pelvi - ureteric junction ( puj ) obstruction .
computerized tomography ( ct ) confirmed the absence of a uterus , vagina , and left kidney , as well as , the presence of a right kidney and puj obstruction [ figures 2 and 3 ] .
computerized tomography scan of the first patient showing absence of left kidney , and puj obstruction of right kidney computerized tomography scan of the first patient showing absence of uterus the patient had initial anderson - hynes dismembered pyeloplasty , with an uneventful postoperative recovery .
the patient was counseled on the nature of the anomaly and the options available as well as the prospects of child bearing .
postoperative follow up visit at one year and subsequent telephone communication indicated normal and satisfactory sexual intercourse with her spouse .
intraoperative picture showing the prepared channel and distal vaginal segment ready for anastomosis with the colonic segment , to create a neovagina colonic segment prepared for vaginal reconstruction postoperative speculum examination of the first patient showing adequacy of the neovagina mm was a 24-year - old housewife who presented with complaints of primary amenorrhea , and inability to achieve penetrative sexual intercourse .
there was no family history of a similar illness ; there was no significant past medical history .
physical examination revealed a young female patient with normal secondary sex characters ; well - developed breasts ( tanner stage 4 ) , normal axillary hair and female pubic hair distribution ; there were no palpable groin or intra - abdominal masses .
vaginal examination showed normal vulva and urethral meatus , but a blind ending vagina ( about 3 cm ) .
the patient received three courses of estrogen and progesterone , to assess the functional state of the uterus , but there was no evidence of increase in the uterine size .
she was counseled on the nature of the anomaly and the treatment options available , as well as , the prospect of child bearing .
she had excision of the grossly hypoplastic uterus and successful construction of a colovagina [ figure 7 ] .
the lady was discharged on the fifteenth postoperative day , and counseled to resume coitus three months after surgery .
faa was a 24-year - old student , referred to our unit with complaints of primary amenorrhea .
she was said to have had delayed development of secondary sexual characters compared to her siblings , but no history of sexual exposure .
the patient had no significant past medical history and no history of a similar problem in the family .
examination showed a young female patient with normal secondary sex characters and well - developed breasts ( tanner stage 4 ) .
vaginal examination showed normal vulva and urethral meatus , but a short ( 3 cm ) blind ending vagina [ figure 1 ] .
preoperative picture of case no.1 showing blind ended vagina an abdominal ultrasound scan showed an enlarged right kidney , with a moderate hydrocalicosis and hydroureter .
intravenous urography showed a low lying right hydronephrotic kidney and pelvi - ureteric junction ( puj ) obstruction .
computerized tomography ( ct ) confirmed the absence of a uterus , vagina , and left kidney , as well as , the presence of a right kidney and puj obstruction [ figures 2 and 3 ] .
computerized tomography scan of the first patient showing absence of left kidney , and puj obstruction of right kidney computerized tomography scan of the first patient showing absence of uterus the patient had initial anderson - hynes dismembered pyeloplasty , with an uneventful postoperative recovery .
the patient was counseled on the nature of the anomaly and the options available as well as the prospects of child bearing .
postoperative follow up visit at one year and subsequent telephone communication indicated normal and satisfactory sexual intercourse with her spouse .
intraoperative picture showing the prepared channel and distal vaginal segment ready for anastomosis with the colonic segment , to create a neovagina colonic segment prepared for vaginal reconstruction postoperative speculum examination of the first patient showing adequacy of the neovagina
mm was a 24-year - old housewife who presented with complaints of primary amenorrhea , and inability to achieve penetrative sexual intercourse .
there was no family history of a similar illness ; there was no significant past medical history .
physical examination revealed a young female patient with normal secondary sex characters ; well - developed breasts ( tanner stage 4 ) , normal axillary hair and female pubic hair distribution ; there were no palpable groin or intra - abdominal masses .
vaginal examination showed normal vulva and urethral meatus , but a blind ending vagina ( about 3 cm ) .
the patient received three courses of estrogen and progesterone , to assess the functional state of the uterus , but there was no evidence of increase in the uterine size .
she was counseled on the nature of the anomaly and the treatment options available , as well as , the prospect of child bearing .
she had excision of the grossly hypoplastic uterus and successful construction of a colovagina [ figure 7 ] .
the lady was discharged on the fifteenth postoperative day , and counseled to resume coitus three months after surgery .
the mrkh syndrome is a rare , but widely discussed developmental failure of a part of , or the whole mullerian duct .
patients with this syndrome have a 46xx karyotype , normal female external genitalia , normal ovarian function , partial or incomplete absence of the vagina , and an absent or hypoplastic uterus with bilateral non - canalized tubes . while most patients present with the typical absence of the uterus and vagina , few present with the atypical form , where , in addition they have an asymmetric uterine remnant and abnormalities of the fallopian tubes .
these patients suffer severe distortion of the body image , anxiety , depression , interpersonal sensitivity , and face a lot of psychological distress at diagnosis . in our environment , where gender role and identity are very crucial , these patients and families face difficult times .
diagnosis is frequently made clinically , but often confirmed either radiologically or laparoscopically , in patients whose hormonal and karyotypic investigations for primary amenorrhea are normal .
the use of ultrsonography , intravenous urography , computerized tomography , and magnetic resonance imaging provide information about the degree of abnormality and associated renal anomalies.[21113 ] management of vaginal agenesis in the mrkh syndrome remains controversial .
the choice of procedure and patient age at reconstruction depend upon individual anatomy , fertility potential , and psychological and social factors .
the ideal timing for intervention is at or after adolescence , when the woman has reached physical and psychological maturity . in the past
, vaginal reconstruction procedures were performed on infants and pre - pubertal girls and this required inevitable surgical revision in adolescence before sexual activity .
deferring treatment allows the woman herself to be involved in the decision making and also increases compliance with the adjuvant dilatation therapy that may be required .
the goals of long - term treatments are to create a functional neo - vaginal canal with an adequate diameter and length , appropriate axial direction , and normal secretion / lubrication to accommodate sexual intercourse and to address the issue of fertility .
there are two main types of procedures ; the first consists of the creation of a new cavity and can be done surgically or non - surgically .
the second is vaginal replacement with the pre - existing canal lined with a mucous membrane ( a segment of bowel ) .
the most commonly used non - surgical procedure is the frank 's dilatation method , which involves the application first by the clinician and then by the patient of vaginal dilators , of progressively increasing length and diameter , and also ingram 's technique and its modifications.[1417 ] vaginal dilators have few complications as there are no anesthetic or surgical risks , but it is time consuming , causes the patient discomfort , and requires good patient motivation .
surgical treatment of the mrkh syndrome is achieved by vaginal reconstruction , which includes ; williams vaginoplasty , which involves suturing the labia majora into a perineal pouch , but the vagina created is external , short , and unsatisfactory for penetrative intercourse ; this procedure is no longer practiced .
the vecchietti procedure consists of increasing the vaginal size by gradually applying traction to the vaginal wall .
finally , the neo - vagina can be created within the rectovesical space and lined by different tissues such as skin ( mcindo - reed ) , peritoneum ( davydov ) , and intestine .
reconstructing the vagina using intestinal segments creates an aesthetically pleasing vagina , does not require moulds , dilatation or lubrication , and in children , the neo - vagina grows with the child with less risk of stenosis .
the sigmoid colon has certain advantages , such as , a thick wall , large diameter , does not traumatize easily , has adequate mucosal secretion , which although adequate for lubrication is not excessive or irritating , and does not require regular dilatation after the postoperative period .
both had an uneventful postoperative recovery and were satisfied with the immediate outcome . in conclusion
vaginal reconstruction using the sigmoid colon has given a good , immediate outcome in this report .
long - term follow - up will be needed to assess the long - term outcome , with regard to complications , sexual satisfaction of patients and spouses , as well as , their adaptation and resolution of fertility issues .
 the mayer - rokitansky - kuster - hauser ( mrkh ) syndrome is a rare anomaly characterized by congenital aplasia of the uterus and vagina in women showing normal development of secondary sexual characters and normal 44 xx karyotype . 
 we report our experience in the management of two patients with congenital absence of the vagina due to the mrkh syndrome . 
 the first case was a 24-year - old student , who presented with primary amenorrhea , uterovaginal agenesis , right pelvi - ureteric junction obstruction , and left renal agenesis . 
 the second patient was a 24-year - old housewife , who presented with primary amenorrhea and inability to achieve penetrative sexual intercourse . 
 she had vaginal atresia and a grossly hypoplastic uterus . 
 both had successful sigmoid colovaginoplasty and are sexually active . 
 vaginal reconstruction using the sigmoid colon saw an immediate and satisfactory outcome in both patients 
INTRODUCTION
CASE REPORTS
Case 1
Case 2
DISCUSSION