Original Article

Diagnosis and Management of Congenital Anomalies of Sarwat Ara, Sumera Tahir

Abstract Objective: To create awareness by presenting case plastic treated with . Results: series of congenital anomalies of the vagina, their 7(38.88%) cases of , 4(22.22%) diagnosis and management. Design: Interventional cases of imperforate , 1 (5.55%) case of case series. Setting: Allied Hospital PMC with absent and functioning Faisalabad. Materials and Methods : 18 patients uterus,1(5.55%) hypo plastic uterus with absent with were reviewed between lower vagina were operated for creation of vagina. March 2008 and February 2011. Patients were Functioning vagina with a minimum of 4-5cm width evaluated by symptoms, physical examination and in the former area of the septum and atretic vagina investigations. After management they were was created. 3(16.66%) longitudinal vaginal septum followed up to a period of minimum 3 months to a were operated during labor, a satisfactory sexual life maximum of 2 years. Main Outcome Measures: was reported by all except in one of the group. We Improvement in symptoms, creation of vagina with achieved 88.23 %( 15/17) successful results. While at least a 3-5cm in width leading to perfection of 1(5.55%) cases of absent uterus and vagina in non sexual life and fertility. Interventions: were done in Inter- vented group did not follow back. 16 (88.88%) cases of transverse and longitudinal Conclusion: Congenital anomalies of the vagina vaginal septum, and absent have long term impact on patient sexual and vagina. Transverse vaginal septum and longitudinal reproductive life. New born girls must be examined septum was removed, imperforate hymen incised for vaginal defects initially so that investigations and no postoperative contractures occurred. Mayer- could be arranged for further abnormalities such as von Rokitansky-Küster-Hauser’s Syndrome upper mullerian duct and renal tracts. Key Words: (MRKH) was managed by non surgical method. vaginal anomalies, transverse vaginal septum, While absent vagina and cervix with functioning vaginoplasty, genital malformations, uterus was treated with abdominal Haematocolopos, Haematometra, Imperforate followed by vaginoplasty and absent vagina with hymen, Mayer-von Rokitansky-Küster-Hauser’s rudimentary/hypo Syndrome (MRKH)

INTRODUCTION and hearing problems 3,4 occurs 1:4,000-5,000 female Female genital malformations occur in 5% of the 5 1 births , 30-36% of such genital malformations are general population . Different Vaginal abnormalities 6 2 associated with anomalies of the kidneys and skeleton . include Müllerian aplasia (MRKH), vertical fusion defects resulting from incomplete fusion of mullerian A vaginal septum is a congenital separation within ducts to the . It includes transverse the vagina. Longitudinal vaginal septum develops vaginal septum and . Lateral fusion during embryogenesis due to an incomplete fusion of the lower parts of the two mullerian ducts. As a result defects of the two Müllerian ducts resulting in 7 longitudinal vaginal septum with or without uterine there is a double vagina . A transverse septum appears abnormalities 2. MRKH is a syndrome characterized by between the junction of urogenital sinus and the sinovaginal bulb. It generally occurs between the upper congenital aplasia of the uterus and the upper part (2/3) 8 of the vagina in women with or without renal, skeletal one-third and lower two-thirds of the vaginal canal .

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The reported incidence of all transverse vaginal in the hymen was given and haematocolopos was septum is 1:2,100 - 1:72,000 9,10 . Imperforate hymen is drained. They remained well during their follow up. a gynecological abnormality which is usually not Longitudinal vaginal septums were detected in 3 detected until the onset of . The exact (16.66 %) patients. All were discovered during labor incidence and prevalence remained uncertain. and evacuation and curettage; septum was removed However it occurs round about 1:1000-10,000 during delivery and at the time of evacuation. During population 11 , mainly in teenage girls with the their follow up vagina remained normal and patients symptoms of primary , recurrent lower relieved of dyspareunia. The aim in absence of uterus abdominal pain and 12 . Imperforate and vagina was to create a blind-ending vaginal pouch hymen, transverse septa, and distal vaginal agenesis by surgical or conservative approach. The surgical and Müllerian aplasia may appear similar on technique (Abbe-McIndoe) involves dissection symptoms and assessment 13 . between bladder and rectum followed by placement of History, examination Sonocolpography 14 is significant a mold covered with an amnion graft into the space, in diagnosing the complete transverse vaginal septum and conservative approach (Franck’s dilator method) and other related conditions. MR imaging is opted for by forceful dilation of a shallow rudimentary vaginal distinctive delineation of congenital anomalies of pit with the serial application of progressively wider vagina when results of physical examination and and longer dilators. There were 2 (11.11%) patients ultrasound are inconclusive 15 . belonging to MRHK syndrome and had absent uterus and vagina with unilateral renal agenesis and presented MATERIALS AND METHODS with primary amenorrhea. In these patients non- Patients with vaginal anomalies were reviewed surgical method of neovagina was opted. They were between March 2008 and February 2011. Patients were counseled, explained about vaginal dilation. They admitted through OPD and emergency. They were adopted willingly conservative approach. 1 (5.55%) evaluated by history examination and relevant patient remarried; relieved of symptoms while 1 investigation like ultrasonography, MRI and reviewed (5.55%) did not come for follow up. 1 (5.55%) patient by their relevant interventions like hymenectomy, had absent vagina but functioning uterus and presented removal of vaginal septum, vaginoplasty and with primary amenorrhea with cyclical abdominal pain. abdominal hysterectomy. All patients were followed In this patient, vagina and cervix were absent but for a minimum of 3 months to a maximum of 2 years. uterus was functional so abdominal hysterectomy with removal of was done. Later on RESULTS vaginoplasty with amnion grafting was performed as During mentioned period a total of 18 cases with four second step procedure. Fortunately the above patient types of congenital vaginal malformations were picked did well and got remarried. Remaining 1 (5.55%) out. These were transverse and longitudinal vaginal patient with absent lower vagina having hypo plastic septum, imperforate hymen, absent vagina with or with uterus underwent vaginoplasty with amnion grafting; it out functioning uterus (MRHK syndrome). Out of 18 was followed by vaginal stenosis. patients, 7 (38.91%) were selected for removal of transverse vaginal septum. All were having partial DISCUSSION vaginal septum with a fenestre at variable sites. All A wide variety of Müllerian anomalies has been these 7 patients had history of dyspareunia and described in the literature. Various combinations of prolonged duration of menstruation. After surgery 5 of anomalies may coexist in a single subject 16 . Symptoms 7 patients with transverse vaginal septum were of vaginal obstruction occur at the time of ; relieved of dyspareunia and conceived during follow depending upon complete or partial obstruction. If up period. All 4 (22.22%) patients with imperforate remain uncovered may lead to dyspareunia or hymen came with retention of urine, primary obstruction in labor. It was suggested that whenever a amenorrhea and cyclical lower abdominal pain. patient presented with amenorrhea, dyspareunia, Imperforate hymen, transverse septa, and distal vaginal apareunia, prolonged menstruation and infertility; an agenesis differentiated by history, examination and evaluation for vaginal obstruction must always be Sonography. For Imperforate hymen cruciate incision performed 17 . A.P.M.C Vol: 5 No. 2 July-December 2011 125

In this study 44.44% patients presented with primary vaginal septum were asymptomatic while it was 56.4% amenorrhea in contrast to 59.2% in one study 18 . In the in another study 23 . Obstetric complications are mainly present study 100% patients with imperforate hymen linked to a as occurred in 33% presented with acute retention of urine along with cases contrary to 87.8% uterine malformations primary amenorrhea and abdominal pain in contrast to documented in the previous study 23 .However we a ten year study 19 which revealed that 53% presented removed longitudinal vaginal septum due to with acute retention of urine while 47% with other predisposition to dystocia 23 . Handling imperforate symptoms like lower abdominal pain, lower abdominal hymen, longitudinal septum, and low thin transverse mass, and protruding Introital mass.The current case septum are fairly easy and simple, but surgeries series explored 38.88% patients with transverse involving vaginal agenesis in association with vaginal septum, 16.66% longitudinal vaginal septae, functional uterus are complicated. Absent uterus and 22.22% imperforate , 11.11% absent uterus vagina is less problematic as compared to absent and vagina, 11.11 % absent vagina with uterus. vagina and functioning uterus without cervix along Comparing our results with one Chinese study 18 we with as occurred in 1/18 cases. It found dissimilar results of 12.3% transverse vaginal requires skill and experties 24 Creation of a cervix is septum, 17.2% longitudinal vaginal septae, 9.8 associated with a very high rate of infection and imperforate hymen and 19.7% absent vagina. It is also mortality 25 . contrary to study 20 where we found transverse vaginal The best management in during the study our opinion septum, longitudinal vaginal septae, and imperforate was abdominal hysterectomy and removal of hymen 11.5%, 27%, and 50% respectively. Patients endometrioma followed by second step Vaginoplasty. having primary amenorrhea along with cyclical pain In mullerian aplasia or absence of uterus and vagina, need to be differentiated between transverse vaginal the creation of a vaginal pouch remains the objective septum and imperforate hymen. They are differentiated so Franck’s dilator conservative approach and Abbe- by bluish bulging membrane of imperforate hymen from pinkish thickened membrane of transverse McIndoe surgical technique were tried. We adopted vaginal septum. Imperforate hymen can also be non surgical methods were adopted for neovagina differentiated from a low transverse vaginal septum by in11 % (2/18) came out successful in 50% (1/2). It Valsalva maneuver. Former bulges outward with seems dissimilar to success rate of vaginal dilation of Valsalva whilst there is no outward bulge in patients 92-100% in different studies 26,27 . The decrease in with transverse vaginal septum 21 . success rate might be that our 50% (1/2)loss of patients Transverse partial septum with pinpoint openings may during follows up. In mentioned study 11 % (2/18) remain hidden during gynecologic examination as it underwent surgical Vaginoplasty with amnion grafting, occurred in our cases that were revealed during period out of which 50% (1/2) came out to be successful. It is of menstruation. In present study patients with in contrast to100% clinical outcome in another transverse septum were treated with by incising and 18 27 removing the partial septum. Patient did very well after study .Mizia K et al concluded in their study that surgery. Then reproductive outcome was good in dilators are effective in creating a functionally useful 71 .4 %( 5/7) patients who became pregnant. It is not vagina because surgery mandates well-trained experts in accordance to study 20 where pregnancy outcome and definitive primary operation. Regarding renal and was 94% in the transverse septum The reason for less other system anomalies, 16.66 % had absent one sided success rate might be that in present study 28.5 %( 2/7) kidney while no patient had skeletal abnormality in were divorced however it is more than 47% found in current study. Associated congenital anomalies of the 22 another study . upper urinary tract are reported to occur in 30-40% of In this study all longitudinal vaginal septae (3/18) were all cases of MRKH syndrome 28 . Unilateral renal received during labor and evacuation. Patients with agenesis were present in 21% patients with major longitudinal vaginal septum may or may not have any 29 symptoms. It may rupture during coitus or could uterine malformations in one study while Urinary persist and be recognized by obstetrician during labor. symptoms and associated urinary abnormalities were 17 In the present study 66% patients with longitudinal detected in more than 50% of cases in another study. A.P.M.C Vol: 5 No. 2 July-December 2011 126

Table-1 Table-3 Distribution of vaginal anomalies in relation to age, Different Anomalies and Management marital status, parity and other associated Anomalies Surgical Procedure No. Conservative No. anomalies Transverse vaginal Picking, incising and 7 septum cutting of septum Longitudinal Removed during labor 3 vaginal septum Parity Parity

Number Number Imperforate Hymenectomy 4 anomalies anomalies Associated Associated vaginal vaginal Type of Type of Mean age age Mean anomalies anomalies hymen &drainage of Marital status Marital Transverse 7 23.8 Married-5 zero nil haematocolopos vaginal septum divorced-2 Absent uterus & ------Creation of 2 Imperforate 4 13.3 Unmarried nil vaginal neovagina by hymen 4 vaginal Longitudinal 3 22.3 Married - 3 Primigravid - Septate dilators vaginal septum 2 uterus with Abortion-1 absent Absent cervix Total abdominal 1 kidney vaginal & hysterectomy with Absent uterus 2 24 Married zero Both had functioning uterus removal of and vaginal and one absent endometrioma & divorced 2 kidney Vaginoplasty Absent cervix 1 19 Unmarried ---- nil Hypo plastic Vaginoplasty 1 vaginal and functioning uterus uterus Lower Hypo plastic 1 18 Unmarried ---- nil vagina uterus , Lower absent vagina Total 16 2 absent Total 18 18 3/18 Table-4 Table-2 Effect of Intervention /non Intervention on outcome Types of vaginal anomalies with clinical presentation Anomalies Improved symptoms Remarks or Total Type of vaginal No. Percentage Presentation regarding fertility, symptoms not Patients anomalies (%) Menstrual and sexual improved Transverse vaginal 7 38.88 Dyspareunia/ problems. septum Apareunia/ Transverse 5 2 were divorced 7 prolonged vaginal septum menstruation Imperforate 4 having normal Unmarried 4 Imperforate hymen 4 22.22 Primary hymen menstruation amenorrhea/ Longitudinal No dyspareunia Discovered during 3 vaginal septum labor and pregnancy cyclical pain/ Fertility was not retention of urine problem Longitudinal vaginal 3 16.66 h/o dyspareunia All Absent uterus 1 got married and 1 Lost during follow 2 septum presented during & vaginal improved apareunia up pregnancy/ labor dyspareunia Absent uterus and 2 11.11 Desire for Absent cervix Improved symptoms of 1 vaginal remarriage & vaginal and endometriosis got primary functioning married with normal amenorrhea uterus sexual function Absent cervix vaginal & 1 5.55 Primary Hypo plastic - symptoms not 1 uterus Lower Improved functioning uterus amenorrhea/ vagina Vaginoplasty which cyclical pain absent was followed Hypo plastic uterus 1 5.55 Primary byVaginal stenosis Lower vagina amenorrhea remained absent dyspareunia Total 18 100 Total 18 A.P.M.C Vol: 5 No. 2 July-December 2011 127

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