Let us talk about the diagnosis & missed diagnosis of congenital mullerian anomalies . What is the prevalence of congenital mullerian anomalies?

congenital mullerian   anomalies abnormalitirs occur in approximately 5% of females of general population but often remain undiagnosed!!! The clinical    assessment along with pelvic   ultrasound   and magnetic resonance imaging   are all useful for diag purpose but MRI is best to arrive at a definitive diagnosis .    There can be   more than one anatomic defect in a given woman but the balance is in favour of investigating details of anomalies   of the Mullerian Tract before framing the operation  Q. 2: What are the    various kinds of classification   systems   for mullerian   anomalies? Ans:- The   most widely  used classification  being the  A)  American society    of Reproductive  medicine   classifications ( American   fertility society  classifications  of adnexal  adhesion distal   tubal occlusion  secondary due to tubal ligations  tubal pregnancies   Mullerian anomalies   and intrauterine  adhesions Fertil Steril .  B) The European society of Human Reproduction and Embryology and the European Society   for Gynaecological Endoscopy have also developed a  new classification  system for Mullerian anomalies . Which gene helps to development of definitive gonads??  Ans:-The regulatory gene    networks   are involved in sexual   dimorphism and as development procedes à   the neutral gonad under the genetic influence -à Proceed to ovarian development. This development(development to ovary)  is promoted and testicular development   is  inhibited by the expression of RSP01  , WNT4  , CTNNB1, FOXL2 and FST  genes ( Ono M , Harley VR : Disorders of sex   development , new genes ,  new concepts : Not Rev Endocrinol 2013:9. 79-91. )  . Without   AMH, the Mullerian ducts   continue to develop caudally and medially   with midline fusion to create    the fallopian tubes,   uterus,    cervix   and upper vagina.

Part I:--Transverse vaginal setpae management:--  A) If thin septa:--Thin ,   perforate  septa  can be  operated  vaginally  with low   complication   rates  and good   long term reproductive outcomes and long term outcomes . Occasionally rotation   of perineal skin flaps    is required   to bridge the vaginal    defect   and ensure a normal   caliber vagina. Septa that are mid or high   and < 2 cm thick   with an   adequately distended proximal   vagina  and no other complex pelvic anomalies  are suitable  for laparoscopic   resection . These have also been shown to have low complication rates and good long term reproductive outcomes. Sometimes one has consider   the possibility that a bowel segment may be required   to bridge the gap between the proximal   and distal vaginas. Skin grafts have also   been used    for this purpose   however these    are    often unsuccessful   when there  is scarring  from previous    surgery   and there  is a risk  of scarring and vaginal   stenosis   from previous  surgery      and there  is a risk of  scarring and   vaginal   stenosis   in the donor  region. Sometimes thick Tr vag septum may warrant abdominoperineal   vaginoplasties  which  often   involve    complex reconstructive    surgery    and therefore   long term  complication   such as reobstruction and fistulae are more     common

PART II:-Longitudinal Vaginal  Septum

Longitudinal vaginal   septa result from a failure    of canalization of   the vaginal plate during embryogenesis .Septa can  be  A) complete  extending  from the  cervix  to the introitus or   they can  be partial  involving   any part of the vagina. They often   present   with dyspareunia   or difficulty inserting    tampons  or they  may even  be diagnosed during   labour. Occasionally one hemivagina may be   obstructed resulting   in regular   menstruation    with a history    of gradually worsening pelvic   pain secondary   to obstructed menstruation. Examination may reveal a unilateral    vaginal wall swelling secondary to hematocolpas. MRI is the imaging modality  of choice   for these   anomalies.) often    a significant   delay in reaching   the correct  diagnosis  and over   half of the patients   underwent unnecessary  investigations’   before appropriate surgery  was performed Obstructed hemivagina   can be associated with    renal anomalies    on the   same side  as the obstruction as in the OHVIRA  (hemivagina and   ipsilateral  renal  anomaly  ) syndrome..Treatment  usually involves  surgical resection of the septum if the girl is symptomatic . The entire  septum must be excised   to avoid   dyspareunia. This can be performed vaginally with low complication rates and good  long term   outcomes   Care must be taken  wit haemostasis   due to the vascular    nature of   the vagina. Dilation is rarely required    following  surgical   resection . Obstructed   hemivaginas   can be surgically more challenging and therefore   should be managed in a center with expertise  in operating on  such   anomalies. A recent    systematic review   has shown the prevalence of uterine anomalies  to be approximately 5.5% in the  general   unselected population . ( Chan YY  Jayaprakasan K, Zamorea J Thornton 3G    Raine Fenning   N Coomarasamy The   prevalence of congenital  uterine   anomalies  in unselected   and high risk population   a systematic   review  Hum  Repord Update ) . this was not    significantly   increased  in women   with recurrent   pregnancy loss and in women   with infertility   associated with recurrent  pregnancy  loss .

PART III::  Cervical agenesis

Congenital absence  of the cervix  is a very rare   anomaly   occurring in 1:80,000  to 1: 100,000 births Presentation    is usually  with  primary   amenorrhoea  and worsening lower    abdominal pain  with or without    a mass    secondary  to  hematometra . It may be difficult to differentiate   from a high transverse   vaginal septum   and the diagnosis    may only be made   during definitive     surgery. It has    been shown   to be associated with vaginal   aplasia in almost   40 %  of cases . Previously treatement   for cervical    agenesis was  a total hysterectomy . However   due to advances in assisted reproduction and   laparoscopic   surgery first line treatment is now   laparoscopic uterovaginal anastomosis  . a uterine catheter   is used   to maintain patency and prevent restenosis. This  has been shown    to be an effective   technique  and a recent   follow up study   of 14 cases    showed that 13   cases were   pain free   with regular menses with one case   resulting in hysterectomy due to  infection  and restenosis. There   have been   spontaneous pregnancies   following  laparoscopic uterovaginal   anastomosis However   as this is a relatively recent   treatment  option in a young   population  longer  follow up  studies   are required to assess the  long term   reproductive outcomes . There have also been   case reports of successful pregnancies following in vitro fertilisation   with  transmyometrial embryo  transfer. However in the event of a miscarriage   management is complex  as the products   of conception   may need to be  removed  laparoscopically

Mileriam abnormalities: Part IV:-Meyer Rokitansky Kuster Hauser syndrome

Mayer  Rokitansky Kuster   Hauser  syndrome develops as a result  of interrupted embryonic development    and failure   of fusion of the mullerian   ducts. It results in hypoplasia of the uterus   and the upper   two thirds  of the vagina. If affects  approximately  one in 4500 live female births (Aittomaki K Eroila  H Kajanoja P.A population based  study  of the incidence  of mullerian   aplasia  in Finland:  Fertil steril ) . Ovarian  function  is usually   normal   therefore   girls  present   during   adolescence  with primary   amenorrhoea  in the presence   of normal   pubertal   development and   secondary    sexual   characteristics . Part V a:: Some  other  Female  Genital Tract  Defects : Va: Cervical Agenesis ::Women   with congenial absence  of the cervix   typically also  lack the upper  vagina.  The uterus   however   usually  develops normally so these  patients   present   primary amenohhroea and cyclic abdominal    or pelvic  pain . Patients   may have   a  distended   uterus   and a high    risk for developing    endometriosis secondary to retrograde   menstrual flow. A single   midline   uterine   fundus is the    most frequent   bilateral   heminuteri are also    described.  .Sonography and MRI are helpful in evaluating uterus  and vagina   clinicians  give different   opinions about the treatment  of an obstructive uterus. Some of  them  recommended  hysterectomy .Someone also    reported a  successful pregnancy  after a zygote   intrafallopian tube transfer  in a patient   with cervical   agenesis 

Part V b::  Cervical  Stenosis:: This may   result  from  congenital  conditions  due to  segmental Mullerian  hypoplasia   or acquired  due to post   operative  conization infection neoplasia   or radiation  Cervical    stenosis    involves    internal    os and  symptoms   include   amenorrhoea   dysmenorrhoea  abnormal   uterine   bleeding and infertility . clinical   examination   and sonography   may help   the diagnosis  . Progressive dilatation of cervical   canal is  recommended in these  cases.

Part V c ::  Ovarian Anomalies :: A supernumerary  ovary is  a rare  gynaecologic   anomaly  characterized by the  presence of a third   ectopic   ovary that   has no connection with   the utero ovarian  ligament  and can be  located   in the pelvis omentum,   mesentry or  retroperitoneum .

But the  term   accessory ovary  is used    when the excessive  ovarian tissue  is placed  near a normally   placed ovary   is connected  to it. Unique ovary   or unilateral ovarian   absence  is also   a rare   anomaly   and present   the absence   of one ovary  with or  without   the absence  of the corresponding fallopian tube. Ovarian    anomalies are mostly  associated  with other   congenital   defects most  frequently  genitourinary  tract   anomalies

Part V d::   Fallopian   tube anomalies ::It is  a very rare   anomaly A limited  number of congenital  and  acquired    defects   of the fallopian   tubes are described  by clinicians. Disease may  be asymptomatic or may be linked   to infertility.

Congenital  tubal   anomalies   include   absence  of one fallopian   tube   accessory   ostia and   embryonic   cystic   remnants  of the   mesonephric duct  

Acquired tubal defects are due to inflammatory changes  of the fallopian   tube tissue  due to infection  tuberculosis   endometriosis  pelvic  surgery   postabortum postpartum infections etc . these  inflammatory    changes   result in proximal   or distal   tubal obstruction causing infertility. Prevalence of renal malformations:-Mullerian defects  are also  associated   with renal anomalies in 30-50% of cases   ranging   from renal   agenesis and   severe   hypoplasia  to ectopic   or duplicate uterus.

Part V e::   Uterine Hypoplasia / Agenesis

These   anomalies are secondary  to partial or   complete   absence of  development  of Mullerian ducts  .  & such anomlies are   frequently associated   with renal   anomalies   . The  incidence is 1: 4 /6000 ( Sarris   I Bewley S Agnihotri  S oxford Specially Training Training  in  obstetrics &   gynaecology . Embryology  of genital tract  2009 : 26. Congenital   uterine and   vaginal   anomalies ) .There  are two  subclasses in this  group

Part V fa :     Complete bilateral agenesis   or complete    type 1 is a rare anomaly   and incompatible with   life  because of associated  bilateral renal   agenesis .

Paqrt V f b ncomplete   bilateral agenseis or incomplete  type 1  is the most common  presentation   of vaginal  atrsia or congenital    absence  of both  the  uterus  and vagina which    is also   referred to as Mullerain  agenesis or aplasia . this syndrome is characterized by   amenorrhoea and absence  of uterus  cervix  and vagina. Sometimes  patients   have a  shallow   vaginal  pouch  measuring up to  1:5   inches deep  . Most  patients   have small mullerian bulbs   without    endometrium   inside but  in 2-75  of cases active endometrium is present    giving   cyclic abdominal pain  and  in those cases  rudimnstary uterus   has to    be removed ( American college  of obstetricians and gynecologists    Non surgical diagnosis   and management  of vaginal  agenesis    ACOG  committee opinion ) . Typically fallopian tubes or a distal portion  of them are present   and normal ovaries   are present because of their separate   embryonic   origin . Normal   ovarian function is associated  with normal   development  of secondary   sexual   characteristics. Approximately 15% of women    with   uterine  agenesis also have  defects of the urinary  system and 12%  may have  scoliosis

Diagnosis  and management

Since more women   with vaginal  atresia have normal  external   genitalia this conditions does  not become apparent until the time of expected menarche , On  physical   examination normal    breast and  pubic hair development are present . The perineum is  usually normal with   normal secondary sex signs  the   hymenal ring   is usually present    and beyond   the ring  a vaginal   dimple or small  pouch. A recto  abdominal   examination confirms the absence  of vagina   and uterus   and the presence    of ovaries.

Ultrasound    is very  useful for excluding or confirming the clinical diagnosis   and studying   the existing  portion    of the vaginal   canal  . MRI is a more     accurate diagnostic  tool   because   we can evaluate the length    of the atresia the presence  of cervix  or   rudimentary uterus    ovaries and associated    urologic abnormalities . Laparoscopy  is also very useful especially   when    ultrasound  or MRI  cannot give   us sufficient    information . IN these patients it is also advisable to study the morphology  volume   and position   of the ovaries  as these   can be    entirely  absent   present  but reduced to fibrous   strands or normal   but in an ectopic   position .

Different    diagnosis   has   to be done between  vaginal    atresia and transverse vaginal  septum. In patients  with transverse vaginal   septum  there is   a well  developed  vaginal  and septum   separates the lower   from the upper  part of the vagina   . On the other side the cervix  uterus    fallopian   tubes and ovaries  are present   and normal

The  main   treatment   goal  for most  of these   women is creation of a functional vagina. This may be  accomplished   conservatively or surgically . The    conservative approaches  attempt    to progressively invaginate  the vaginal   dimple with dilators   or repeated coitus in order to enable   normal    sexual  intercourse Roberts in 2001    and Croak  in 2003   report  a success  rate of 90%  in patients    with vaginal    atresia treated with vaginal  dilatation  techniques. ( Roberts   CP   Haber MJ   Rock JA    vaginal creation   for mullerian agenesis  am   J obstet   Gynecol ) ( Croak AJ1 Gebhart JB  Klingele CJ Lee RA Rayburn WF  Therapeutic   strategies for  vaginal  mullerian agenesis )

Surgical    procedures  are seen as a more   immediate   solution to creation  of a neovagina. Several methods are reported  but the method   used more commonly by gynaecologists is the Mclndoe vaginoplasty With   this   technique    a canal is created  within the  connective tissue   between the bladder  and rectum. ( Mclndoe A The treatment of congenital  absence    and obliterative   conditions  of the vagina ) A  skin graft   obtained  from the patient’s buttock  thigh or inguinal regional  then is wrapped   around a soft  mold or placed in to the newly created vagina to allow  epithelialisation. Alternatively  other   materials  such as amniotic   membrane   myo cutaneous  flaps. Buccal   mucosa  or ethicon absorbable barrier have been used   to line the neovagina. Vaginal   stricture     can be a significant    complication    following   the Mclndoe procedure     so the vaginal   dilatation is mandatory for these  patients. For this reason  surgery  may be  postponed until a patient   has reached  a level   of maturity   for sexual   intercourse.

Arcuate  Uterus

An arcuate   uterus  is a mild   variant  between a normally  developed  and septated  uterus. There is a slight indentation  in the fundus  of the uterus   . The ratio of height  to fundal indentation to the inter  cornual  distance  is less  than 10 %  . Most  of the women   with an  arcuate  uterus  do not  have any  reproductive consequences. Many  clinicians   consider  it as a   normal variation  and do not   recommend   surgical    repair. Conversely  Woelfer  found excessive second   trimester   losses    and preterm labour  in this group. So  surgical  resection is  recommended  only after  excessive  pregnancy  losses  and when other etiologies for recurrent   spontaneous   abortions have   been excluded.