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A Study on Mullerian Duct Anamolies with Specific Mention of Meyer Rokitansky Kuster Hausen Syndrome

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A Study on Mullerian Duct Anamolies with Specific Mention of Meyer Rokitansky Kuster Hausen Syndrome International Journal of Current Medical And Applied Sciences, vol.6. Issue 2, April: 2015. PP: 114-118. A study on Mullerian Duct Anamolies with Specific Mention of Meyer Rokitansky Kuster Hausen Syndrome. Vani Isukapalli*, Venkata Ram Prasad Kuppili** & T.Padmavathi* *Associate professor, Department of Obstetrics & Gynecology, **Associate professor, Department of Anatomy, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India. Corresponding Email ID: [email protected] Research Article Subject: Obstetrics & Gynecology ------------------------------------------------------------------------------------------------------------------- ----------- Abstract: Introduction: Mullerian duct anomalies are multifaceted defects Mullerian duct anomalies are fascinating disorders to involving the development of the female reproductive Obstetricians & Gynaecologists. In females, Mullerian duct system and the renal and skeletal systems to some extent is responsible for the development of fallopian tubes, .Majority of these anomalies are asymptomatic and pass uterus, cervix and the upper part of vagina. Defects in unnoticed. But a few of them are symptomatic and development range from anomalies of agenesis to present with amenorrhea, infertility, bad obstetric duplication and associated anomalies [1,2,3,4] of the history, difficulties in coital activity or pregnancy related renal, axial skeletal or cardiac systems. complications. This report is a review of the 23 patients MDA are classified [5] into the following categories as per with Mullerian duct anomalies who presented to our OPD the AFS classification (Figure 1). between January 2014 to December 2014. It discusses the Segmental Mullerian hypoplasia or agenesis. embryology, various modes of presentation and Unicornuate uterus with or without a rudimentary management with special emphasis on Meyer Rokitansky horn. Kuster Hausen syndrome (MRKH syndrome). Frank Uterine Didelphis dilatation and McIndoe vaginoplasty appear to be the Bicornuate uterus. acceptable means of therapy. The therapeutic success Septate uterus depends to a large extent on the psychosocial adaptation Arcuate uterus of the patient. DES related Key Words: Amenorrhea, Bad obstetric history, Cryptomenorrhoea, Dyspareunia, MDA, Mullerian Duct, MRKH syndrome, Rudimentary horn, vaginal atresia. ------------------------------------------------------------------------- Figure 1: Classification of MDA. Copyright @ 2015 Logic Publications, IJCMAAS,E-ISSN:2321-9335,P-ISSN:2321-9327. Page | 114 Logic Publications @ 2015, IJCMAAS, E-ISSN: 2321-9335,P-ISSN:2321-9327 The clinical presentation of MDA ranges from primary unfused upper ends; the renal system simultaneously amenorrhoea to menstrual irregularities, infertility to develops from the wolffian (mesonephric) ducts. Ovarian pregnancy complications like BOH, ectopic, preterm function is preserved because the ovaries originate within labour etc. Genetics plays a key role in the occurrence of the primitive ectoderm, independent of the MDA. Multifactorial autosomal dominant or autosomal mesonephros.The part of the vagina derived from recessive and X- linked inheritance are described by ectodermal origin is present. various authors for various conditions. Although Mayer-Rokitansky-Kuster-Hauser syndrome Meyer Rokitansky Kustner Hauser Syndrome (Mrkh was previously thought to be a sporadic anomaly, familial Syndrome): cases support the hypothesis of a genetic etiology. MRKH syndrome [6] is a congenital abnormality Although the precise gene has not yet been identified, this characterized by the absence of vagina, cervix and uterus. syndrome appears to be transmitted in an autosomal The reproductive abnormalities of MRKH syndrome are dominant fashion, with incomplete penetrance and due to incomplete development of the Müllerian variable expressivity.GALT (galactose/phosphate uredyl (paramesonephric) duct. The uterus, cervix, and upper transferase enzyme defect) [7], HOXA9, HOXA [8] and two thirds of the vagina form from the fused caudal ends WNT 4 genes are found to be associated with MDA. of the müllerian ducts. Fallopian tubes develop from the Figure 2 : Karyotype of MRKH. Figure 3 : Pre-op MRKH showing a small blind vaginal depression Figure 4 : Septate uterus on 3-D Ultrasound Figure : 5 . HSG of uterine didelphys. Figure : 6. MRI of MRKH Syndrome showing absent uterus. Figure : 7.Laparoscopic picture of bicornuate uterus Copyright @ 2015 Logic Publications, IJCMAAS,E-ISSN:2321-9335,P-ISSN:2321-9327. Logic Publications @ 2015, IJCMAAS, E-ISSN: 2321-9335,P-ISSN:2321-9327 In this condition, individuals are phenotypically & EUA and laparoscopy (Fig.7) with or without genotypically female [9,10,11], with normally developed hysteroscopy was also done in clinically doubtful cases. In secondary sexual characters. Commonest presentation is all the cases, the presentation and interpretation was with primary amenorrhea. thoroughly analyzed. MRKH syndrome can manifest as 3 types. Observations & Results: MRKH typical: Only isolated utero- vaginal Out of the 15009 cases presenting to the OPD, 23 cases aplasia were diagnosed with Mullerian abnormalities and the MRKH atypical: Associated with renal anomalies. following presentations were observed. MR MURCS syndrome: MRKH + Urinary tract + Two patients presenting with amenorrhoea and pain Renal21+ Cardiac + Skeletal malformation abdomen were diagnosed to have cryptomenorrhea. They Prevalence: 1 in 10,000 [12]. had either a partial or complete vaginal atresia with a Treatment approaches are towards creating an artificial functioning uterus. Investigation protocol revealed vagina. Pregnancy is not possible due to absence of the haematocolpos & haematometra. Both the cases were uterus. But through oocyte , the woman can conceive by treated with Mc Indoe‘s vaginoplasty. ART -IVF technique with surrogacy. Four cases had a simple imperforate hymen and typically Materials and Methods: presented with cryptomenorrhoea, cyclical pain abdomen This study was conducted during the period January 2014 and a palpable uterus per abdomen. They were tackled to December 2014, wherein 15009 patients presented to with a cruciate incision over the bluish bulging the Department of Gynecology OPD, King George Hospital, membranes at the vaginal introitus. Visakhapatnam, Andhra Pradesh. The presentation of Two cases had complete transverse vaginal septae and patients to the Gynecology is with varied symptoms. A required septal excision. detailed screening of these cases for developmental Major group in the series presented with either infertility anomalies was done based on a detailed history including or bad Obstetric history. Only the cases with septate or a family history followed by a thorough clinical sub septate uterus could be surgically managed with examination along with pedigree charting. Cases septal excision. Rests of the other uterine anomalies were presenting with the same symptoms but due to various not amenable to surgical correction. pathological causes other than developmental defects Two cases in this group had a unicornuate uterus[18,19] were excluded from the study. A total number of 23 cases rudimentary horn and both presented with acute with Mullerian duct anomalies were identified. symptoms, one presenting with ruptured ectopic in a Ultrasound scan [13,14,15] of total abdomen (Figure 4) rudimentary horn with intra peritoneal haemorrhage and was performed on all the patients. Karyotyping (Figure 2), MR imaging [16.17] (Figure 6) and Intravenous the other with acute pain following failure of all pyelography, were done in relevant cases. Patients induction methods to terminate a mid trimester intra presenting with infertility in specific were subjected to uterine fetal death. HSG (Figure 5). Table 1: Showing the presentation of Mullerian duct anomalies: [15009 patients] S.No PRESENTATION CAUSE No. of Cases Percentage out of 15009 patients, 1. Amenorrhea or a. Imperforate Hymen 4 0.026% Cryptomenorrhoea b.Vaginal Atresia 2 0.013% c. Transverse Vaginal septum 2 0.013% d. MRKH Syndrome 2 0.013% 2. Infertility or BOH a. Uterine Didelphys 1 0.006% b.Bicornuate Uterus 2 0.013% c.Septate/ Subseptate uterus. 3 0.019% d. Unicornuate uterus with 2 0.013% rudimentary horn. 3. Difficulty during 2 0.013% coitus. b. Vaginal septum 2 0.013% 4. Difficulty during 1 0.006% Parturition 5. Abnormal uterine 1 0.006% bleeding. Total 23 0.153% Copyright @ 2015 Logic Publications, IJCMAAS,E-ISSN:2321-9335,P-ISSN:2321-9327. Page | 116 Vani Isukapalli, Venkata Ram Prasad Kuppili & T.Padmavathi Table.2. Details of surgical procedures: PROCEDURE No. of Percentage out of 4622 cases Admitted patients Mc Indoe’s Vaginoplasty 2 0.043% Vaginal Septum Excision 4 0,086% Uterine Septum Excision 2 0.043% Imperforate Hymen Incision 4 0,086% Rudimentary Horn Excision 2 0.043% Total 14 0.302% Discussion: In the present study as there were no DES exposed cases causing MDA, the involvement of DES in MDA in this The presentation of patients to the gynecological OPD is present era becomes a remote possibility. with varied symptoms, in which developmental anomalies of the Mullerian duct [20,21] need due Conclusion: consideration as they constitute 0.5 % of all gynecological admissions. The presentation of MDAs in the present MDA are not uncommon. Individuals present clinically at study show that majority present with infertility, various stages of life, with a variety of presentations. followed by a bad obstetric history in which Mullerian Thorough history, clinical examination
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