{"paper_id":"9de34ccf-b6b8-4794-af3f-f93930cb7ef5","body_text":"C A S E R E P O R T Open Access\nUnicornuate uterus with a rudimentary\nnon-communicating cavitary horn in\nassociation with VACTERL association: case\nreport\nRawan A. Obeidat 1* , Abdelwahab J. Aleshawi 2, Nour A. Tashtush 3 and Haya Alsarawi 1\nAbstract\nBackground: The unicornuate uterus is caused by abnormal or failed development of one Müllerian duct.\nUnicornuate uteri with functioning non-communicating rudimentary horns are susceptible to many gynaecologic\nand obstetric complications such as hematometra, endometriosis and ectopic pregnancy and thus surgical\nresection is usually recommended..\nCase presentation: We report a rare case of a unicornuate right uterus with rudimentary non-communicating\n(functional) cavitary left horn (class U4a) in a 17-year-old girl who was diagnosed with VACTERL association. She\nwas presented to our centre with 3 years history of secondary sever dysmenorrhea. Pelvic magnetic resonance\nimaging revealed a normal uterus on the right side, a 7 × 8 cm left endometrioma, a tortuous dilated fluid-filled\nstructure in the left hemipelvis, mostly represented left-sided hematosalpinx, and a well-defined lesion with thick\nenhancing wall in the left hemipelvis measuring 6.7 × 5.7 × 5.6 cm with a similar enhancement to the uterus in the\nright. She underwent laparotomy that showed a right unicornuate uterus with a normal cervix and a rudimentary\nnon-communicating distended left horn. In addition, there was a left endometrioma and left hematosalpinx.\nResection of the left communicating horn, left salpingectomy and left ovarian cystectomy were performed. The\nright tube and both ovaries were preserved. At 9-months follow up, the patient had a regular period and the pain\nsubsided completely.\nConclusion: We report yet the second case of VACTERL association and unicornuate uterus with non-\ncommunicating functional rudimentary horn, in hope of expanding the knowledge of a rare occurrence. This case\nalso highlights the importance of considering the diagnosis of Müllerian duct anomalies in patients with a history\nof other anomalies, and/or history of early-age secondary dysmenorrhea.\nKeywords: Imperforate anus, Müllerian duct, Secondary dysmenorrhea, Unicornuate uterus, VACTERL association\nBackground\nThe true incidence of Müllerian duct anomalies (MDAs) are\nbelieved to be between 0.1 and 3.8% [ 1]. Although its inci-\ndence may be as high as 25% in women with recurrent mis-\ncarriages and subfertility [2]. MDAs are congenital anatomic\nabnormalities of the female genital tract that arise from non-\ndevelopment or nonfusion of the Müllerian ducts or failed\nresorption of the uterine septum [3, 4]. MDAs may lead to\nsymptoms such as pelvic pain, dysmenorrhea, abnormal\nbleeding at the time of menarche, recurrent pregnancy loss,\nand/or premature delivery [4]. Patients with MDAs are at in-\ncreased risk of having renal, skeletal, or abdominal wall ab-\nnormalities [5]; these abnormalities should also be identified\nand documented.\nThe European Society of Human Reproduction and Em-\nbryology (ESHRE) and the European Society for Gynaeco-\nlogical Endoscopy (ESGE) classification system for female\ngenital malformations organizes uterine anomalies into six\n© The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0\nInternational License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and\nreproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to\nthe Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver\n(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.\n* Correspondence: rawanahmadobeidat@yahoo.com; raobeidat3@just.edu.jo\n1Department of Obstetrics & Gynecology, Faculty of Medicine, Jordan\nUniversity of Science & Technology, Irbid, Jordan\nFull list of author information is available at the end of the article\nObeidat et al. BMC Women's Health           (2019) 19:71 \nhttps://doi.org/10.1186/s12905-019-0768-4\n\nmain classes: Class U0 involves all cases with a normal\nuterus. Class U1 or dysmorphic uterus incorporates all\ncases with a normal uterine outline but with an abnormal\nshape endometrial cavity excluding septa. Septate uterus is\nthe class U2 anomaly. Class U3 or bicorporeal uterus\ncomprises all cases of fusion defects. Class U4 or\nhemi-uterus includes all cases of the unilateral formed\nuterus. Class U5 or aplastic uterus incorporates all cases\nof uterine aplasia. Class U6 is kept for still unclassified\ncases. Cervical and vaginal anomalies are classified in in-\ndependent supplementary sub-classes [6].\nWe report a rare case of a unicornuate right uterus with\nrudimentary non-communicating (functional) cavitary left\nhorn (class U4a) in link with (Vertebral defects, Anal atresia,\nCardiac defects, Tracheo-Esophageal fistula, Renal anomalies,\nand Limb abnormalities) VACTERL association.\nCase presentation\nA 17-year-old girl; a known case of a repaired high im-\nperforate anus, repaired type-C tracheoesophageal mal-\nformation, and left renal agenesis; presented to King\nAbdullah University Hospital (KAUH) complaining of\ndysmenorrhea for 3 years duration. She was 14-year-old\nwhen she had her menarche. The menstrual cycle was ir-\nregular and associated with severe dysmenorrhea. She had\nthe dysmenorrhea 4 days before the period, during the period\nand lasted 1 week after. The pain was slightly relieved by an-\nalgesics. The complaint was associated with vomiting, an-\norexia, and general fatigability. Prior medical and surgical\nhistory included two-steps primary anoplasty repair for im-\nperforate anus which involved a temporary colostomy cre-\nation followed by posterior sagittal anorectoplasty. The\ntracheoesophageal fistula was repaired by resection of the fis-\ntula and anastomosis of the esophageal limbs. Examination\nrevealed abdominal mass and tenderness.\nLaboratory investigations were conducted and revealed el-\nevated levels of cancer antigen 125 (CA 125) (241 U/ml) and\nCA 19 –9 (67 U/ml). Other tests including complete blood\ncount, kidney function test, CA 15.3, alpha-fetoprotein, lac-\ntate dehydrogenase, and human chorionic gonadotropin\n(hCG) were all within normal levels. Also, urinalysis and cul-\nture disclosed no abnormalities.\nAbdominal and pelvic ultrasound was performed and\nshowed a thick-wall left pelvic mass measuring 6 × 6 cm\nand another 7 × 8 cm left pelvic mass mostly endome-\ntrioma. Renal ultrasound confirmed the solitary right\nkidney with compensatory hypertrophy. Pelvic magnetic\nresonance imaging (MRI) revealed a normal uterus on\nthe right side, a normal right ovary, a 7 × 8 cm left endo-\nmetrioma, a tortuous dilated fluid-filled structure in the\nleft hemipelvis mostly represented left-sided hematosal-\npinx, and a well-defined lesion with thick enhancing wall\nin the left hemipelvis measuring 6.7 × 5.7 × 5.6 cm with\nsimilar enhancement to the uterus in the right\nsuggestive of MDA probably double uterus obstructed\non the left side with large hematometra. (Figs. 1 and 2).\nInitially the patient had diagn ostic laparoscopy using the\nopen technique, however, the patient had extensive adhe-\nsions and thus laparotomy with adhesiolysis was performed.\nAt laparotomy, there was a right unicornuate uterus with a\nnormal cervix and a non-communicating distended left rudi-\nmentary horn. Additionally, there was a left hematosalpinx\nof the left tube which was connected to the left horn, and a\nleft endometrioma. The right ovary and tube looked normal.\nThe single right ureter was also identified. The left\nnon-communicating horn was resected. In addition, left sal-\npingectomy and left ovarian cystectomy were performed.\nThe right uterus and both ovaries were preserved. The diag-\nnosis of class U4a uterine anomaly (unicornuate right uterus\nwith rudimentary non-communicating cavitary left horn)\nwas established (Fig. 3). No intraoperative or immediate\npostoperative complications were detected. The patient was\ndischarged on the fourth posto perative day. Histopatho-\nlogical examination of the specimen was reported as uterine\nrudimentary horn with unremarkable myometrium and\nsecretory endometrium, and left endometriotic cyst. At 9\nmonths follow up, the patient had regular menstrual cycles\nand the pain subsided completely.\nDiscussion and conclusion\nIn embryological development, the Müllerian (or parameso-\nnephric) ducts are first identifiable at 5 –6 weeks gestation\nwhen they begin to grow mediocaudally toward the urogeni-\ntal sinus. The cranial vertical part and the mid horizontal\npart of each duct develop into fimbria and fallopian tube\nwhile the caudal part of the duct conjoins in the midlines\nwith its contralateral side to create uterovaginal canal that\nwill develop to the uterus, cervix, and upper vagina. Initially,\nthe two Müllerian ducts are composed of solid tissue, and\nthen internal canalization of each duct produces two canals\nseparated by a septum that is usually regressed at around 20\nweeks. The uterine endometrium is derived from the lining\nFig. 1 Pelvic magnetic resonance imaging: T2 signal magnetic\nresonance imaging indicated the presence of left hematometra with\nsmall right uterus. Both ovaries were demonstrated\nObeidat et al. BMC Women's Health           (2019) 19:71 Page 2 of 5\n\nof the fused Müllerian ducts, whereas the endometrial\nstroma and myometrium are derived from adjacent mesen-\nchyme [7–9].\nEmbryologically, the urinary system and the genital system\nare closely linked. Both develop from the intermediate meso-\nderm along the posterior wall of the abdominal cavity, and ini-\ntially, the excretory ducts of both systems enter a common\ncavity, the cloaca. Three slightly overlapping kidney systems\nare formed in a cranial-to-caudal sequence during intrauterine\nlife in humans: the pronephros and mesonephros which are\ntransitory structures but critical to the development of the\nmetanephros. The paired mesonephric ducts drain the meso-\nnephros into the cloaca and are necessary for lower vaginal\nformation. The permanent kidneys develop from two sources;\nthe ureteric bud and the metanephrogenic blastema. The ur-\neteric bud is a diverticulum from the mesonephric duct near\nits entrance into the cloaca and it is the primordium of the ur-\neter, renal pelvis, calices, and collecting tubules [7, 9].\nDuring the fourth to seventh weeks of development,\nthe cloaca divides into the urogenital sinus anteriorly\nand the anal canal posteriorly. The urogenital sinus gives\nrise to lower vagina, bladder (except trigon) and urethra.\nThe trigone is derived from the caudal ends of the meso-\nnephric ducts. The ovaries develop from primitive germ\ncells, mesothelium of the posterior abdominal wall and\nadjacent mesenchyme and are independent of Müllerian\nduct differentiation. Therefore, the ovaries are usually\nnormal in a patient with MDAs [ 7–9].\nThe unicornuate uterus (Class U4) is a result of abnor-\nmal or failed development of one Müllerian duct. It ac-\ncounts for approximately 2.4 –13% of all Müllerian\nanomalies [10] and is divided into two sub-classes depend-\ning on the presence or not of a functional rudimentary\ncavity. Class U4a or hemi-uterus with a rudimentary\n(functional) cavity characterized by the presence of a com-\nmunicating or non-communicating functional contralat-\neral horn. Class U4b or hemi-uterus without rudimentary\n(functional) cavity characterized either by the presence of\nnon-functional contralateral uterine horn or by aplasia of\nthe contralateral part [6].\nClinically, non-communicating rudimentary horns with\nfunctional endometrium are the most significant subtype.\nThe correct diagnosis of this entity has important clinical\nimplications as they are likely to be associated with dys-\nmenorrhea and pelvic pain from haematometra or from\nendometriosis due to retrograde menstruation [ 11]. Fur-\nthermore, pregnancies in these rudimentary horns can\noccur following transperitoneal migration of sperm or\nzygote and generally will result in a life-threatening uter-\nine rupture [ 12]. Whenever diagnosed, surgical excision\n(preferably laparoscopic) of the functional rudimentary\nhorn is recommended even if the horn is communicating.\nThe acronym VATER association was first described\nby Quan which followed by the acronym VACTERL de-\nscribed by Baumann [ 13, 14]. This association comprises\na group of birth defects which tend to co-occur. These\ndefects are vertebral anomalies, anorectal malformations,\ncardiovascular anomalies, tracheoesophageal fistula,\nesophageal atresia, renal anomalies, and limb defects\n[13, 14]. The presence of at least three of the aforemen-\ntioned anomalies is diagnostic for VACTERL association\n[14]. In the presenting case, the patient was born with\nimperforate anus, tracheoesophageal fistula, esophageal\natresia, and left renal agenesis.\nFig. 2 Pelvic magnetic resonance imaging: T2 signal magnetic\nresonance imaging indicated the presence of left endometrioma\nabove the hematometra\nFig. 3 a, b, c Intraoperative findings of large congested left rudimentary non-communicating cavitary horn with right unicornuate uterus\nObeidat et al. BMC Women's Health           (2019) 19:71 Page 3 of 5\n\nTo our knowledge, this is the second documented case\ndescribes a VACTERL association with the coexistence\nof unicornuate uterus with a non-communicating rudi-\nmentary functional horn. Nunes et al. reported the first\ncase in a 28-year-old nullipara female known to have a\nmissing vertebra, imperforate anus, anovaginal fistula,\nright renal agenesis, and an extra digit on one hand [ 5].\nShe had a regular cycle since menarche at age 15. She\npresented with a 6-month history of progressive consti-\npation and sciatica followed by acute urinary retention\nwhich was revealed to be due to hematometra/hemato-\nsalpinx of a non-communicating right uterine horn and\nfallopian tube [ 5]. Jessel et al. described a case of distal\nvaginal agenesis and right unicornuate uterus with left\nnon-obstructed rudimentary horn in a 14-year-old girl\nwith a known history of VACTERL association and\nrepaired imperforate anus [ 15].\nHeinonen reported no VACTERL association in his series\nwith 42 cases of unicornuate uteri [ 16]. Heinonen reported\nt h ep r e s e n c eo fK i d n e ya b n o r m alities, bony anomalies, audi-\ntory defect, Hirschsprung’s disease, an absence of the gall-\nbladder, and annular pancreas [16].\nTo finish, the development of the urinary system is closely\nrelated to the genital tract and anomalies of these organs are\noften coexisting. Less commonly, MDAs may coexist with\ndevelopmental anomalies of the distal gastrointestinal tract\nparticularly cloaca anomaly [17]. A retrospective study of fe-\nmale patients treated for imperforate anus revealed that pri-\nm a r yv a g i n a la n o m a l i e so c c u r r e di n2 2o f7 2( 3 2 % )p a t i e n t s\nassessed, and uterine anomalies occurred in 18 of 51 (35%)\npatients assessed. A bicornuate uterus and uterus didelphys\nwere the most common abnormalities [18]. In our case, and\nthe case described by Nunes et al., the patients had a unicor-\nnuate uterus with rudimentary horn and the diagnosis of\nMDAs was not recognized until they develop symptoms\nlater. Hence, it is important that an experienced gynaecolo-\ngist is involved at an early stage in the care of female infants\nwith anorectal malformations.\nWe report yet the second case of VACTERL association\nand a unicornuate uterus with non-communicating func-\ntional rudimentary horn, in hope of expanding the know-\nledge of a rare occurrence. This case also highlights the\nimportance of considering the diagnosis of MDAs in patients\nwith a history of other anomalies, and/or history of early-age\nsecondary dysmenorrhea.\nAbbreviations\nCA: cancer antigen; MDAs: Müllerian duct anomalies; VACTERL: Vertebral\ndefects, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal anom-\nalies, and Limb abnormalities\nAcknowledgments\nNot applicable.\nFunding\nNot applicable.\nAvailability of data and materials\nData sharing does not apply to this article as no datasets were generated or\nanalyzed during the current study.\nAuthors’ contributions\nRO: performed diagnosis, clinical follow-up, therapeutic management, critical\nrevision of the manuscript for intellectual content. AA, NT, and HA: designed\nthe Manuscript, added critical revision for intellectual content and analyze\nthe figures. All authors have read and approved the final manuscript.\nEthics approval and consent to participate\nNot applicable.\nConsent for publication\nWritten informed consent was obtained from the patient ’s parent for\npublication of this Case report and any accompanying images. A copy of the\nwritten consent is available for review by the Editor of this journal .\nCompeting interests\nThe authors declare that they have no competing interests.\nPublisher’sN o t e\nSpringer Nature remains neutral with regard to jurisdictional claims in\npublished maps and institutional affiliations.\nAuthor details\n1Department of Obstetrics & Gynecology, Faculty of Medicine, Jordan\nUniversity of Science & Technology, Irbid, Jordan. 2Department of General\nSurgery, Faculty of Medicine, Jordan University of Science & Technology,\nIrbid, Jordan. 3Department Pediatrics and Neonatology, Faculty of Medicine,\nJordan University of Science & Technology, Irbid 22110, Jordan.\nReceived: 9 January 2019 Accepted: 14 May 2019\nReferences\n1. Gidwani G, Falcone T. Congenital malformations of the female genital tract:\ndiagnosis and management. Philadelphia: Lippincott Williams and Wilkins; 1999.\n2. Saravelos SH, Cocksedge KA, Li T-C. Prevalence and diagnosis of congenital\nuterine anomalies in women with reproductive failure: a critical appraisal.\nHum Reprod Update. 2008;14(5):415 –29.\n3. Nahum GG. Uterine anomalies. How common are they, and what is their\ndistribution among subtypes? The Journal of reproductive medicine. 1998;\n43(10):877–87.\n4. Stampe SS. Estimated prevalence of müllerian anomalies. Acta Obstet\nGynecol Scand. 1988;67(5):441 –5.\n5. Nunes N, Karandikar S, Cooper S, Jaganat han R, Irani S. VATER/VACTERL syndrome\n(vertebra/anus/cardiac/trachea/esophogus/radius/renal/limb anomalies) with a\nnoncommunicating functioning uterine horn and a unicornuate uterus: a case\nreport. Fertility and sterility. 2009;91(5):1957. e1911–2.\n6. Grimbizis GF, Gordts S, Di Spiezio Sardo A, et al. The ESHRE/ESGE consensus\non the classification of female genital tract congenital anomalies. Hum\nReprod. 2013;28(8):2032–44.\n7. Sadler TW. Langman ’s medical embryology. Philadelphia: Lippincott Williams\n& Wilkins; 2011.\n8. Robboy SJ, Taguchi O, Cunha GR. Normal development of the human\nfemale reproductive tract and alterations resulting from experimental\nexposure to diethylstilbestrol. Hum Pathol. 1982;13(3):190 –8.\n9. Moore KL, Persaud TVN, Torchia MG. Before we are born: essentials of\nembryology and birth defects. Philadelphia: Elsevier Health Sciences; 2015.\n10. Grimbizis GF, Camus M, Tarlatzis BC, Bontis JN, Devroey P. Clinical\nimplications of uterine malformations and hysteroscopic treatment results.\nHum Reprod Update. 2001;7(2):161 –74.\n11. Markham SM, Waterhouse TB. Structural anomalies of the reproductive tract.\nCurrent opinion in obstetrics & gynecology. 1992;4(6):867-873.\n12. Kadir R, Hart J, Nagele F, O'Connor H, Magos A. Laparoscopic excision of a\nnoncommunicating rudimentary uterine horn. BJOG Int J Obstet Gynaecol.\n1996;103(4):371–2.\n13. Quan L, Smith DW. The VATER association:-vertebral defects,-anal atresia,-T-\nEfistula with esophageal atresia,-radial and-renal dysplasia: a spectrum of\nassociated defects. J Pediatr. 1973;82(1):104 –7.\nObeidat et al. BMC Women's Health           (2019) 19:71 Page 4 of 5\n\n14. Baumann W, Greinacher I, Emmrich P, Spranger J. Vater or vacterl syndrome\n(author's transl). Klinische Padiatrie. 1976;188(4):328 –37.\n15. Jessel RH, Laufer MR. Management of lower vaginal agenesis in a patient\nwith unicornuate uterus. J Pediatr Adolesc Gynecol. 2013;26(1):e21 –3.\n16. Heinonen PK. Unicornuate uterus and rudimentary horn. Fertil Steril. 1997;\n68(2):224–30.\n17. Pradhan S, Vilanova-Sanchez A, McCracken KA, et al. The Mullerian black\nbox: predicting and defining Mullerian anatomy in patients with cloacal\nabnormalities and the need for longitudinal assessment. J Pediatr Surg.\n2018;53(11):2164–9.\n18. Hall R, Fleming S, Gysler M, McLorie G. The genital tract in female children\nwith imperforate anus. Am J Obstet Gynecol. 1985;151(2):169 –71.\nObeidat et al. BMC Women's Health           (2019) 19:71 Page 5 of 5","source_license":"CC0","license_restricted":false}