www.edoriumjournals.com

CASE REPORT PEER REVIEWED | OPEN ACCESS

Complete urogenital and colonic duplication: An extremely rare developmental anomaly in an adult female

Aarti Deenadayal Tolani, Deenadayal Mamta, Kadambari, Nori Vijay Bhasker

ABSTRACT Complete urogenital duplication is an extremely rare congenital syndrome, where the etiology is unambiguously not explained. Misexpression of certain genes and teratogenic factors are presumed to have a prominent effect on duplications and malformations at various stages during embryogenesis. Several cases have been reported on gastrointestinal and genitourinary duplication. However, no two cases described in literature are alike and they differ with the level of duplication and the associated anomalies. Interestingly, most of the cases reported are at infancy and adult caudal duplication syndrome (CDS) cases are exceptional. Herein, we report a case of a 36-year-old unmarried female with duplication of external genitalia associated with duplication of the genitourinary and colonic system. Imaging revealed associated skeletal and spinal anomalies. Patient did not have any reconstruction surgeries previously and consulted us regarding the possibility of intercourse and fertility. The extent of urogenital duplication and associated anomalies was delineated with help of X-ray, abdominal and trans-perennial ultrasound and magnetic resonance imaging (MRI).

International Journal of Case Reports and Images (IJCRI) International Journal of Case Reports and Images (IJCRI) is an international, peer reviewed, monthly, open access, online journal, publishing high-quality, articles in all areas of basic medical sciences and clinical specialties.

Aim of IJCRI is to encourage the publication of new information by providing a platform for reporting of unique, unusual and rare cases which enhance understanding of disease process, its diagnosis, management and clinico-pathologic correlations.

IJCRI publishes Review Articles, Case Series, Case Reports, Case in Images, Clinical Images and Letters to Editor.

Website: www.ijcasereportsandimages.com

(This page in not part of the published article.) Int J Case Rep Images 2017;8(5):344–347. Tolani et al. 344 www.ijcasereportsandimages.com

CASE REPORT PEER REVIEWED | OPEN ACCESS Complete urogenital and colonic duplication: An extremely rare developmental anomaly in an adult female

Aarti Deenadayal Tolani, Deenadayal Mamta, Kadambari, Nori Vijay Bhasker

ABSTRACT have any reconstruction surgeries previously and consulted us regarding the possibility Complete urogenital duplication is an extremely of intercourse and fertility. The extent of rare congenital syndrome, where the etiology is urogenital duplication and associated anomalies unambiguously not explained. Misexpression was delineated with help of X-ray, abdominal of certain genes and teratogenic factors are and trans-perennial ultrasound and magnetic presumed to have a prominent effect on resonance imaging (MRI). duplications and malformations at various stages during embryogenesis. Several cases have been Keywords: Caudal duplication syndrome (CDS), reported on gastrointestinal and genitourinary Developmental anomalies, Duplication of exter- duplication. However, no two cases described in nal genitalia, Genitourinary and colonic duplica- literature are alike and they differ with the level tion of duplication and the associated anomalies. Interestingly, most of the cases reported are at How to cite this article infancy and adult caudal duplication syndrome (CDS) cases are exceptional. Herein, we report Tolani AD, Mamta D, Kadambari, Bhasker NV. a case of a 36-year-old unmarried female with Complete urogenital and colonic duplication: An duplication of external genitalia associated extremely rare developmental anomaly in an adult with duplication of the genitourinary and female. Int J Case Rep Images 2017;8(5):344–347. colonic system. Imaging revealed associated skeletal and spinal anomalies. Patient did not Article ID: Z01201705CR10799AT

Aarti Deenadayal Tolani1, Deenadayal Mamta2, Kadam- ********* 3 4 bari , Nori Vijay Bhasker doi:10.5348/ijcri-201760-CR-10799 Affiliations: 1M.S, Infertility specialist and embryologist, Infer- tility Institute and Research Centre, Hyderabad, Telangana, India; 2MD, DGO, Clinical director, Infertility Institute and Re- search Centre, Hyderabad, Telangana, India,; 3MD, DGO, FICOG, Obstetrician and Gynaecologist, Micro surgeon, INTRODUCTION Infertility Institute and Research Centre, Hyderabad, Tel- angana, India, 4MD, Chief Radiologist, Vista imaging centre, Caudal duplication syndrome (CDS) is a very rare Hyderabad, Telangana, India. congenital abnormality that is associated with duplication Corresponding Author: Dr. Aarti Deenadayal Tolani, Infertil- and malformation of caudal structures comprising of the ity specialist and embryologist, Infertility Institute and Re- spine, the spinal cord, gastrointestinal and urogenital search Centre, 91-1-192, St Mary’s road, Opp. Prashanth systems [1]. The etiology of CDS is not completely theatre,Secunderabad, 500003, Telangana, India; Email: understood. However, it is assumed that misexpression [email protected], [email protected] of HOX genes encoding for the transcription factors that regulate the developmental process may have a prominent role in it [2]. The prevalence of this syndrome is less Received: 25 January 2017 than 1 in 100,000 births and adulthood CDS reports are Accepted: 14 February 2017 extremely rare. In this article, we present an adult female Published: 01 May 2017 with caudal duplication syndrome.

International Journal of Case Reports and Images, Vol. 8 No. 5, May 2017. ISSN – [0976-3198] Int J Case Rep Images 2017;8(5):344–347. Tolani et al. 345 www.ijcasereportsandimages.com

CASE REPORT

A 36-year old unmarried woman approached our clinic for evaluation of external genital malformation and possibility of intercourse in the future. A detailed physical examination revealed a double vulva with a 15- cm intervening area comprising of a pad of fat covered by hairless skin. Each vulva had pubic hair, a separate clitoris, , and anal orifice (Figure 1). The patient gave a history of passing two separate streams of urine during micturition, dual passage of feces from both anal orifices and menstruating through both the . She had an absent pubic symphysis and a non-surgical irregular scar on her lower abdomen (Figure 1) and there was no umbilicus. Trans-abdominal pelvic sonography showed the presence of two separate bladders, two uteri and multiple follicles in both the ovaries. Two kidneys and two along with colonic duplication with two separate rectums were observed. Figure 1: External genitalia duplication Double vulva with Magnetic resonance imaging (MRI) scan (Wipro GE separate urethra, vagina and anal orifice. OPTIMA 360 advance 1.5 TESLA) results demonstrated normal kidneys, liver, gallbladder, biliary tract, pancreas, spleen, aorta, inferior vena cava, adrenals, mesentery and omentum. A single esophagus, stomach, duodenum and proximal small bowel with evidence of congenital duplication of the colon from the ileocecal junction ending in 2 separate ani were observed in MRI scan. It also showed duplicated bladders, vagina, uteri with double and ovaries (Figure 2). Fibroids were noted Figure 2: Magnetic resonance imaging scan (coronal plane) in both the uteri, of which the one in the left is images showing duplication of , cervix and larger (Figure 3). The distal sacrum showed partial rectum. UB: Urinary bladder; CX: Cervix, R: Rectum. agenesis. Ascites or abdominal lymphadenopathy was not observed. We also observed a clear tethering of the spinal cord with low insertion, dural ectasia in the lumbosacral spine and a split dural sac at sacral level and segmentation abnormalities of the lower dorsal vertebra. Normal levels of FSH, TSH and prolactin were noted during the blood workup. Renal function test was normal.

DISCUSSION

Caudal duplication syndrome typically consists of a combination of several rare malformations and duplications of the distal organs derived from the hindgut, neural tube and caudal mesoderm. Although the specific reasons for caudal duplication are not well-known, it is presumed that an incomplete separation of monovular twins would be the one of the reasons. It is also believed that the impact of genetic, environmental and teratogenic factors influence the duplication of the embryonic and notochord at various levels during embryogenesis. Even though caudal duplication syndrome is a rare condition, majority of the cases reported are soon after the birth. Reports on asymptomatic urogenital Figure 3: Magnetic resonance imaging scan showing the duplication in adulthood are uncommon. Early detection duplicated uterus with fibroids in both the uteri. Left uterus has of malformation and duplication of organs may increase larger fibroid. UT: Uterus, FIB: Fibroid.

International Journal of Case Reports and Images, Vol. 8 No. 5, May 2017. ISSN – [0976-3198] Int J Case Rep Images 2017;8(5):344–347. Tolani et al. 346 www.ijcasereportsandimages.com the chances of successful corrections, especially in cases interpretation of data, Revising it critically for important of urogeneital duplications. A study by Greenberg et al. intellectual content, Final approval of the version to be (1997) [3] showed successful vaginal delivery of a patient published where the cloacal malformation was repaired at infant Kadambari – Substantial contributions to conception stage. Very few cases of complete urogenital duplication and design, Drafting the article, Revising it critically in an adult are reported all around the world till date for important intellectual content, Final approval of the [4]. In this repot, we presented a 36-year-old unmarried version to be published female with non-symptomatic complete external and Vijay Bhasker – Substantial contributions to conception internal duplication of the urogenital system with and design, Acquisition of data, Analysis and fibroids developing in both the uterus. We delineated interpretation of data, Revising it critically for important the extent of the colonic, genitourinary and skeletal intellectual content, Final approval of the version to be anomalies by using multimodal imaging. Duplication published of the external genitalia in this particular case is highly unique with internal urogenital doubling and skeletal Guarantor anomalies. While reconstructive genitourinary surgeries The corresponding author is the guarantor of submission. are performed to prevent complication and address the fertility. In this particular case, although the reproductive Conflict of Interest physiology, menstruation and gonadotropin levels are Authors declare no conflict of interest. normal, due to the abnormal urogenital anatomy it is difficult to anticipate normal coitus. However, there has Copyright been case report published of successful cesarean delivery © 2017 Aarthi Deenadayal Tolani et al. This article of an adult woman with duplication of the urogenital is distributed under the terms of Creative Commons system [5, 6]. As the fibroids are asymptomatic patient Attribution License which permits unrestricted use, was not advised any treatment. Since both the uterus has distribution and reproduction in any medium provided fibroids, this case raises the interesting possibilities of an the original author(s) and original publisher are properly association of the development of fibroids in anomalous credited. Please see the copyright policy on the journal uterus. website for more information.

REFERENCES CONCLUSION 1. Dominguez R, Rott J, Castillo M, Pittaluga RR, It is beneficial to diagnose of malformations and Corriere JN Jr. Caudal duplication syndrome. Am J duplications of caudal structures in infancy to allow Dis Child 1993 Oct;147(10):1048–52. possible early surgical correction. Improved non-invasive 2. Sur A, Sardar SK, Paria A. Caudal duplication imaging as seen here has opened an era of new possibilities syndrome. J Clin Neonatol. 2013 Apr;2(2):101–2. 3. Greenberg JA, Hendren WH. Vaginal delivery after for diagnosing, delineating and monitoring such complex cloacal malformation repair. Obstet Gynecol 1997 anomalies both in childhood and adulthood for better Oct;90(4 Pt 2):666–7. treatment strategies in the future. 4. Shah KR, Joshi A. Complete genitourinary and colonic duplication: A rare presentation in an adult patient. J ********* Ultrasound Med 2006 Mar;25(3):407–11. 5. Richman TS, Taylor KJ. Sonographic demonstration Acknowledgements of bladder duplication. AJR Am J Roentgenol 1982 We would like to acknowledge Suhasini Donthi for her Sep;139(3):604–5. assistance in draft preparation. We acknowledge the 6. Ragab O, Landay M, Shriki J. Complete cloacal duplication imaged before and during pregnancy. J technicians at IIRC and Vista imaging technologies for Radiol Case Rep 2009;3(11):24–8. their assistance

Author Contributions Aarthi Deenadayal Tolani – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Dr. Mamta Deenadayal – Substantial contributions to conception and design, Acquisition of data, Analysis and

International Journal of Case Reports and Images, Vol. 8 No. 5, May 2017. ISSN – [0976-3198] Int J Case Rep Images 2017;8(5):344–347. Tolani et al. 347 www.ijcasereportsandimages.com

Access full text article on Access PDF of article on other devices other devices

International Journal of Case Reports and Images, Vol. 8 No. 5, May 2017. ISSN – [0976-3198] Edorium Journals Edorium Journals et al. www.edoriumjournals.com

EDORIUM JOURNALS AN INTRODUCTION Edorium Journals: An introduction

Edorium Journals Team

About Edorium Journals Our Commitment Edorium Journals is a publisher of high-quality, open ac- Six weeks cess, international scholarly journals covering subjects in You will get first decision on your manuscript within six basic sciences and clinical specialties and subspecialties. weeks (42 days) of submission. If we fail to honor this by even one day, we will publish your manuscript free Invitation for article submission of charge.* We sincerely invite you to submit your valuable research for publication to Edorium Journals. Four weeks After we receive page proofs, your manuscript will be published in the journal within four weeks (31 days). But why should you publish with Edorium If we fail to honor this by even one day, we will pub- Journals? lish your manuscript free of charge and refund you the full article publication charges you paid for your In less than 10 words - we give you what no one does. manuscript.* Vision of being the best We have the vision of making our journals the best and Favored Author program the most authoritative journals in their respective special- One email is all it takes to become our favored author. ties. We are working towards this goal every day of every You will not only get fee waivers but also get information week of every month of every year. and insights about scholarly publishing. Exceptional services Institutional Membership program We care for you, your work and your time. Our efficient, Join our Institutional Memberships program and help personalized and courteous services are a testimony to this. scholars from your institute make their research accessi- ble to all and save thousands of dollars in fees make their Editorial Review research accessible to all. All manuscripts submitted to Edorium Journals undergo Our presence pre-processing review, first editorial review, peer review, We have some of the best designed publication formats. second editorial review and finally third editorial review. Our websites are very user friendly and enable you to do Peer Review your work very easily with no hassle. All manuscripts submitted to Edorium Journals undergo Something more... anonymous, double-blind, external peer review. We request you to have a look at our website to know more about us and our services. Early View version Early View version of your manuscript will be published in the journal within 72 hours of final acceptance. Manuscript status From submission to publication of your article you will * Terms and condition apply. Please see Edorium Journals website for get regular updates (minimum six times) about status of more information. your manuscripts directly in your email. We welcome you to interact with us, share with us, join us and of course publish with us.

CONNECT WITH US

Edorium Journals: On Web Browse Journals

This page is not a part of the published article. This page is an introduction to Edorium Journals and the publication services.