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Müllerian Agenesis in the Presence Of Singapore Med J 2015; 56(5): e82-e84 Case Report doi: 10.11622/smedj.2015079 MMüllerianüllerian aagenesisgenesis iinn tthehe ppresenceresence ooff aanorectalnorectal mmalformationsalformations iinn ffemaleemale nnewborns:ewborns: a ddiagnosticiagnostic cchallengehallenge Xin Ling Teo1, MBBS, MRCS, Kannan Laksmi Narasimhan1, MBBS, FRCS, Joyce Horng Yiing Chua1, MBBS, FAMS ABSTRACT Rectovestibular fi stula is the most common type of anomaly found in a female newborn with anorectal malformation. However, when the baby is found to have two orifi ces in the introitus, rectovaginal fi stula is much less common and suspected. The rare differential diagnosis of Müllerian agenesis, a condition in which the rectum shifts anteriorly and the vagina is absent, is seldom considered. In many cases, the diagnosis of Müllerian agenesis is made only during defi nitive anorectoplasty. In view of its impact on management, a proper examination under anaesthesia, imaging studies and a diagnostic laparoscopy may be required to confi rm the presence or absence of Müllerian structures in such patients. We herein describe a patient with the rare coexistence of VACTERL association and Müllerian agenesis, and discuss the management of anorectal malformations in female patients with Müllerian agenesis. Keywords: anorectal malformations, Müllerian agenesis INTRODUCTION not demonstrate the presence of the uterus. Karyotype cultures, Müllerian agenesis is a congenital malformation of the genital however, confi rmed a normal 46 XX genotype. tract. While it can exist in isolation or be associated with other The patient required management for her other VACTERL congenital anomalies, its coexistence in a patient with VACTERL association anomalies in the intervening years and received regular association is rare. Nevertheless, it is imperative for an accurate follow-up. At fi ve years of age, she presented with repeated diagnosis to be made through detailed and accurate examination episodes of blood stains on her undergarments. Microscopic and in view of the implications for subsequent therapeutic options. macroscopic haematuria as well as bleeding per rectum were Herein, we describe a patient with the rare coexistence of ruled out on all occasions. An examination under anaesthesia at VACTERL association and Müllerian agenesis, and discuss the that time confi rmed the absence of a normal vaginal opening in management of anorectal malformations in female patients with the introitus (Fig. 1) and that the bleeding was due to ulcerations Müllerian agenesis. on prolapsed urethral mucosa. She was managed with sitz baths and topical antibiotic ointment. Over time, the degree of mucosal CASE REPORT prolapse improved, with healing of the mucosa ulcerations. As the A female infant was delivered at 38 weeks of gestation with good fi rst pelvic ultrasonography had been performed in infancy, more birth weight. She was found to have oesophageal atresia with a defi nitive imaging was proposed to evaluate the pelvic organs tracheo-oesophageal fi stula and underwent a successful repair. and better delineate the genitourinary tract. Magnetic resonance Her anal opening was also found to be absent, with passage of (MR) imaging of the pelvis was subsequently performed, which meconium noted via an opening in the introitus. Other anomalies also failed to demonstrate a defi nite uterus, but both ovaries suggesting VACTERL association included tethering of the spinal were visualised. cord with a lipomatous fi lum, bilateral vesico-ureteric refl ux, At seven years of age, as part of her evaluation for neurogenic overactive bladder, a small, scarred right kidney, as well as minor bladder and vesico-ureteric refl ux, a cystoscopy was performed. cardiac defects (patent ductus arteriosus, patent foramen ovale In the same sitting, she underwent diagnostic laparoscopy, which and atrial septal defects). confi rmed the absence of a uterus and fallopian tubes (Fig. 2). Bilateral A bedside examination of the perineum suggested the ovaries with round ligaments were visualised on laparoscopy. The diagnosis of a rectovestibular fi stula. The patient was therefore diagnosis of Müllerian agenesis was thus established. Her parents managed initially with washouts via the fistula, which were counselled regarding the options of reconstructive surgery, achieved good decompression. Elective posterior sagittal but they were keen to delay intervention till puberty. anorectoplasty (PSARP) was carried out at 11 weeks of age. During surgery, the anal opening was found between the labia minora DISCUSSION with no apparent vaginal opening. This raised the suspicion Müllerian agenesis is a congenital malformation of the genital of vaginal atresia. The decision was made to proceed with the tract. The embryological origin of the genital tract is derived anorectoplasty. Postoperative ultrasonography of the pelvis could initially from the intermediate mesoderm of the urogenital 1Department of Paediatric Surgery, KK Women’s and Children’s Hospital, Singapore Correspondence: Dr Teo Xin Ling, Medical Offi cer, Department of Paediatric Surgery, KK Women’s and Children’s Hospital, 100 Bukit Timah Road, Singapore 229899. [email protected]. e82 Case Report 11aa 11bb Fig. 1 Photographs taken during examination conducted under anaesthesia show (a) a single orifi ce opening into the urethra (arrow); and (b) the insertion of a urinary catheter through the orifi ce with drainage of urine. 22aa 22bb Fig. 2 Laparoscopic images of the pelvis show (a) an absent uterus; and (b) the presence of ovaries (arrow). ridge. The Müllerian duct develops as an evagination of the been reported as part of the MURCS association in patients with peritoneum adjacent to the gonads and migrates to the cloaca VACTERL association in a few case reports.(3,4) following the Wolffi an duct. The distal end of the ducts forms a The association of Müllerian agenesis with anorectal solid uterovaginal primordium, which contacts the endodermal malformation poses a diagnostic challenge to paediatric surgeons, urogenital sinus at the Müllerian tubercle. Proliferation of the and the diagnosis of Müllerian agenesis in such patients is usually endoderm of the tubercle produces the vaginal plate, which delayed because of a lack of awareness. In the evaluation of a forms the vaginal lumen by canalisation and elongates caudally female neonate with an anorectal malformation, the diagnostic to bring the opening of the vagina to the exterior of the urogenital algorithm follows examination fi ndings from a detailed perineal sinus. Müllerian agenesis results in a congenital absence of the examination. However, examination of a neonatal perineum uterus and vagina, and is one of the most common causes of at the bedside when the baby is awake and kicking can be vaginal agenesis.(1,2) extremely diffi cult. Often, the actual number of orifi ces cannot Müllerian agenesis can exist in isolation or be associated be clearly defined. While one would expect three orifices with other congenital anomalies such as renal and skeletal (urethral, vaginal and rectal fi stula) in a classic rectovestibular anomalies in MURCS association, a distinctive non-random fi stula, defi nitive identifi cation of all three is not always possible association involving malformations of Müllerian duct aplasia, in the ward. As rectovestibular fi stula remains the most common renal aplasia and cervicothoracic somite dysplasia. Mayer- anorectal malformation in a female infant, passage of meconium Rokitansky-Küster-Hauser syndrome, which can be associated via the introitus is often assumed to be due to the presence of a with renal or skeletal abnormalities as well as hearing or rectovestibular fi stula. At the defi nitive anorectoplasty, however, cardiac defects, was found in this patient. On the other hand, the anatomy can be better defi ned. When only two orifi ces are anorectal malformations, which are birth defects involving seen, the underlying possibilities would be a rectovaginal fi stula the development of the lowest portion of the intestinal and and, less commonly, Müllerian agenesis. Our patient’s case urogenital tracts, often feature in VACTERL association. history clearly demonstrated the diagnostic diffi culties associated While there are various congenital abnormalities commonly with this constellation of rare anomalies. associated with Müllerian agenesis, its coexistence in a patient A review of the literature on anorectal malformations that are with VACTERL association is rare. Müllerian agenesis has only associated with Müllerian anomalies is summarised in Table I.(5-8) e83 Case Report Table I. Summary of literature on coexistence of Müllerian agenesis and anorectal malformations. Characteristic Mahajan et al(5) Günşar et al(6) Digray et al(7) Joshi et al(8) Age of patient at 8 yr 5 yr 10 mth 14 yr diagnosis Presentation Passage of stools from vestibule Anteriorly located Passage of stools Constipation since birth and through anus anus; incidental from vestibule fi nding on examination Anorectal Anovestibular fi stula Rectovestibular fi stula Rectovestibular Anal canal stenosis malformation fi stula Müllerian Absent upper vagina, uterus, Agenesis of kidney, Absent vagina, uterus Vaginal agenesis anomalies hypoplastic fallopian tubes uterus, vagina and fallopian tubes No. of stages in 1 1 1 (diagnosed during 2 reconstruction surgery) Type of Lay-open of anovestibular fi stula, PSARP, sigmoid loop Left sigmoid Cutback anoplasty followed reconstruction reconstruction of perineal body vaginoplasty colostomy, interval by sigmoid
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