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Introduction: Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare variant of Mullerian ductal anomaly associated with ipsilateral renal agenesis. Most patients are diagnosed after menarche with complications of uterovaginal obstruction, genitourinary infection and pelvic adhesions. Patients often undergo additional operations for misdiagnosis or treatment of complications. Our institution manages several HWWS patients diagnosed before symptoms by screening for antenatally-diagnosed renal agenesis. This study aims to improve the presymptomatic management of HWWS patients., Methods: We carried out retrospective case review of patients diagnosed with HWWS from 2010 to 2017 on patient demographics, symptoms, clinical course and operative management and summarize the sparse literature published to date., Results: There were 8 patients with HWWS but only 2 symptomatic patients presented acutely with hematocolpos requiring urgent vaginal surgery. The other six patients had early diagnosis through postnatal ultrasound screening. No patient required further operation for diagnosis or complications related to obstructed hemivagina., Conclusion: Our case series and literature review show that the majority of prepubertal patients with HWWS do not require early gynecological surgery. We recommend that female babies with renal agenesis should be screened for HWWS syndrome with ultrasound. Early diagnosis and presymptomatic elective surgery may prevent urogynecological complications that cause fertility and renal impairment., Study Design: Case series, level IV evidence., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Transverse vaginal septum is a rare, often overlooked congenital abnormality that is typically not diagnosed until adolescence. We present the case of a transverse vaginal septum and partial bicornuate uterus in a 16-year-old adolescent girl with developmental delay and cerebral palsy. Magnetic resonance is an excellent diagnostic tool to delineate the specific anatomy before surgery. The effects of delayed diagnosis and the utility of magnetic resonance in diagnosis will be discussed., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. There are very few cases reported regarding its association with anorectal malformations, particularly perineal fistulas. To the best of our knowledge, there have not been any reported cases of anal canal stenosis in patients with MRKH. We describe a very rare association of MRKH with anal canal stenosis and multiple renal calculi. The patient underwent corrective surgery for the anomalies and removal of renal calculi. She has been under regular follow-up for the last few months and is doing well., (Copyright © 2010 Elsevier Inc. All rights reserved.)

A 12-year-old girl had cruciate incision of imperforate hymen draining a large mucocolpos. Her symptoms did not abate thereafter, and 3 months later a transverse vaginal septum was diagnosed. This was perforated and dilated under ultrasound (US) guidance draining a large hematocolpos. Results of examination under anesthesia after 3 months was satisfactory, and she has had normal periods in follow-up for 9 months. Imperforate hymen and transverse vaginal septum are known causes of mucocolpos and hematocolpos. However, the concurrent occurrence of the two abnormalities is unique.

Bardet-Biedl syndrome is an autosomal recessive disorder. It is characterized by cardinal anomalies including retinal dystrophy, digital malformations, mental retardation, obesity, and hypogonadism. Recently, renal anomalies also are mentioned among the cardinal signs. Although association of genital anomalies among affected boys are well known, the association of vaginal atresia and other structural genital anomalies are not mentioned among the less-common manifestations of Bardet-Biedl syndrome in girls. Two girls with Bardet-Biedl syndrome presented with hematometrocolpos in the preadolescent period and vaginal atresia was diagnosed. After surgical treatment and extended hospitalization, uncontrolled sepsis resulted in progressive renal failure and death of both patients. Vaginal atresia is often delayed or missed in the early childhood period. In girls with Bardet-Biedl syndrome, vaginal atresia or other structural genital anomalies should be evaluated more systematically during the initial diagnosis of the syndrome. In infancy, the evaluation of a child with vaginal atresia also should include the differential diagnosis of Bardet-Biedl syndrome. Vaginal atresia may either form a component of the syndrome, or girls who present with vaginal atresia in addition to other components of Bardet-Biedl syndrome might form a distinct entity.

The unique clinical syndrome of uterus didelhphys with an obstructed hemivagina and ipsilateral renal agenesis, presenting as acute abdomen in three pubertal girls, is reported. Accurate preoperative diagnosis and appropriate treatment will offer relief of symptoms and decrease morbidity and unnecessary procedures.