Cloacal malformations are characterized by the confluence of the lower urinary tract, the female reproductive tract, and the rectum to create a common channel with a single opening on the perineum. The presence of a cloaca is a normal phase of early human embryological development. Between the 4^th and 7^th weeks of gestation, the cloaca undergoes subdivision to form the hindgut and urogenital sinus. Failure of this process results in the congenital anomaly termed persistent cloaca (PC). The term urorectal septum malformation sequence (URSMS) is also used to describe this anomaly. The classic description of this process which is still cited in many standard textbooks dates from the 19^th century. However, this has been increasingly called into question by the findings of studies using modern scientific methodology. Urogenital sinus anomalies are defined by the confluence of the urethra and vagina to form a common channel of varying length with a single perineal opening. In this condition, the anorectal canal opens separately on the perineum. The presence of a urogenital sinus represents a transient phase of the normal development of the lower genital tract in the female fetus. However, the form of urogenital sinus most commonly encountered in the developed world is a feature of disordered sexual differentiation and does not arise simply from the persistence of the anatomical structure which is a feature of normal fetal development.
Cloaca/embryology* ; Female ; Humans ; Urogenital Abnormalities/embryology* ; Vagina/embryology*

BACKGROUNDFemale genital malformations represent miscellaneous deviations from normal anatomy. This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital (PUMCH) during a 31-year period.

METHODSWe retrospectively reviewed surgical cases of congenital malformation of the female genital tract at PUMCH for a 31-year period, analyzed the clinical characteristics of 1634 hospitalized patients, and investigated their general condition, diagnosis, and treatment process.

RESULTSThe average patient age was 27.6 ± 9.9 years. The average ages of patients who underwent surgery for uterine malformation and vaginal malformation were 31.9 ± 8.8 years and 24.7 ± 9.0 years, respectively; these ages differed significantly (P < 0.01). Among patients with genital tract malformation, the percentages of vaginal malformation, uterine malformation, vulva malformation, cervical malformation, and other malformations were 43.9%, 43.5%, 7.4%, 2.3%, and 2.8%, respectively. Among patients with uterine malformation, 34.5% underwent surgery for the genital tract malformation, whereas in patients with vaginal malformation, the proportion is 70.6%; the difference between the two groups was statistically significant (P < 0.01). The percentage of complications of the urinary system in patients with vaginal malformations was 10.2%, which was statistically significantly higher than that (5.3%) in patients with uterine malformations (P < 0.01).

CONCLUSIONSCompared to patients with uterine malformations, patients with vaginal malformations displayed more severe clinical symptoms, a younger surgical age, and a greater need for attention, early diagnosis, and treatment. Patients with genital tract malformations, particularly vaginal malformations, tend to have more complications of the urinary system and other malformations than patients with uterine malformations.

Abnormalities, Multiple ; surgery ; Adolescent ; Adult ; China ; Female ; Genitalia, Female ; surgery ; Hospitals ; Humans ; Male ; Retrospective Studies ; Urogenital Abnormalities ; surgery ; Uterus ; abnormalities ; surgery ; Vagina ; surgery ; Young Adult

Rectovestibular fistula is the most common type of anomaly found in a female newborn with anorectal malformation. However, when the baby is found to have two orifices in the introitus, rectovaginal fistula 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 definitive anorectoplasty. In view of its impact on management, a proper examination under anaesthesia, imaging studies and a diagnostic laparoscopy may be required to confirm 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.
Abnormalities, Multiple ; diagnosis ; Anal Canal ; abnormalities ; surgery ; Anorectal Malformations ; Anus, Imperforate ; complications ; diagnosis ; surgery ; Child ; Diagnosis, Differential ; Esophagus ; abnormalities ; Female ; Heart Defects, Congenital ; complications ; Humans ; Infant, Newborn ; Kidney ; abnormalities ; Laparoscopy ; Limb Deformities, Congenital ; complications ; Mullerian Ducts ; abnormalities ; Rectal Fistula ; diagnosis ; Rectum ; abnormalities ; surgery ; Spine ; abnormalities ; Trachea ; abnormalities ; Vagina ; abnormalities

OBJECTIVETo introduce and evaluate the technical feasibility and anatomical and functional outcomes of one-stage vaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermis.

METHODSWe retrospectively reviewed our experiences with 17 patients with Mayer- Rokitansky-Kuster-Hauser syndrome treated with primary surgery from September 2010 to April 2013. All patients underwent vaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermis. We describe the details of this technique, observe the time of epithelization and evaluate the long- term anatomical, functional, and sexual outcomes.

RESULTSThe time of epithelization was 13 d (range: 12-15 d). At a mean follow-up of 15 months (range: 12-24 months), the mean postoperative dependence on the vaginal stent was 11.7 ± 1.64 months (range: 9-15 months), the mean depth of the neovagina was (9.0 ± 0.94) cm (range: 7-11 cm), the mean circumference was (12.3 ± 1.36) cm (range: 10.0-14.5 cm) and the mean volume was (105 ± 10) ml (range 85-120 ml). The mean female sexual function index score of the 12 sexually active patients was 29.5 ± 2.6. No spouse reported discomfort during intercourse.

CONCLUSIONSVaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermis is an effective and feasible approach for patients with Mayer-Rokitansky-Kuster-Hauser syndrome. The procedure has satisfactory long-term anatomical and functional results. The use of the acellular allogenic dermis is limited by the high price and the potential infection.

46, XX Disorders of Sex Development ; surgery ; Acellular Dermis ; Coitus ; Congenital Abnormalities ; surgery ; Feasibility Studies ; Female ; Humans ; Mouth Mucosa ; transplantation ; Mullerian Ducts ; abnormalities ; surgery ; Postoperative Period ; Reconstructive Surgical Procedures ; methods ; Retrospective Studies ; Vagina ; abnormalities ; surgery

BACKGROUNDUterus didelphys and blind hemivagina associated with ipsilateral renal agenesis are collectively known as Herlyn-Werner-Wunderlich syndrome (HWWS). In the literature, the syndrome often appears as a single case report or as a small series. In our study, we reviewed the characteristics of all HWWS patients at Peking Union Medical College Hospital (PUMCH) and suggested a new classification for this syndrome because the clinical characteristics differed significantly between the completely and incompletely obstructed vaginal septum. This new classification allows for earlier diagnosis and treatment.

METHODSFrom January 1986 to March 2013, all diagnosed cases of HWWS at PUMCH were reviewed. A retrospective long-term follow-up study of the clinical presentation, surgical prognosis, and pregnancy outcomes was performed. Statistical analyses were performed using SPSS, version 15.0 (IBM, Armonk, NY, USA). Between-group comparisons were performed using the χ2 test, Fisher's exact test, and the t-test. The significance level for all analyses was set at P < 0.05.

RESULTSThe clinical data from 79 patients with HWWS were analyzed until March 31, 2013. According to our newly identified characteristics, we recommend that the syndrome be classified by the complete or incomplete obstruction of the hemivagina as follows: Classification 1, a completely obstructed hemivagina and Classification 2, an incompletely obstructed hemivagina. The clinical details associated with these two types are distinctly different.

CONCLUSIONSHWWS patients should be differentiated according to these two classifications. The two classifications could be generalized by gynecologists world-wide.

Adolescent ; Child ; Congenital Abnormalities ; classification ; diagnosis ; Female ; Humans ; Male ; Retrospective Studies ; Urogenital Abnormalities ; classification ; diagnosis ; Uterus ; abnormalities ; Vagina ; abnormalities

A case of 17 year-old nulligravid who initially presented with a 3 year history of cyclic hypogastric pain with gradual abdominal enlargement. She was assessed with Imperforate Hymen and underwent hymenectomy and ultrasound-guided aspiration of blood clots per vagina. No vaginal canal was noted. Patient was subsequently lost to follow up.

Patient returned due to recurrence of hypogastric pain and enlargement of abdomen. Transrectal ultrasound revealed hematocolpos with hematometra. Assessment was Cervical and Vaginal Agenesis. Patient underwent exploratory laparotomy, total abdominal hysterectomy with bilateral salpingectomy.

According to American Fertility Society, there is no classification for a complex mullerian malformation such as mixed vaginal and cervical Agenesis. There is no reported case of mixed vaginal and cervical agenesis in the Philippines.

The best surgical management is still controversial. Conservative surgical method should be considered. A rare case of mixed vaginal and cervical agenesis is being presented where the management is a dilemma.

Human ; Female ; Adolescent ; Cervix Uteri-abnormalities ; Vagina-abnormalities

Abnormalities, Multiple ; surgery ; Adolescent ; Child ; Female ; Humans ; Kidney ; abnormalities ; Kidney Diseases ; Retrospective Studies ; Uterus ; abnormalities ; surgery ; Vagina ; abnormalities ; surgery ; Young Adult

We present a case of vaginal ectopic ureter with ipsilateral partial duplication of the upper ureter (Y-type ureter), ipsilateral hypoplastic pelvic kidney and bicornuate uterus in a 20-year-old woman who presented with mild urinary incontinence since infancy. Ultrasonography, computed tomography and intravenous pyelography examination showed a left kidney with no evidence of a right kidney. Cystourethroscopy showed absence of the right hemitrigone. Magnetic resonance (MR) urography demonstrated the presence of a bicornuate uterus, an ectopic dysplastic right kidney in the pelvic cavity, and a right ureter that terminates in the vaginae fornix. The patient underwent right nephroureterectomy and urinary continence was restored completely. Although congenital malformations of the urinary tract are frequently associated with genital tract abnormalities, to best our knowledge, this is the first report of the coexistence of all of these anomalies in an individual. Our report also highlights the importance of MR urography in the diagnosis of such rare and complex anomalies.
Female ; Humans ; Kidney ; abnormalities ; pathology ; Kidney Diseases ; diagnosis ; pathology ; Magnetic Resonance Imaging ; Ureter ; abnormalities ; pathology ; Urinary Incontinence ; etiology ; Uterus ; abnormalities ; pathology ; Vagina ; abnormalities ; pathology ; Young Adult

OBJECTIVE: To analyze magnetic resonance imaging (MRI) findings of Mullerian remnants in young females clinically suspected of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in a primary amenorrhea workup. MATERIALS AND METHODS: Fifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Mullerian remnants, vagina, ovaries, and associated findings. RESULTS: All cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 +/- 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings. CONCLUSION: Typical Mullerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome.
Abnormalities, Multiple/*pathology ; Adolescent ; Adult ; Female ; Humans ; Kidney/abnormalities/pathology ; Magnetic Resonance Imaging/*methods ; Middle Aged ; Mullerian Ducts/abnormalities/pathology ; Retrospective Studies ; Somites/abnormalities/pathology ; Spine/abnormalities/pathology ; Uterus/abnormalities/pathology ; Vagina/abnormalities/pathology

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterized by the congenital absence or hypoplasia of the uterus and the upper two thirds of the vagina due to mullerian duct malformation during embryogenesis. MRKH syndrome usually presents as primary amenorrhea in adolescence in females showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. For this reason, MRKH syndrome usually remains undiagnosed until primary amenorrhea or difficulty in sexual intercourse occurs. In this study, a case of MRKH syndrome diagnosed in a child with idiopathic precocious puberty is reported.
Abnormalities, Multiple ; Adolescent ; Amenorrhea ; Child ; Coitus ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Embryonic Development ; Female ; Humans ; Karyotype ; Kidney ; Mullerian Ducts ; Pregnancy ; Puberty, Precocious ; Somites ; Spine ; Uterus ; Vagina