Embarazo ectópico en cuerno rudimentario izquierdo de útero unicorne con embarazo de 15 semanas: reporte de un caso / Ectopic pregnancy in rudimentary left horn of unicorne uterus with pregnancy of 15 weeks: a case report

INTRODUCCIÓN: El embarazo ectópico en el cuerno rudimentario de un útero unicorne tiene una incidencia de 1 en 76.000 embarazos. La aproximación diagnóstica se realiza con la ecografía y como estudio complementario con la resonancia magnética. El diagnóstico temprano con tratamiento oportuno es fundamental para la prevención de la morbimortalidad materna asociada. El objetivo es describir el diagnóstico y el tratamiento temprano de un caso de embarazo ectópico de 15 semanas en cuerno rudimentario no comunicante de útero unicorne. CASO CLÍNICO: Mujer de 38 años con embarazo de 15 semanas, asintomática, que ingresa al servicio de urgencias referida desde el servicio de ecografía por sospecha de embarazo ectópico. Se realizan ecografía y resonancia magnética que muestran embarazo con feto único de 15 semanas en cuerno uterino izquierdo rodeado de miometrio, sin comunicación con la cavidad endometrial. Con impresión diagnóstica de embarazo ectópico cornual en paciente con malformación mülleriana, se realizó manejo quirúrgico que confirmó útero unicorne con embarazo ectópico en cuerno rudimentario no comunicante. CONCLUSIONES: El embarazo ectópico en un cuerno rudimentario de útero unicorne es infrecuente y presenta un alto riesgo de rotura, con aumento de la morbimortalidad obstétrica. El tratamiento estándar, al igual que la confirmación diagnóstica, es la escisión quirúrgica completa.

INTRODUCTION: Ectopic pregnancy in the rudimentary horn of a unicornuate uterus has an incidence of 1 in 76,000 pregnancies; the diagnostic approach is carried out with ultrasound and magnetic resonance imaging as a complementary study; Early diagnosis with timely treatment is essential for the prevention of associated maternal morbidity and mortality. The objective is to describe the early diagnosis and treatment of a case of 15-week ectopic pregnancy in a rudimentary non-communicating horn of the unicornuate uterus. CASE REPORT: A 38-year-old patient with an asymptomatic 15-week pregnancy was admitted to the emergency department, referred to the ultrasound service for suspected ectopic pregnancy. Ultrasound and magnetic resonance imaging were performed with pregnancy with a single fetus of 15 weeks in the left uterine horn surrounded by myometrium, without communication with the endometrial cavity. With a diagnostic impression of cornual ectopic pregnancy in a patient with a Müllerian malformation, a surgical management was performed where a unicornuate uterus with a rudimentary non-communicating ectopic horn was confirmed. CONCLUSIONS: Ectopic pregnancy in rudimentary horn of the unicornuate uterus is rare, it presents a high risk of rupture with increased obstetric morbidity and mortality. The standard treatment as well as the diagnostic confirmation is complete surgical excision.

Herlyn-Werner-Wunderlich syndrome: Case report / Síndrome de Herlyn-Werner-Wunderlich. Reporte de caso

Abstract Introduction: Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital malformation of the urogenital tract characterized by the triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis, which is usually diagnosed after menarche. It is treated by resecting the vaginal septum and draining the obstructed hemivagina and has a favorable postoperative prognosis. Case presentation: This is the case of 22-year-old woman with a 9-year history of dysmenorrhea, pelvic pain, and irregular menstrual cycles that started after she had her first menstruation, who visited the gynecology service of a secondary care hospital in Sogamoso, Boyacá (Colombia). The patient reported having visited multiple specialists and being treated with vitamin E, metformin, and contraceptives, without experiencing an improvement of symptoms and signs. After being assessed, and taking into account ultrasound and MRI findings, she was diagnosed with HWW syndrome. She underwent a colpotomy plus resection of right paracervical mass of approximately 60x60mm and vaginal septum, achieving complete resolution of symptoms. Finally, 10 months after the surgery, she reported being pregnant without complications. Conclusion: HWW syndrome is a rare malformation that should be considered as a differential diagnosis in women of any age with paramesonephric duct anomalies, pelvic pain, dysmenorrhea, and presence of masses in the genital tract, since its early diagnosis and timely treatment considerably improve the quality of life of these patients by reducing the severity of symptoms, decreasing the incidence of complications, and improving obstetric prognosis.

Resumen Introducción. El síndrome de Herlyn-Werner-Wunderlich (SHWW) es una malformación congénita rara del tracto urogenital que se caracteriza por la triada útero didelfo, hemivagina obstruida y anomalía renal ipsilateral, y que suele diagnosticarse después de la menarquia. Su tratamiento consiste en resección del tabique vaginal y drenaje de la hemivagina obstruida, con un buen pronóstico postquirúrgico. Presentación del caso. Mujer de 22 años con un cuadro clínico de 9 años de evolución que inició cuando tuvo su primera menstruación, consistente en dismenorrea, dolor pélvico y ciclos menstruales irregulares, quien asistió al servicio de ginecología de un hospital de segundo nivel en Sogamoso, Boyacá (Colombia). La paciente reportó haber visitado múltiples especialistas y recibido tratamiento con vitamina E, metformina y anticonceptivos, sin mejoría de los síntomas y signos. Luego de ser valorada, y teniendo en cuenta los hallazgos en ecografía y resonancia magnética, fue diagnosticada con SHWW, por lo que se le realizó colpotomía más resección de masa paracervical derecha de aproximadamente 60x60mm y de tabique vaginal, lográndose la resolución completa de los síntomas. Finalmente, 10 meses después de la cirugía, la joven refirió encontrarse en estado de embarazo, sin presentar complicaciones. Conclusión. El SHWW es una malformación poco común que debe considerarse como diagnóstico diferencial en mujeres de cualquier edad con anomalías de los conductos paramesonéfricos, dolor pélvico, dismenorrea y masa en el tracto genital, pues su diagnóstico temprano y un tratamiento oportuno mejoran considerablemente la calidad de vida de estas pacientes al reducir la severidad de los síntomas, disminuir la incidencia de complicaciones y mejorar el pronóstico obstétrico.

Síndrome de Herlyn-Werner-Wunderlich: reporte de caso y revisión de la literatura / Herlyn-Werner-Wunderlich syndromne: case review and report of the literatura

RESUMEN Objetivo: Presentar un reporte de caso de síndrome de Herlyn Werner Wunderlich (SHWW) y hacer una revisión de la literatura para determinar los hallazgos clínicos e imagenológicos en estas pacientes. Materiales y métodos: Se presenta el caso de una mujer de 16 años que consultó, en un hospital de las fuerzas militares en Bogotá, por dolor pélvico recurrente, su diagnostico final fue SHWW. Se realizó una búsqueda sistemática de la literatura en las diferentes bases de datos, revisiones sistemáticas, cohortes, series de casos y reportes de casos en pacientes con diagnóstico de SHWW en cualquier edad, se obtuvo información sobre las características de presentación clínica, y las tecnologías diagnósticas más frecuentemente utilizadas. Se hace resumen narrativo de los hallazgos. Resultados: Se incluyeron 77 publicaciones, un total de 676 pacientes. Los síntomas más frecuentes fueron dismenorrea (63,9 %), seguido de dolor pélvico (35,2%). Las tecnologías diagnósticas más utilizadas fueron el ultrasonido pélvico en un 92,1% y la resonancia magnética nuclear en un 74,6% de los casos. La histeroscopia y laparoscopia son poco utilizados en el diagnóstico. Conclusión: El SHWW es una entidad poco frecuente, debe hacer parte del estudio complementario de la agenesia renal del paciente pediátrico y del diagnóstico diferencial de la dismenorrea primaria en pacientes en la adolescencia. Se requiere evaluar con estudios de cohorte más grandes la utilidad de la histeroscopia en estas pacientes.

ABSTRACT Objective: To report a case of Herlyn-Werner-Wunderlich syndrome (HWWS) and conduct a review of the literature to determine clinical and imaging findings in these patients. Material and methods: A 16-year-old female patient who presented to a military hospital in Bogota complaining of recurrent pelvic pain, receiving a final diagnosis of HWWS. A systematic search was conducted in the different databases of systematic reviews, cohort studies, case series and case reports of patients of any age diagnosed with HWWS. Clinical presentation characteristics and the most frequent diagnostic technologies used were obtained. A narrative summary of the findings is presented. Results: Overall, 77 publications with a total of 676 patients were included. The most frequent symptom was dysmenorrhea (63.9%), followed by pelvic pain (35.2%). The most frequently used diagnostic technologies were pelvic ultrasound in 92.1% of cases and nuclear magnetic resonance in 74.6%. Hysteroscopy and laparoscopy are seldom used for diagnosing this condition. Conclusion: HWWS is an infrequent disease condition. It must be part of the work-up for renal agenesis in pediatric patients and of the differential diagnosis in primary dysmenorrhea in adolescence. The role of hysteroscopy in this condition must be further assessed in larger cohort studies.

Diagnóstico y tratamiento del síndrome de Herlyn-Werner-Wünderlich: reporte de dos casos

Las malformaciones müllerianas son anomalías congénitas que suelen manifestarse después de la menarquia. Entre ellas, el síndrome de Herlyn-Werner-Wünderlich (SHWW) se caracteriza por útero didelfo, hemivagina obstruida y agenesia renal ipsilateral. La presentación clínica del SHWW suele ser asintomática hasta la menarquia; la mayoría es diagnosticada entre 2 meses y 1 año después de la primera menstruación. Los síntomas que se presentan son dismenorrea, dolor abdominal cíclico recurrente, menstruación irregular y, a veces, masa pélvica palpable. Ocasionalmente, el hematocolpos o la hematometra pueden desarrollar piocolpos, piosálpinx y pelviperitonitis, y algunas pacientes solo manifiestan infertilidad o pérdida recurrente del embarazo. Presentamos los casos de dos pacientes de 11 y 13 años que acudieron con dolor abdominal cíclico y describimos la historia clínica, las imágenes y el tratamiento específico que se realizó en cada una de las pacientes.

Müllerian malformations are congenital anomalies that usually manifest after menarche. Among them, Herlyn-Werner-Wünderlich syndrome (SHWW) is characterized by didelphic uterus, obstructed hemivagina and ipsilateral renal agenesis. The clinical presentation of SHWW is usually asymptomatic until menarche; most are diagnosed 2 months to 1 year after first menstruation. Presenting symptoms are dysmenorrhea, recurrent cyclic abdominal pain, irregular menses, and sometimes palpable pelvic mass. Occasionally, hematocolpos or hematometra may develop pyocolpos, pyosalpinx and pelviperitonitis, and some patients manifest only infertility or recurrent pregnancy loss. We report the cases of two patients aged 11 and 13 years who presented with cyclic abdominal pain and describe the clinical history, imaging and specific treatment performed in each patient.

Manejo intraparto del tabique vaginal longitudinal / Intrapartum management of a longitudinal vaginal septum

RESUMEN El tabique vaginal congénito longitudinal (TVCL) es un defecto que puede asociarse a dispareunia o distocia durante el parto. Se presenta el caso de una mujer secundigesta nulípara de 20 años en quien se identificó un TVCL durante trabajo de parto. En el tacto vaginal se palpó una estructura elástica de aproximadamente 2 cm por detrás del introito vaginal. Durante la segunda etapa del trabajo de parto, se realizó una sección medial del tabique permitiendo el nacimiento de un producto vivo. En conclusión, un examen físico exhaustivo es suficiente para evidenciar la presencia de un tabique vaginal; sin embargo, existe la probabilidad de un diagnóstico intraparto de TVCL donde la formación médica ginecológica es necesaria para minimizar los riesgos asociados al parto.

ABSTRACT The longitudinal congenital vaginal septum (LCVS) is a defect that can be associated with dyspareunia or dystocia during childbirth. We present a case of a 20 year old woman in whom a LCVS was identified during labor. In the pelvic examination, an elastic structure was felt about 2 cm behind the vaginal intro. During the second stage of labor, a medial section of the septum was made allowing the birth of a live female product. In conclusion, a thorough physical examination is enough to show the presence of a vaginal septum. However, there is a probability of an intrapartum diagnosis of LCVS therefore gynecological medical training is necessary to minimize the risks associated with childbirth.

Primary broad ligament adenocarcinoma

Primary broad ligament carcinoma is a very rare occurrence with 28 reported cases worldwide, to date. The epidemiology, treatment strategy and prognosis are still uncertain because of the scarcity of cases. Currently, all broad ligament carcinomas are managed similar to epithelial ovarian cancer. We report the case of a 43-year-old female with a prolonged complaint of abdominal pain and intermittent urinary retention, requiring frequent catheterization. She was diagnosed with obstructive right hydroureteronephrosis. The abdominal Contrast Enhanced Computed Tomography (CECT) revealed a well-defined heterogeneous lesion of 2.1х3х3.2cm size in the right lateral and posterior wall of the cervix. An ultrasound (USG)-guided Fine Needle Aspiration Cytology (FNAC) of the mass was done and it was suspected to be malignant. The patient underwent total abdominal hysterectomy, right salpingo-oophorectomy, pelvic lymph-nodal sampling, and peritoneal washing. Histological examination depicted an endometrioid adenocarcinoma of the broad ligament. She received adjuvant chemotherapy, followed by hormonal therapy. It has been five years since her surgery, and she is now alive and disease free.

Útero didelfo como causa de ruptura uterina espontánea. Reporte de un caso / Didelphys uterus as a cause of spontaneous uterine rupture. A case report

Resumen: ANTECEDENTES: Las malformaciones müllerianas son un grupo de alteraciones congénitas que resultan del inadecuado desarrollo de los conductos de Müller durante la embriogénesis. El 25% de las mujeres con malformaciones müllerianas tiene problemas obstétricos. La rotura espontánea del útero didelfo durante el embarazo es un accidente poco frecuente y de difícil diagnóstico. La importancia del estudio de estas malformaciones radica en las posibilidades diagnósticas y terapéuticas, además del pronóstico reproductivo de las pacientes. CASO CLÍNICO: Paciente de 27 años, acudió a consulta por dolor abdominal intenso súbito. A la exploración física se encontraron: tensión arterial de 90-50 mmHg, palidez cutáneo-mucosa, hipotensión e hipotermia, abdomen doloroso, fondo uterino no delimitable y datos de irritación peritoneal; cuello uterino cerrado, sin sangrado transvaginal. En la ecografía: feto único extrauterino, con ausencia de actividad cardiaca, de 21.2 semanas de gestación y líquido libre en la cavidad abdominal. La laparotomía exploradora reportó: útero didelfo con ruptura uterina, por lo que se procedió a la metroplastia de Strassman, con resultados satisfactorios. CONCLUSIÓN: Aún con la escasa frecuencia de estos casos siempre será conveniente tenerlos en mente en el diagnóstico diferencial de mujeres embarazadas que en el segundo trimestre manifiestan dolor abdominal. Este caso sirve como precedente para la atención y tratamiento temprano, con la intención de evitar complicaciones, como la ruptura uterina.

Abstract: BACKGROUND: Mullerian malformations are a group of congenital pathologies resulting from from an inadequate development of the Mullerian ducts during embryogenesis. The 25% of women with mullerian malformations have obstetric problems. Spontaneous rupture of the didelphys uterus during pregnancy is a rare and difficult- to- diagnose accident. The fundamental importance of the study of these malformations lies in the various diagnostic and therapeutic possibilities employed, in addition to the improvement in the reproductive prognosis of the patients. CLINICAL CASE: 27-year-old patient, who starts suddenly with severe abdominal pain. She arrives at the emergency department with blood pressure of 90/50 mmHg, pale-mucous paleness, coldness, hypotension and hypothermia, painful abdomen, non-delimitable uterine fundus, with data of peritoneal irritation; closed cervix, without transvaginal bleeding. On ultrasound: single extrauterine fetus, with absence of cardiac activity, 21.2 weeks, presence of free fluid in abdominal cavity. An exploratory laparotomy is performed by finding a didelphys uterus with uterine rupture and a Strassman metroplasty is performed. CONCLUSION: Despite the low frequency of the clinical case presented, we believe that it should be considered in the differential diagnosis of pregnant women with abdominal pain in the second trimester. Likewise, we consider it important to make it known to contribute to early approach and treatment, avoiding complications such as uterine rupture.

Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.

Síndrome de Herlyn-Werner-Wünderlich y diagnóstico tardío: a propósito de un caso / Herlyn-Werner-WÜnderlich syndrome with late diagnosis: a propos of a case

Herlyn-Werner-Wünderlich syndrome is a rare congenital anomaly that affects the genitourinary system. It is defined by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It consists in a Mullerian anomaly. Most patients remain asymptomatic until the menarche, when they present dysmenorrhea, pelvic pain, and a pelvic mass is noticed due to hematocolpos. We present the case of a 32-year-old patient studied for infertility. 3D transvaginal ultrasound and hysterosalpingography showed uterus didelphys and a blind hemivagina. Speculoscopy during menses revealed a normal cervix and a little orifice on the lateral vagina where blood could be seen draining from a fistulized hemivagina. The abdominal ultrasound showed ipsilateral renal agenesis, confirming the suspected diagnosis.

El síndrome de Herlyn-Werner-Wünderlich es una anomalía congénita del tracto urogenital. Se caracteriza por la tríada de útero didelfo, hemivagina obstruida y agenesia renal unilateral. La mayoría de pacientes se mantienen asintomáticas hasta la menarquia, cuando debutan con dismenorrea, dolor pélvico y masa palpable debido al hematocolpos asociado. Presentamos el caso de una paciente de 32 años en estudio por problemas de fertilidad. Se realizó estudio ecográfico 3D e histerosalpingografía, donde se observó útero bicorne completo con doble canal cervical, con impresión diagnóstica de vagina homolateral ciega. A la especuloscopia durante el periodo menstrual se observó cérvix de hemivagina normal y orificio de salida en cara lateral, por donde drenaba sangre de hemivagina ciega (probablemente fistulizada). Se realizó una ecografía abdominal que constató agenesia renal izquierda, confirmándose el diagnóstico.

Value of MRI in the pre-operative diagnosis and classification of oblique vaginal septum syndrome / 中华妇产科杂志

Objective@#To explore the role of MRI in the pre-operative diagnosis and classification of oblique vaginal septum syndrome (OVSS) .@*Methods@#A retrospective analysis of the clinical records and pre-operative MRI images of 19 patients with surgery proved OVSS was carried out. Two experienced radiologists reviewed the pre-operative pelvic MRI of the 19 patients in consensus blind to the surgery results. Characteristics including malformations of the uterus, cervix and vagina, the diagnosis of the disorder and classification were evaluated. Pre-operative MRI diagnosis and classification were correlated with surgical findings.@*Results@#Mean age of onset of symptoms for the 19 patients was 15 years (ranged 9-25 years) , and mean age of menarche was 12 years. Ten patients suffered from dysmenorrhea or lower abdominal pain, 5 patients complained of vaginal discharge, 3 patients had a history of irregular menstruation, 1 patient suffered from primary infertility. All 19 patients showed uteri didelphys. Eighteen patients showed vaginal oblique septum.One patient showed cervical atresia.MRI was completely correlated with the surgery in the pre-operative diagnosis of OVSS. MRI classification was in line with surgery in 17 patients, including 9 patients with imperforate septum (typeⅠ) , 6 patients with perforate septum (type Ⅱ) , 1 patient with imperforate septum and cervical fistula (type Ⅲ) , and another one with cervical agenesis (type Ⅳ) . One case of type Ⅱ was misdiagnosed as type Ⅰ, another one of type Ⅰ was misdiagnosed as type Ⅲ. Pre-operative MRI classification was correlated with surgery in 17 out of 19 patients.@*Conclusion@#Pre-operative MRI allows excellent manifestation and accurate diagnosis of OVSS, and could also facilitate the evaluation of the classification.

Prognosis-related clinicopathologic characteristics of FIGO stage Ⅰ Müllerian adenosarcoma of uterus / 中华病理学杂志

Objective@#To investigate the clinicopathological features of FIGO stage Ⅰ uterine Müllerian adenosarcoma and clinical prognosis.@*Methods@#Fifteen cases of uterine Müllerian adenosarcoma at FIGO stage Ⅰ were collected at PLA General Hospital from 2005 to 2017. Twelve cases with complete follow-up data were divided into 2 groups: group A (7 patients with survival) and group B(5 patients of death or tumor progression). Clinicopathologic features were compared between the two groups.@*Results@#The median age of the patients was 43 years and 56 years, and the tumor size was 4.3 cm and 7.3 cm for group A and B, respectively. Cases in group A were FIGO ⅠA and ⅠB stage tumors and were mainly low grade in histology (5/7) with rare tumor hemorrhagec, necrosis (1/7) and sarcomatous overgrowth. In contrast, most cases in group B were high grade sarcomas(3/5) with frequent hemorrhage, necrosis(3/5) and sarcomatous overgrowth(4/5). Most cases of group A expressed ER, PR and CD10 (6/7) and low Ki-67 index of ≤20%(5/7). While most group B cases lost expression of ER and PR (3/5), significantly reduced expression of CD10 and higher Ki-67 index of ≥30%(4/5).@*Conclusions@#Most of uterine adenosarcomas are of low malignant potential. The main prognostic indicator is advanced tumor stage. For patients at stage Ⅰ, sarcomatous overgrowth, high-grade histology, deep myometrial invasion, decreased or absent expression of CD10, ER and PR, increased Ki-67 index(≥30%) and hemorrhagic necrosis may indicate poor prognosis. Müllerian adenosarcomas arising from endomeriosis may present unusual growth patterns.

Development and validation of the Chinese version of modified body imgae scale in Chinese population / 中华妇产科杂志

Objective To develop the Chinese version of modified body image scale(MBIS) questionnaires, and to validate them in Chinese population. Methods The original English MBIS questionnaire was translated into Chinese, following the WHO cross-cultural adaptation of health-related quality of life measures. The reliability and validity of the Chinese version of MBIS questionnaires were evaluated in Chinese population, MRKH syndrome patients. Results Totally 50 patients with MRKH syndrome completed the MBIS and short-form 12-item health survey(SF-12)questionnaires.The Cronbach′s alpha of MBIS was 0.741,intraclass correlation coefficients were 0.472-0.815(P<0.01).MBIS scores were positively correlated with SF-12 scores(Spearman correlation coefficient was-0.409, P<0.01). Factor analysis showed that MBIS had one common factor. Conclusion Chinese version of MBIS has high reliability and validity in Chinese population,therefore is suitable for clinic and research.

The current status of three-dimensional ultrasonography in gynaecology

Ultrasonography (US) is the most recent cross-sectional imaging modality to acquire three-dimensional (3D) capabilities. The reconstruction of volumetric US data for multiplanar display took a significantly longer time to develop in comparison with computed tomography and magnetic resonance imaging. The current equipment for 3D-US is capable of producing high-resolution images in three different planes, including real-time surface-rendered images. The use of 3D-US in gynaecology was accelerated through the development of the endovaginal volume transducer, which allows the automated acquisition of volumetric US data. Although initially considered an adjunct to two-dimensional US, 3D-US is now the imaging modality of choice for the assessment of Mullerian duct anomalies and the location of intrauterine devices.

Currarino triad with Mullerian duct anomaly in mother and daughter without MNX1 gene mutation

The Currarino triad is a unique complex of congenital caudal anomalies, including anorectal malformation, sacral bony defect and presacral mass. This triad may be associated with Mullerian duct anomalies, such as duplication of the vagina and uterus. Each of these diseases has a familial tendency and sometimes coexist within families. But, when coexisting in familial cases, nearly all reported cases revealed mutations of the motor neuron and pancreas homeobox 1 (MNX1) gene. Familial cases of Currarino triad combined with Mullerian duct anomaly without MNX1 gene mutation are very rare. Here we report cases of mother and daughter, who had Currarino triad and Mullerian duct anomaly without MNX1 gene mutation, along with a brief literature review.

A case of Herlyn-Werner-Wunderlich syndrome: a rare, congenital genitourinary anomaly in a 12-year-old girl

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare, congenital genitourinary anomaly involving the Müllerian and Wolffian structures, and is characterized by the triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents in adolescent girls in whom hematometrocolpos produces a pronounced mass effect and pain on the side of the obstructed hemivagina. Accurate diagnosis and surgical treatment can be delayed for several months or even years. Here, we report a case of a 12-year-old girl who presented to the emergency department with lower abdominal pain and mass that had lasted for 2 weeks. After the confirmation of HWW syndrome with magnetic resonance imaging, hysteroscopic septostomy was carried out as a definitive treatment. When we evaluate adolescent girls with lower abdominal pain and mass, we should consider the possibility of HWW syndrome.

Intrauterine sexual differentiation: biosyntesis and action of sexual steroid hormones

The objective of this review was to describe sexual differentiation events in mammals, relating them to biosynthesis of sexual steroid hormones and their mechanisms of action. Cholesterol is the precursor of sexual steroid hormone biosynthesis via action of several enzymes converting these hormones. Progestagens hormones serve as substrate for the production of androgens, which in turn serve as substrate for estrogen hormones. These hormones are responsible for sexual differentiation and reproductive cycles of mammals. Sexual differentiation process comprises determining the sexual chromosomes XX or XY + SRY and other genes linked to them, differentiation of gonads in testis or ovary, differentiation of internal and external male or female genital organs from undifferentiated anatomical structures present in the embryo, which is dependent on the presence or absence of testes and the production of anti-Müllerian hormone and testosterone; and secondary sexual differentiation, which is the response of various tissues to hormones produced by the gonads, interacting with genes linked to sexual chromosomes to increase or decrease the differences in sexual phenotype. However, some differences between the sexes and some anomalies of sexual differentiation are not explained only by these sexual hormonal effects, but also by the effect of genes encoded in sexual chromosomes.

Herlyn-Werner-Wunderlich syndrome: a case report / Síndrome de Herlyn-Werner-Wunderlich: relato de caso

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital disorder of the Müllerian ducts in which there is uterus didelphys, obstructed hemivagina and unilateral renal agenesis. The most common presentation is an abdominal mass secondary to hematocolpos, pain and dysmenorrhea. However, in some cases, such as the one we present here, menses are normal due to an obstructed hemivagina, and diagnosis can be delayed. We describe evaluation and surgical management of a 13-year-old girl with this condition who was diagnosed by computed tomography (CT) scan and confirmed by pelvic ultrasound and surgical exploration, as well as a review of the literature.

A síndrome de Herlyn-Werner-Wunderlich (HWW) é uma doença congênita rara dos dutos müllerianos, em que há útero didelfo, hemivagina obstruída e agenesia renal unilateral. A apresentação clínica mais comum é como uma massa abdominal secundária a hematocolpo, dor e dismenorreia. Em alguns casos, porém, como no que apresentamos aqui, a menstruação é normal devido à obstrução de uma hemivagina, e o diagnóstico pode ser tardio. Descrevemos neste trabalho a avaliação e manejo cirúrgico de uma paciente de 13 anos com essa condição que foi diagnosticada com uso de tomografia computadorizada e confirmada por ultrassonografia pélvica e exploração cirúrgica, bem como uma revisão da literatura.

Clinicopathological analysis of recurrent uterine Mullerian adenofibroma / 重庆医学

Objective To analyze and summarize the clinicopathological features of recurrent uterine Mullein adenofibroma . Methods 8 cases of recurrent uterine Mullein adenofibroma in our hospital from February 2003 to February 2014 were selected and analyzed on the clinical data for summarizing its clinicopathological features .Results In 8 cases of recurrent uterine M ullerian ade‐nofibroma ,the lobulated neoplasm could be found on outside of the cervix or inside of the uterus ,which was formed by the benign epithelial and mesenchymal tissue .Immunohistochemistry showed that the estrogen receptor (ER) was expressed in 8 cases ,some cases expressed progesterone receptor(PR) ,smooth muscle actin(SMA) ,CD10 and p53 ,and the mean average value of Ki‐67 (+ ) was 8% .Conclusion Recurrent uterine Mullerian adenofibroma has no specific clinicopathological changes ,its differential diagnosis with sarcoma is difficult .Only CD10 and Ki‐67 may be conducive to diagnosis .

Transrectal ultrasonographic features of midline prostatic cysts in infertile men and their semen analysis / 中华医学超声杂志（电子版）

Objective To investigate the transrectal ultrasonographic (TRUS) features of midline prostatic cysts and the semen analysis in infertile men. Methods The ultrasonographic characteristics of midline prostatic cysts were retrospectively analyzed in 34 infertile men, who underwent transrectal ultrasound and semen analysis in Suzhou Hospitial Affiliated to Nanjing Medical University from November 2013 to October 2014. Results Thirty-four patients were detected by transrectal ultrasound with anechoic areas in their prostates. Among them, the cysts could be divided into 3 groups:17 ejaculatory duct cyst, 11 mullerian duct cyst and 6 true prostatic cyst. Ejaculatory duct cysts was connected with ipsilateral seminal vesicle and pointed to seminal hillock showing a water-drop shape on longitudinal view of ultrasound. Mullerian dust cysts were located at the base of the prostates behind the urethra with a water-drop shape on longitudinal view. True prostatic cysts were inside the prostates or under the prostate capsules with a round or oval shape either on longitudinal view or transverse view of ultrasound. Therefore, these midline prostate cysts could be differentiated by their anatomical position and shape. These patients then underwent semen analysis. By semen analysis, there were 13, 4, 1 aspermia and 2, 6, 2 oligospermia in patients with ejaculatory dust cysts, mullerian duct cysts, and true prostatic cysts, respectively. Conclusions Transrectal ultrasound can provide accurate information about the anatomical position and shape of midline prostatic cysts in infertile men. Combined with semen analysis, transrectal ultrasound can provide a reliable evidence for clinical treatment.

Two Cases of Microperforation of the Transverse Vaginal Septum

Primary amenorrhoea with microperforate transverse vaginal septum is a rare entity with varied incidence in different parts of the world. It may be asymptomatic, unlike imperforate hymen. Depending on the size of the microperforation in transverse vaginal septum clinical features may vary similar to those found in imperforate hymen cases. We report two cases of a 25 and 22-year-old women who sought the gynaecologist with complains of primary infertility. They had normal menses with one of them having secondary dysmenorrhea. Physical examination and imaging disclosed microperforation of transverse vaginal septum in the upper part of the vagina at mid point position. Resection of the septum under anesthesia was done. The outcome was favourable and 25 year asymptomatic patient with primary infertility at the present moment have conceived carrying six weeks pregnancy and second patient is in follow up. We conclude that this anomaly may be overlooked, interfering on its incidence determination. The finding of transverse vaginal septum in an asymptomatic infertility patient is highly unusual. Clinicians must be aware of atypical presentations and potential multifactorial etiologies of primary infertility. Ensuring a thorough evaluation is essential in order to mitigate long-term effects of a misdiagnosis.