Riñón pélvico fusionado con uréter único, hidrometrocolpos y ano imperforado: conjunción de malformaciones infrecuentes en una adolescente / Pancake kidney with a single ureter, hydrometrocolpos, and imperforate anus: a set of uncommon malformations in a female adolescent

Una niña de 11 años de edad con antecedentes de ano imperforado, infección urinaria y episodios de constipación intermitentes se presentó a la consulta con cólicos abdominales y náuseas de una semana de evolución. Estudios radiológicos revelaron hidrometrocolpos y fusión renal pélvica con uréter único hidronefrótico. El examen vaginal evidenció un tabique transverso no permeable. Se evacuó temporalmente la colección con resolución de los síntomas. La paciente fue programada para cirugía vaginal reconstructiva definitiva. Se destaca en este caso no solo la asociación de malformaciones infrecuentes, sino una sintomatología muy común en la práctica pediátrica a causa de una patología rara vez considerada en el diagnóstico diferencial, y la importancia de una evaluación precoz y completa de este tipo de malformaciones para un tratamiento oportuno.

An 11-year-old girl with a history of imperforate anus, urinary tract infection, and intermittent episodes of constipation presented with abdominal pain and nausea for 1 week. The x-rays revealed hydrometrocolpos and fused pelvic kidney with a single hydronephrotic ureter. The vaginal examination revealed a non-permeable transverse vaginal septum. The collection was temporarily drained and symptoms resolved. The patient was scheduled for definitive vaginal reconstructive surgery. In this case, it is worth noting the association of infrequent malformations and also the signs and symptoms very common in pediatric practice due to a pathology rarely considered in the differential diagnosis, and the importance of an early and complete assessment of this type of malformations for a timely treatment.

Diagnóstico y manejo de Himen Imperforado en una lactante menor / Diagnosis and management of Imperforated Hymen in an infant

INTRODUCCIÓN: El himen imperforado es la malformación congénita más frecuente del tracto genital femenino. La mayoría de los casos no se pesquisan en la infancia, debido a un examen genital insuficiente. Su diagnóstico y resolución deben ser precoces y definitivas para evitar complicaciones posteriores. OBJETIVO: Presentar el caso de una lactante portadora de himen imperforado, y actualizar la información sobre las técnicas de examen genital para detectar esta patología en forma precoz y su tratamiento. CASO CLÍNICO: Lactante de 3 meses, consultó por aumento de volumen protruyente en la zona del introito. En el examen físico se realizó maniobra de valsalva que dio salida a una masa homogénea, nacarada de superficie lisa, entre los labios mayores, sugerente himen imperforado. Se complementó el estudio con ultrasonido ginecológico, el que demostró la presencia de hidrocolpos, descartando otras anomalías. Se realizó una himenotomía, que dio salida a abundante material seroso, sin mal olor, y luego se completó la himenectomía mediante la resección de la membrana himeneal. En control al 4to mes posterior a la intervención se constató un himen ampliamente permeable. CONCLUSIÓN: Los equipos de atención neonatal, requieren capacitación acerca de la técnica correcta del examen genital externo de la recién nacida y lactante. La himenectomía es la técnica que permite resolver definitiva mente el cuadro evitando complicaciones.

INTRODUCTION: Imperforated hymen is the most frequent congenital malformation of the female genital tract. Most cases are not investigated in childhood, due to an insufficient genital examination. Its diagnosis and resolution must be early and definitive to avoid subsequent complications. OBJECTIVE: A clinical case of an infant with imperforated himen is presented. To update on genital examination technique necessary to detect this pathology in the newborn and infants, and the proper treatment. CLINICAL CASE: 3-months-old infant that consulted due to an increase in bulging volume in the introitus area. In the physical examination, the Valsalva's maneuver was performed allowed the ex pulsion of a homogeneous pearly mass with a smooth surface, between the labia majora, suggesting imperforate hymen. The study was complemented with gynecological ultrasound, which demons trated the presence of hydrocolpos, ruling out other anomalies. A hymenotomy was performed, which allowed for the evacuation of abundant serous material, with no bad smell, and then the hymenectomy was completed by resection of the hymenal membrane. In follow-up monitoring 4 months after the intervention, a widely permeable hymen was found. CONCLUSION: Neonatal care teams require training on the correct technique of external genital examination of the newborn and infant. Hymenectomy is the technique that allows definitely resolving the condition, avoiding complications.

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

ABSTRACT Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.

Congenital Hydrocolpos Mimicking a Mature Cystic Teratoma in the Pelvis

Neonatal hydrocolpos is a rare condition that involves fluid accumulation in the vagina. On diagnostic imaging, the dilated vagina, along with the compressed uterus, can simulate a mature cystic teratoma with a mural nodule. Herein, we report the case of a newborn girl with congenital hydrocolpos that was caused by an imperforate hymen; the hydrocolpos mimicking a mature cystic teratoma on abdominal ultrasonography and magnetic resonance imaging. Any newborn girl with a pelvic cystic mass should be suspected as having a congenital vaginal obstruction manifesting as hydrocolpos or hydrometrocolpos. Thorough examination of the external genitalia, as well as imaging of the uterus and vagina, enables correct diagnosis and optimal treatment.

Vaginal ectopic ureter diagnosed by magnetic resonance imaging in a child with complete transverse vaginal septum and hydrocolpos

Ectopic ureter draining into the vagina is a rare cause of urinary incontinence. Some cases have been reported in association with malformations of the genitourinary tract, but very few published cases are associated with vaginal septum. Our article describes the case of a girl who presented with hydrocolpos shortly after birth and was found to have a complete transverse vaginal septum. Despite successful correction of this genital anomaly, the patient developed persistent dribbling of clear fluid from the genital area. Extensive testing revealed unilateral kidney dysplasia and probable genital ectopia of the corresponding ureter. Magnetic resonance imaging (MRI) showed insertion of the ureter into the upper third of the vagina. The patient underwent nephroureterectomy of the dysplastic kidney with subsequent improvement in urinary incontinence. Ureteral ectopia is difficult to diagnose with conventional imaging methods (plain radiography, ultrasound, and CT). MRI has proved to be an excellent method for assessment of genitourinary tract conditions, particularly when other diagnostic modalities have failed or are limited, due to the high resolution of MRI scans and the possibility of native image acquisition on all three orthogonal planes. MRI is the best diagnostic modality for visualization of the course and insertion of ectopic ureters, and enables precise surgical correction.

Casos clínicos: hidrocolpos secundario a reflujo vesicovaginal / Hydrocolpos caused by vesicovaginal reflux

The presence of fluid in the vaginal cavity, hydrocolpos, is uncommon to see during a pelvic ultrasound. The causes can be obstructives or not, like de vesicovaginal reflux (VVR). Objective: Report a case and the differential diagnosis of a hydrocolps in a teenage girl during a pelvic ultrasound. Case: A 13 yo girl, obese, Tanner III of pubertal development in a study for primary amenorrhea. The ultrasound shows a vaginal collection that disappeared after voiding. Non obstructive cause was confirmed with MRI. Conclusions: The pelvic ultrasound evaluation of a hydocolpos must be done with full bladder follow by a postvoid study to rule out a hydrocolpos ocurring without anatomical obstruction, which the VVR it is the most probable cause...(AU)

Introducción: La distensión de la vagina por acumulación de líquido en su interior, hidrocolpos, es un hallazgo infrecuente durante la realización de una ultrasonografía ginecológica pelviana (USG). Puede deberse a causas obstructivas y no obstructivas, dentro de las cuales se encuentra el reflujo vesico vaginal (RVV).Objetivo: Reportar el hallazgo e interpretación de un hidrocolpos en una adolescente durante la realización de USG ginecológica pelviana. Caso Clínico: En el estudio por amenorrea primaria y dolor pelviano de una adolescente obesa de 13 años, estadio Tanner III se pesquisa en el USG pelviano un hidrocolpos. Se repite evaluación post miccional, desapareciendo la colección. Mediante RNM se descarta malformación genital obstructiva. Conclusión: La evaluación ultrasonográfica de un hidrocolpos, debe realizarse con vejiga llena y luego vacía para descartar una causa no obstructiva en cuyo caso la etiología más probable es el RVV...

Enfrentamiento clínico del hidrocolpos a diferentes edades pediátricas / Clinical management of hydrocolpos at different pediatric ages

INTRODUCCIÓN Y OBJETIVOS: El hidro y/o hematocolpos es una condición patológica rara, de incidencia 1/16.000 niñas, que consiste en la dilatación de vagina y/o útero por material líquido o hemático. Sus diferentes formas de presentación y especialmente al grupo etario que afecta, puede ser un diagnostico no siempre fácil como también un manejo inadecuado puede determinar diferentes complicaciones de diversa gravedad. El objetivo de este trabajo es analizar los casos tratados en el servicio de urología pediátrica de acuerdo al grupo etario que correspondió su debut clínico. Material y métodos: Estudio retrospectivo de pacientes con diagnóstico de hidro o hematocolpos entre los años 2007 y 2011. Se analizan datos demográficos, patologías asociadas, tratamiento y complicaciones. Resultados: Se analizaron 8 niñas, todas con ambigüedad genital al nacer, 7 con hiperplasia suprarrenal congénita. En 6 pacientes se realiza examen endoscópico bajo anestesia general que confirma la presencia de un seno urogenital (SUG) a una edad promedio de 36 meses (r 3m-12a). La edad promedio de presentación del hidrocolpos fue de 6 años (r 1m - 14 a) con un peak entre los 0-2 años y a los 11-14 años, diagnóstico confirmado mediante ecografía. Otras patologías asociadas fueron: cardiopatía congénita (1) e ITU recurrente (5). Una paciente presentó una sobreinfección del hidrocolpos con shock séptico asociado. En dos pacientes (11 y 14 años) se ha realizado el descenso en bloque, 3 pacientes se drena el hidrocolpos por vía endoscópica (cistoscopía). Conclusiones: El hidrocolpos es una patología rara, pero que se debe tener presente especialmente en diagnostico prenatal y/o recién nacidos que se estudian por masa pelviana y/o abdominal, en pacientes con SUG; ya que su detección precoz y tratamiento pueden evitar consecuencias graves como shock séptico de origen uroginecológico.

INTRODUCTION AND OBJECTIVES: hydro and / or hematocolpos are a rare pathological condition, incidence 1/16.000 girls, which involves dilation of vagina and / or uterus with hematic fluid or material. Due to its different forms of presentation and especially the affected age group, diagnosis may not always be easy as improper Management can determine different complications of varying severity. The aim of this paper is to analyze the cases treated in our pediatric urology service according to age group of clinical debut. Material and methods: Retrospective study of patients diagnosed with hydro or hematocolpos between 2007 and 2011. Demographics, co morbidities, treatment and complications were analyzed. Results: 8 girls, all with ambiguous genitalia at birth, 7 with congenital adrenal hyperplasia were analyzed. In 6 patients endoscopic examination performed under general anesthesia confirmed the presence of a urogenital sinus (SUG) at an average age of 36 months (r 3m-12a). The average age of hydrocolpos presentation was 6 years (r 1m - 14) with a peak between 0-2 years and 11-14 years, confirmed by ultrasound diagnosis. Other associated diseases were: congenital heart disease (1) and recurrent UTI (5). One patient had a superinfection of hydrocolpos associated with septic shock. In two patients (11 and 14y.o.) an “en bloc” descent was performed, in 3 patients the hydrocolpos was drained endoscopically (cystoscopy). Conclusiones: hydrocolpos is a rare condition, but it must be especially considered in prenatal diagnosis and / or infants studied by pelvic and / or abdominal mass, in patients with SUG, as early detection and treatment can prevent serious consequences as septic shock of urogynecological origin.

Clinical experience with persistent cloaca / 대한외과학회지

PURPOSE: Persistent cloaca is one of the most severe types of anorectal malformation. Appropriate initial drainage is difficult due to their various malformations and hydrocolpos or dilated urinary bladder. Corrective surgery also differs among individual patients. We describe our experiences with the surgical management of children with persistent cloaca. METHODS: We retrospectively reviewed 16 children diagnosed with persistent cloaca at Asan Medical Center. RESULTS: Sixteen patients were managed in their neonatal period. Twelve patients had enlarged bladder or vagina at birth. Three patients, who did not undergo cystostomy or vaginostomy at first operation, had earlier complications after surgery or required drainage tube insertion. One patient who did not undergo hydrocolpos drainage died of sepsis and complications. Nine patients underwent corrective surgery; posterior sagittal anorectovaginourethroplasty using the Pena method. Three patients required additional operations due to complications after surgery. CONCLUSION: Patients found to have anatomical malformations before colostomy, as well as hydrocolpos and bladder enlargement, require a vaginostomy with or without a cystostomy to reduce complications. Follow-up is required in patients with hydrocolpos and bladder enlargement to determine whether vaginal drainage improves dilated bladder. Continuous long-term follow-up examination is required to determine the long-term results of corrective surgery.

Hidrocolpos neonatal / Neonatal hydrocolpos

Se presenta el caso de un recién nacido del sexo femenino, raza blanca, hija de matrimonio no consanguíneo e historia familiar negativa de defectos congénitos, a quien se detectó, a las 62 h de nacida, una tumoración de aproximadamente 2 cm de diámetro, de aspecto deslustrado, renitente, que protruía a través del introito vaginal al llanto. Se realizó valoración conjunta con especialistas en cirugía pediátrica, urología pediátrica, ginecoobstetricia, radiología, genética clínica y cardiología, y se iniciaron los estudios necesarios. Se diagnosticó un hidrocolpos neonatal por himen imperforado. Se realizó una himenotomía al cuarto día de vida y se evacuó abundante cantidad de secreción seromucosa. Se dio el alta a la paciente con 16 días y evolución satisfactoria. Se realiza una caracterización clínica de la patología y se ofrece una revisión actualizada sobre el tema. Se presentan además fotografías del caso.

This is the case of a white female newborn, child of a non-consanguinity married couple and a with negative family history of congenital defects in whom at 62 hours of born a dull, renitent tumor of almost 2 cm diameter, and protruding through the vaginae introitus when she cried was detected. Authors made a joint assessment with specialists in pediatric and urology surgery, gynecology-obstetrics, radiology, clinical genetics and cardiology. A hymenotomy was performed at 4 days of life voiding an abundant amount of seromucous secretion. Patient was discharged at 16 days and a satisfactory course. A clinical characterization of pathology was made offering an updated review on thus matter. Photographies from this case are showed.

Volumoso hidrocolpo em neonato: relato de caso / Newborn hydrocolpos secondary to congenital imperforate hymen: a case report

Os autores relatam um caso de hímen imperfurado congênito determinando volumoso hidrocolpo em recém-nascido. Esta anomalia é uma condição rara, pois a maioria dos casos de hímen imperfurado é diagnosticada na fase pré-púbere com o atraso da menarca. O objetivo deste relato é demonstrar os achados ultrassonográficos do hidrocolpo no recém-nato e realizar uma breve revisão de literatura sobre o assunto. É de fundamental importância nestes pacientes o rastreamento de outras malformações congênitas que podem estar associadas ao quadro.

The authors report a case of newborn hydrocolpos secondary to congenital imperforate hymen. This anomaly is a rare condition, since most cases of imperforate hymen are diagnosed in the prepubertal period with the delay of menarche. The objective of this report is to demonstrate ultrasound findings of newborn hydrocolpos and make a review of literature about it. It is vital to search other congenital malformations that may be associated.

A Case of Persistent Cloaca with Hydrocolpos / 대한산부인과학회잡지

Persistent cloaca is a very rare congenital anomaly with a single common perineal opening for the genital, urinary and gastrointestinal tracts, which arises from defects in the embryonal process of descent of urorectal septum or fusion to cloacal membrane. Anomalies associated with persistent cloaca are found in the upper urinary tract, gastrointestinal tract, cardiovascular system, central nervous system and respiratory system, which are not easily detected through ultrasound during pregnancy. It has been reported that if those anomalies are diagnosed early, they can be corrected surgically. We present a case of persistent cloaca with hydrocolpos confirmed by autopsy after emergency cesarean section which was initially presented as a huge abdominal cystic mass and bilateral hydronephrosis by ultrasound at 34 weeks of gestation.

A Case of Neonatal Hydrocolpos due to Vaginal Atresia

A 37-week gestation female neonatal infant presented with lower abdominal distension. Ultrasonography showed a hydrocolpos, measuring 8.3 cm x 6.9 cm x 6.1 cm in size and on perineal examination, vaginal atresia was noticed. On a follow-up ultrasonography performed 41 days after aspiration, the hydrocolpos was enlarged to 10 cm x 8 cm x 7 cm in size, and compressed adjacent small bowel significantly with concomitant bilateral hydronephrosis. Temporary tubed vaginostomy was carried out with the provision of excellent drainage and easy access for contrast studies to outline the pathologic anatomy. We are planning to perform vaginal reconstructive surgery on her age around 2 years, when her vaginal structure might grow sufficiently for reconstructive surgery.