RESUMEN
Hydrometrocolpos is a rare finding in newborns. It can be an isolated finding or may be associated with syndromes. Antenatal diagnosis is possible. It is due to the accumulation of secretion in the uterus, distending it and resulting in abdominal swelling. In case of suspected syndromes, an attempt should be made to look for other organ involvement and genetic diagnosis. We here report a term neonate with hydrometrocolpos, which was antenatally diagnosed and was managed conservatively.
Asunto(s)
Hidrocolpos , Anomalías Urogenitales , Enfermedades Uterinas , Embarazo , Recién Nacido , Humanos , Femenino , Hidrocolpos/diagnóstico por imagen , Diagnóstico Prenatal , Enfermedades Uterinas/diagnóstico , ÚteroRESUMEN
INTRODUCTION: Cloacal dysgenesis occurs from failure of embryological division of urogenital sinus and hindgut, leading to a single common perineal opening for genitourinary and gastrointestinal tracts. The prenatal diagnosis of cloacal malformation is imprecise, but the clinical correlation of postnatal findings to prenatal history can help reveal explanations for unusual pathological findings in patients with urogenital abnormalities. CASE PRESENTATION: A 21-year-old woman was referred after her 20-week ultrasound demonstrated anhydramnios and concern for dilated fetal bowel. Fetal MRI confirmed anhydramnios and a dilated fetal colon, in addition to hydronephrosis and a pelvic cyst. Repeat ultrasound at 27 weeks showed unexpected complete resolution of her anhydramnios but new fetal ascites. The newborn girl was postnatally diagnosed with a cloacal malformation and an unusual near-complete fusion of her labia. She underwent proximal sigmoid colostomy and a tube vaginostomy at birth followed by cloacal reconstruction at 1.5 years old. CONCLUSION: In female fetus with a pelvic cyst, one should have a high index of suspicion for cloacal anomaly and consider the possibility of urinary obstruction leading to alteration in amniotic fluid.
Asunto(s)
Quistes , Hidrocolpos , Oligohidramnios , Anomalías Urogenitales , Humanos , Embarazo , Recién Nacido , Femenino , Adulto Joven , Adulto , Lactante , Hidrocolpos/diagnóstico por imagen , Hidrocolpos/cirugía , Ultrasonografía Prenatal , Diagnóstico Prenatal , Anomalías Urogenitales/complicaciones , Anomalías Urogenitales/diagnóstico por imagen , Anomalías Urogenitales/cirugíaRESUMEN
We report the cases of two female newborns who present, at the first day, a interlabial mass. In both cases, the antenatal scans were normal, and the clinical examination in the delivery room didn't reveal any other abnormality. Similar features may suggest the same diagnosis. However, in the first case, it is a paraurethral cyst which causes the bulging of vaginal introitus whereas, in the second infant, it is an imperforated hymen. Paraurethral cysts are uncommon and even more so among infants. The diagnosis is primarily clinical, and ultrasound confirms the diagnosis and verifies the absence of other associated anomalies. These cysts usually resolve spontaneously. Rarely, they can lead to urinary retention. The second diagnosis, imperforate hymen, is the most common congenital malformation of the female genital tract. It can lead to hydrocolpos with the upstream accumulation of vaginal secretion and sometimes induce a hydrometrocolpos, with vaginal and uterine dilatation. The resulting mass can cause obstruction of surrounding urinary or digestive structures. Surgical management is generally necessary.
Nous rapportons le cas de deux nouveau-nés de sexe féminin qui présentaient une masse au niveau vulvaire, dans les premiers jours de vie. Dans les deux cas, le reste de l'examen clinique était sans particularité et aucune anomalie n'avait été décelée en anténatal. Les présentations cliniques semblables peuvent faire évoquer le même diagnostic. Pourtant, dans le premier cas, c'est un kyste para-urétral qui cause la masse alors que, dans le second, c'est une imperforation de l'hymen. Ces deux pathologies sont peu fréquentes chez les nourrissons. Leur diagnostic est avant tout clinique et l'échographie permet à la fois de confirmer celui-ci et de vérifier l'absence d'autres anomalies. La plupart du temps, les kystes para-urétraux régressent spontanément. Cependant, ils peuvent parfois être la cause d'une rétention urinaire. En cas d'imperforation de l'hymen, la réalisation d'un acte chirurgical est, par contre, nécessaire afin d'éviter des complications plus tardives. Un hydrocolpos peut y être associé, il est dû à la rétention de sécrétions vaginales en amont. La masse engendrée peut provoquer une obstruction des structures avoisinantes.
Asunto(s)
Quistes , Hidrocolpos , Enfermedades Uterinas , Quistes/diagnóstico por imagen , Femenino , Humanos , Hidrocolpos/diagnóstico por imagen , Himen , Lactante , Recién Nacido , Embarazo , UltrasonografíaRESUMEN
Hemato/hydrocolpos due to congenital urogenital anomalies are rare conditions discovered in neonatal, infant, and adolescent girls. Diagnosis is often missed or delayed owing to its rare incidence and nonspecific symptoms. If early correct diagnosis and treatment cannot be performed, late complications such as tubal adhesion, pelvic endometriosis, and infertility may develop. Congenital urogenital anomalies causing hemato/hydrocolpos are mainly of four types: imperforate hymen, distal vaginal agenesis, transverse vaginal septum, and obstructed hemivagina and ipsilateral renal anomaly, and clinicians should have adequate knowledge about these anomalies. This article aimed to review the diagnosis and treatment of these urogenital anomalies by describing embryology, clinical presentation, imaging findings, surgical management, and postoperative outcomes.
Asunto(s)
Hidrocolpos , Femenino , Humanos , Hidrocolpos/diagnóstico por imagen , Hidrocolpos/cirugía , Riñón/diagnóstico por imagen , Riñón/cirugía , Enfermedades Renales , Anomalías Urogenitales/complicaciones , Anomalías Urogenitales/diagnóstico por imagen , Anomalías Urogenitales/cirugía , Vagina/diagnóstico por imagen , Vagina/cirugíaRESUMEN
Imaging of the reproductive tract is challenging and requires a general knowledge of congenital variations in anatomy. The anatomy of the developing fetus, whether a male phenotype or female phenotype, is also a dynamic process with many changes occurring during gestation. Families may ask details about the genitalia during prenatal imaging and when variations in what is thought to be normal are present, further investigation is sometimes needed to make sense of what is seen. This overview will describe categories of disorders of sex development (DSD), whether chromosomal or structural or both, and the current state of imaging of these anomalies.
Asunto(s)
Trastornos del Desarrollo Sexual/diagnóstico por imagen , Feto/diagnóstico por imagen , Imagen por Resonancia Magnética , Ultrasonografía Prenatal , Hiperplasia Suprarrenal Congénita/diagnóstico por imagen , Ano Imperforado/diagnóstico por imagen , Extrofia de la Vejiga/diagnóstico por imagen , Cloaca/anomalías , Diagnóstico Diferencial , Femenino , Hernia Umbilical/diagnóstico por imagen , Humanos , Hidrocolpos/diagnóstico por imagen , Hipospadias/diagnóstico por imagen , Recién Nacido , Masculino , Embarazo , Escoliosis/diagnóstico por imagen , Anomalías Urogenitales/diagnóstico por imagenRESUMEN
BACKGROUND: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. SUBJECTS AND METHODS: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017). RESULTS: The median diagnosis was made at 30+4 weeks of gestation, the earliest at 20+6 weeks, the latest at 37+2 weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Küster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro)colpos. CONCLUSION: Hydro(me tro)colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro)colpos in the prenatal setting.
Asunto(s)
Trastornos del Desarrollo Sexual 46, XX/diagnóstico por imagen , Anomalías Múltiples/diagnóstico por imagen , Síndrome de Bardet-Biedl/diagnóstico por imagen , Anomalías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico por imagen , Hidrocolpos/diagnóstico por imagen , Conductos Paramesonéfricos/anomalías , Polidactilia/diagnóstico por imagen , Ultrasonografía Doppler Dúplex , Ultrasonografía Prenatal/métodos , Enfermedades Uterinas/diagnóstico por imagen , Adulto , Femenino , Alemania , Edad Gestacional , Humanos , Recién Nacido , Masculino , Conductos Paramesonéfricos/diagnóstico por imagen , Valor Predictivo de las Pruebas , Pronóstico , Estudios RetrospectivosRESUMEN
McKusick-Kaufman Syndrome (MKKS) is one of rare syndromes which presents as polydactyly, hydrometrocolpos (HMC) and cardiac anomalies. This autosomal recessive disorder occurs due to mutations in MKKS gene. It is characterised predominantly by genitourinary and digit abnormalities. The diagnosis can be made on clinical findings; however, it is important to rule out Bardet-Biedl syndrome before making the definitive diagnosis. Treatment of MKKS revolves around treatment of its manifestations and complications. We hereby report a case of neonate with features of MKKS.
Asunto(s)
Anomalías Múltiples/diagnóstico , Cardiopatías Congénitas/diagnóstico , Hidrocolpos/diagnóstico por imagen , Polidactilia/diagnóstico por imagen , Enfermedades Uterinas/diagnóstico , Anomalías Múltiples/diagnóstico por imagen , Femenino , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Hidrocolpos/diagnóstico , Recién Nacido , Polidactilia/diagnóstico , Enfermedades Uterinas/diagnóstico por imagenRESUMEN
Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both. We present a case of female patient with classical congenital adrenal hyperplasia, diagnosed on the 7th day of life, with ambiguous genitalia, untreated surgically only with hormone therapy by parental decision. The patient, at the age of 5 years and 5 months, came to our observation for a pelvic ultrasound, which revealed retrovesical neoformation with anechoic content and regular walls. We performed the ultrasound examination that showed the dilation of the cervix and the vaginal canal with anechoic finely corpuscolated content in the declining portion, compatible with hydrometrocolpos from probable persistence of the urogenital sinus. The voiding cystourethrography (VCUG) confirmed the ultrasound diagnosis, with evidence of urogenital sinus. In conclusion, ultrasound is the first diagnostic tool, but need to be completed by other technical procedures, which VCUG or magnetic resonance imaging to observe the site of fusion of the urinary and genital tract.
Asunto(s)
Hiperplasia Suprarrenal Congénita/complicaciones , Hidrocolpos/diagnóstico por imagen , Hidrocolpos/etiología , Anomalías Urogenitales/complicaciones , Enfermedades Uterinas/diagnóstico por imagen , Enfermedades Uterinas/etiología , Hiperplasia Suprarrenal Congénita/diagnóstico por imagen , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Preescolar , Diagnóstico Diferencial , Trastornos del Desarrollo Sexual/complicaciones , Trastornos del Desarrollo Sexual/diagnóstico por imagen , Femenino , Humanos , Ultrasonografía , Anomalías Urogenitales/diagnóstico por imagenRESUMEN
Congenital imperforate hymen is probably the most common obstructive anomaly of the female reproductive tract. The accumulation of fluid in the genital tract leads to a distended uterus and vagina, causing hydrometrocolpos. Prenatal diagnosis of fetal hydrometrocolpos is uncommon, with only 22 cases reported in the literature and only a few cases of prenatal imaging of this condition available to date. The main ultrasound finding is a fetal pelvic mass posterior to the bladder and anterior to the rectum. We present the case of a 37-week female fetus with a fetal pelvic mass detected in a routine obstetric ultrasound examination, and the correlation between the prenatal and postnatal findings.
Asunto(s)
Hidrocolpos/diagnóstico por imagen , Himen/anomalías , Trastornos de la Menstruación/diagnóstico por imagen , Ultrasonografía Prenatal , Adulto , Anomalías Congénitas , Femenino , Humanos , Hidrocolpos/complicaciones , Hidrocolpos/congénito , Himen/diagnóstico por imagen , Recién Nacido , Trastornos de la Menstruación/complicaciones , Trastornos de la Menstruación/congénito , EmbarazoRESUMEN
Persistent cloaca is a rare presentation wherein the urethra, vagina, and rectum converge into a common channel with a single perineal opening. Fetal hydrometrocolpos can result if fluid accumulates behind an obstruction of this common channel. A 29-year-old woman (G4P1021) was referred at 36 2/7 weeks of gestation for evaluation of a fetal abdominal cystic mass. Detailed ultrasonography and magnetic resonance imaging showed two symmetric cystic masses, bilateral hydronephrosis, and oligohydramnios. Elective cesarean delivery was performed at 37 0/7 weeks; the baby weighed 4043 g with Apgar scores of 5 and 6 at 1 and 5 min. Intubation was performed for respiratory distress, and the infant was noted to have an imperforate anus; persistent cloaca was diagnosed. Drainage of the hydrometrocolpos improved the infant's breathing remarkably, and extubation was achieved. This child's imaging findings are among the largest ever reported, and resulted in neonatal respiratory distress.
Asunto(s)
Anomalías Múltiples , Cloaca/anomalías , Enfermedades Fetales , Cardiopatías Congénitas , Hidrocolpos , Hidronefrosis , Oligohidramnios , Polidactilia , Diagnóstico Prenatal/métodos , Síndrome de Dificultad Respiratoria del Recién Nacido , Enfermedades Uterinas , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/cirugía , Adulto , Cloaca/cirugía , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/cirugía , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Humanos , Hidrocolpos/complicaciones , Hidrocolpos/diagnóstico por imagen , Hidrocolpos/cirugía , Hidronefrosis/complicaciones , Hidronefrosis/diagnóstico por imagen , Hidronefrosis/cirugía , Recién Nacido , Polidactilia/complicaciones , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Embarazo , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Síndrome de Dificultad Respiratoria del Recién Nacido/terapia , Enfermedades Uterinas/complicaciones , Enfermedades Uterinas/diagnóstico por imagen , Enfermedades Uterinas/cirugíaAsunto(s)
Trastornos del Desarrollo Sexual , Hidrocolpos/diagnóstico por imagen , Hidrocolpos/etiología , Himen/anomalías , Trastornos de la Menstruación/diagnóstico por imagen , Trastornos de la Menstruación/embriología , Diagnóstico Prenatal/métodos , Adulto , Cesárea , Anomalías Congénitas , Diagnóstico Diferencial , Femenino , Edad Gestacional , Humanos , Himen/diagnóstico por imagen , Himen/embriología , Himen/cirugía , Recién Nacido , Imagen por Resonancia Magnética , Trastornos de la Menstruación/cirugía , Embarazo , Ultrasonografía PrenatalRESUMEN
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.
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Trastornos del Desarrollo Sexual/diagnóstico , Hidrocolpos/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Pelvis/diagnóstico por imagen , Trastornos del Desarrollo Sexual/diagnóstico por imagen , Hidrocolpos/diagnóstico por imagen , Trastorno del Desarrollo Sexual 46,XY/diagnóstico por imagen , Abdomen/diagnóstico por imagenRESUMEN
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 multidisciplinar 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.
Asunto(s)
Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Trastornos del Desarrollo Sexual/diagnóstico , Hidrocolpos/diagnóstico , Abdomen/diagnóstico por imagen , Adolescente , Trastorno del Desarrollo Sexual 46,XY/diagnóstico por imagen , Trastornos del Desarrollo Sexual/diagnóstico por imagen , Femenino , Humanos , Hidrocolpos/diagnóstico por imagen , Masculino , Pelvis/diagnóstico por imagenRESUMEN
When a female is born and has only a single perineal orifice on the newborn clinical examination, a diagnosis of cloaca type of anorectal malformation is made. Along with associated malformations which may initiate the ordering of radiologic imaging, there are a finite number of radiologic tests that are performed to help in the immediate management of the patient with cloaca. The following discussion will outline the most important radiologic tests and demonstrate examples of images from newborn females with cloaca.
Asunto(s)
Malformaciones Anorrectales/diagnóstico por imagen , Cloaca/diagnóstico por imagen , Hidrocolpos/diagnóstico por imagen , Enfermedades del Recién Nacido/diagnóstico por imagen , Femenino , Humanos , Recién NacidoRESUMEN
We report the clinical details and imaging findings for a case of vesicovaginal reflux presenting as gross urocolpos in a 15-year-old female. Findings included a large fluid-filled vagina on full-bladder scan in the absence of any anatomical abnormality, which disappeared completely after micturition. It is important for radiologists to be aware of this entity as it is rarely encountered and leads to very confusing findings, which could result in an erroneous diagnosis.
Asunto(s)
Hidrocolpos/diagnóstico por imagen , Hidrocolpos/etiología , Enfermedades de la Vejiga Urinaria/complicaciones , Enfermedades de la Vejiga Urinaria/diagnóstico por imagen , Adolescente , Diagnóstico Diferencial , Femenino , Humanos , Hidrocolpos/orina , Tomografía Computarizada por Rayos X , Enfermedades de la Vejiga Urinaria/orina , Micción , Vagina/diagnóstico por imagenAsunto(s)
Hidrocolpos/diagnóstico por imagen , Himen/anomalías , Trastornos de la Menstruación/diagnóstico por imagen , Adulto , Anomalías Congénitas , Femenino , Humanos , Hidrocolpos/congénito , Hidrocolpos/cirugía , Himen/diagnóstico por imagen , Himen/cirugía , Recién Nacido , Trastornos de la Menstruación/congénito , Trastornos de la Menstruación/cirugía , Embarazo , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Persistent urogenital sinus is one of the rare urogenital anomalies, which commonly presents as hydrometrocolpos. Fetal urinary ascites as a presentation of persistent urogenital sinus is extremely rare. CASE REPORT: We report on a preterm infant with antenatal diagnosis of hydrometrocolpos and massive urinary ascites secondary to urogenital sinus without any bladder or renal abnormalities. CONCLUSION: This case report emphasizes the importance of maintaining a high index of suspicion in the diagnosis of persistent urogenital sinus especially in infants presenting with urinary ascites along with hydrometrocolpos.
Asunto(s)
Ascitis/orina , Colpotomía/métodos , Hidrocolpos/diagnóstico por imagen , Anomalías Urogenitales/diagnóstico por imagen , Vagina/diagnóstico por imagen , Fístula Vesicovaginal/diagnóstico por imagen , Adulto , Ascitis/congénito , Ascitis/diagnóstico por imagen , Femenino , Humanos , Hidrocolpos/congénito , Hidrocolpos/embriología , Recién Nacido , Embarazo , Ultrasonografía Prenatal , Anomalías Urogenitales/embriología , Anomalías Urogenitales/cirugía , Vagina/anomalías , Vagina/cirugía , Fístula Vesicovaginal/congénito , Fístula Vesicovaginal/cirugíaRESUMEN
Fetal ascites can occur due to many heterogeneous disorders. Its association with hydrometrocolpos because of persistent urogenital sinus and cloaca is extremely rare. A 29-year-old primigravida presented at 32 weeks of gestation with ultrasonographic evidence of fetal ascites, a cystic pelvic mass, hydronephrosis and oligohydramnios. Fetal ascites in this case was due to fetal urine draining through fallopian tubes into the abdomen as a result of vesicovaginal fistula and distal vaginal atresia. The antenatal ultrasound results along with autopsy findings are discussed. Though rare, a persistent urogenital sinus is to be suspected in isolated fetal ascites cases where the viral tests are negative and there is no evidence of cardiac anomalies as this is a treatable anomaly if diagnosed at early gestational age.
Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Ascitis/diagnóstico por imagen , Hidrocolpos/diagnóstico por imagen , Enfermedades Pulmonares/diagnóstico por imagen , Pulmón/anomalías , Oligohidramnios/diagnóstico por imagen , Vagina/diagnóstico por imagen , Fístula Vesicovaginal/diagnóstico por imagen , Adulto , Ascitis/congénito , Femenino , Enfermedades Fetales/diagnóstico por imagen , Edad Gestacional , Humanos , Hidrocolpos/congénito , Pulmón/diagnóstico por imagen , Embarazo , Tercer Trimestre del Embarazo , Ultrasonografía Prenatal , Anomalías Urogenitales/diagnóstico por imagen , Vagina/anomalías , Fístula Vesicovaginal/congénitoRESUMEN
Urorectal septum malformation sequence (URSMS) describes a range of anatomic anomalies in the urogenital and lower gastrointestinal organs caused by incomplete urorectal membrane septation and persistence of the cloacal membrane. Partial URSMS is a milder version characterized by a single perineal opening. We report a case of partial URSMS that associated an intact Mullerian system, single perineal opening, blind colon, imperforate anus and vagina, urethrovaginal connection, and ambiguous genitalia. Hydrocolpos, hydrometrocolpos, and ascites were seen in utero and confirmed on postnatal surgery. This case describes the changes in sonographic findings that evolved throughout the gestation.