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Abstract
1. 1. Congenital hydrocolpos is caused by a combination of vaginal obstruction and fetal cervical gland secretion caused by stimulus of the maternal hormones. 2. 2. The vaginal obstruction may be caused by atresia, imperforate hymen, or possibly by a congenital fold of tissue which causes a valvelike obstruction in a partially stenotic vagina. 3. 3. The most important factor in treatment of this anomaly is the establishment of a correct preoperative diagnosis. 4. 4. When the correct diagnosis is made, most of these patients will be cured by a relatively simple transperineal drainage procedure. 5. 5. Long-term follow-up is essential since the distended, hypertrophic vagina and the associated hydronephrosis tend to develop intercurrent infection during their slow return to normal.
... Hydrocolpos has been associated with urinary obstruction causing bilateral hydroureter and hydronephrosis. [3][4][5][6][7][8][9] When this is severe, there may be in utero oligo/anuria resulting in oligohydramnios. Some cases may be less severe and may present later in infancy as an abdominal mass with urinary retention and frequency. ...
... 3,6,7,9,24 -26 Nonlethal respiratory difficulties have also been reported and may be attributable to an abdominal mass effect with subsequent elevation of the diaphragm resulting in pulmonary compression. 4,[27][28][29][30][31] Antenatal Diagnosis of Hydrocolpos Shimada et al. 32 reviewed 45 fetuses with antenatal diagnosis of genitourinary abnormalities and oligohydramnios. The average gestational age at detection of the oligohydramnios was 30 weeks, as was our case. ...
... In some cases, the abdomen may be so distended as to cause dystocia at delivery. 4 In cases caused by imperforate hymen, there is generally a bulging seen at the vaginal introitus. On occasion, this may also occur with a low transverse vaginal septum, with these cases being misdiagnosed as an imperforate hymen. ...
This is a case report of an unusual cause of Potter sequence. Autopsy showed lethal pulmonary hypoplasia in association with a transverse vaginal septum, hydrocolpos, and a secondary obstructive uropathy.
... Fetal hydrocolpos is detected by ultrasonographic examination as a retrovesical cystic mass, and most cases are detected in the third trimester of pregnancy or after birth [7], although they are in some cases diagnosed as early as the second trimester [8]. Hydrocolpos results from obstruction at different levels of the vagina, and the fluid accumulation consists of cervical and vaginal secretions that develop secondary to circulating maternal estrogens [9,10]. Hydrocolpos occurs as a result of transverse vaginal septum, vaginal atresia, imperforate hymen, or cloacal anomaly. ...
Introduction Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome, also known as Herlyn-Werner-Wunderlich syndrome, is a rare syndrome characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal anomaly [1-3]. There are three reported cases of OHVIRA diagnosed in the neonatal period [4-6]. In all three cases, renal agenesis and/or retrovesical cyst were detected by prenatal ultrasound and MRI was performed after birth. Here the authors report the first case of OHVIRA diagnosed prenatally by fetal MRI. Case Report A 33-year-old woman, gravida 0, para 0, was referred to the present institution at 28 weeks' gestation because of a fetal pelvic cystic mass. Detailed ultrasonographic examination revealed a female fetus with a retrovesical cyst and right renal agenesis. At 35+4 weeks' gestation, MRI was performed for detailed evaluation of the fetal pelvis. MRI confirmed uterus didelphys, retro-vesical cyst measuring 23×17×33 mm, and right renal agenesis (Figure 1). Left renal length was 36×20 mm. The cyst was located between the bladder and rectum on T1-weighted image (T1WI), and was connected to the cervix of the uterus didelphys on steady-state free precession (SSFP) image, of which contrast reflected the T2/T1 ratio. Based on these findings, the cyst was thought to originate from the genital tract. In addition, the cyst was low intensity on T1WI and high intensity on SSFP, similar to amniotic fluid, suggesting the cyst contained serous fluid. Therefore the cyst was diagnosed as hydrocolpos: an expanded, fluid filled vagina. No anorectal anomalies were visualised. Thus the prena-tal diagnosis by fetal ultrasonographic examination and MRI was OHVIRA syndrome. The female infant weighing 2,645 grams with Apgar scores of 8 and 9 after one and five minutes, respectively, and umbilical ar-Summary The authors report the first case of prenatal fetal MRI diagnosis of unilateral hydrocolpos, uterus didelphys, and ipsilateral renal age-nesis in a case of obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome. A 33-year-old woman was referred to the present institution because of a fetal pelvic cyst. Detailed ultrasound revealed a female fetus with a retrovesical cyst and right renal age-nesis. Fetal MRI confirmed unilateral hydrocolpos, uterus didelphys, and normal intestinal tract of the fetus. Fetal MRI is a useful modality for prenatal diagnosis of OHVIRA as a method of evaluating the pelvic structures and excluding other cloacal anomalies.
... Congenital hydrocolpos is thought to be caused by a combination of vaginal obstruction and fetal cervical gland secretion caused by stimulus of maternal hormones [2]. Vaginal obstruction is caused by either imperforate hymen, occluding membrane at lower third of vagina, transverse vaginal septum or vaginal atresia. ...
... The accumulation of secretions causes distension of the obstructed uterus in puberty or in infancy due to the effect of maternal hormones. The resulting mass increases abdominal pressure and can cause respiratory compromise, edema from venous compression or hydronephrosis from ureteral compression (4). Emergency surgery may be necessary, and the complications can be life threatening. ...
McKusick-Kaufman syndrome is a human developmental anomaly syndrome comprising mesoaxial or postaxial polydactyly, congenital heart disease and hydrometrocolpos. This syndrome is diagnosed most frequently in the Old Order Amish population and is inherited in an autosomal recessive pattern with reduced penetrance and variable expressivity. Homozygosity mapping and linkage analyses were conducted using two pedigrees derived from a larger pedigree published in 1978. The PedHunter software query system was used on the Amish Genealogy Database to correct the previous pedigree, derive a minimal pedigree connecting those affected sibships that are in the database and determine the most recent common ancestors of the affected persons. Whole genome short tandem repeat polymorphism (STRP) screening showed homozygosity in 20p12, between D20S162 and D20S894, an area that includes the Alagille syndrome critical region. The peak two-point LOD score was 3.33, and the peak three-point LOD score was 5.21. The physical map of this region has been defined, and additional polymorphic markers have been isolated. The region includes several genes and expressed sequence tags (ESTs), including the jagged1 gene that recently has been shown to be haploinsufficient in the Alagille syndrome. Sequencing of jagged1 in two unrelated individuals affected with McKusick-Kaufman syndrome has not revealed any disease-causing mutations.
... Hydrocolpos is vaginal distension with fluid accumulation due to a combination of stimulated secretory glands and vaginal obstruction [1]. The fluid accumulation can also be due to the presence of urogenital sinus with collection of urine. ...
Introduction. Neonatal hydrocolpos is a rare condition. Hydrocolpos is cystic dilatation of the vagina with fluid accumulation due to a combination of stimulation of secretary glands of the reproductive tract and vaginal obstruction. The differential for a neonatal presentation of lower abdominal mass includes urogenital anomalies, Hirschsprung's, disease or sacrococcygeal teratoma. Prenatal diagnosis and early newborn imaging studies leads to early detection and treatment of these cases. Case. We report here two cases of neonatal hydrocolpos with prenatal diagnosis of lower abdominal mass. Postnatally, ultrasound, MRI imaging, and cystoscopy confirmed large cystic mass as hydrocolpos with distal vaginal obstruction. Both patients had enlarged renal system secondary to mass effect. Conclusion. High index of suspicion for hydrocolpos in a newborn presenting with fetal diagnosis of infraumbilical abdominal mass will facilitate timely intervention and prevention of complications.
... The accumulation of secretions causes distension of the obstructed uterus in puberty or in infancy due to the effect of maternal hormones. The resulting mass increases abdominal pressure and can cause respiratory compromise, edema from venous compression or hydronephrosis from ureteral compression (4). Emergency surgery may be necessary, and the complications can be life threatening. ...
McKusick-Kaufman syndrome is a human developmental anomaly syndrome comprising mesoaxial or postaxial polydactyly, congenital heart disease and hydrometrocolpos. This syndrome is diagnosed most frequently in the Old Order Amish population and is inherited in an autosomal recessive pattern with reduced penetrance and variable expressivity. Homozygosity mapping and linkage analyses were conducted using two pedigrees derived from a larger pedigree published in 1978. The PedHunter software query system was used on the Amish Genealogy Database to correct the previous pedigree, derive a minimal pedigree connecting those affected sibships that are in the database and determine the most recent common ancestors of the affected persons. Whole genome short tandem repeat polymorphism (STRP) screening showed homozygosity in 20p12, between D20S162 and D20S894 , an area that includes the Alagille syndrome critical region. The peak two-point LOD score was 3.33, and the peak three-point LOD score was 5.21. The physical map of this region has been defined, and additional polymorphic markers have been isolated. The region includes several genes and expressed sequence tags (ESTs), including the jagged1 gene that recently has been shown to be haploinsufficient in the Alagille syndrome. Sequencing of jagged1 in two unrelated individuals affected with McKusick-Kaufman syndrome has not revealed any disease-causing mutations.
A female infant with McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula is presented. To the best of our knowledge, this is the second report in the literature of this association.
Two cases of congenital hydrometrocolpos had a previously unemphasized complication: The genital secretions had spilled through the tubes into the peritoneal cavity prenatally producing a plastic peritonitis. This produced a completely different clinical and radiologic picture than usually seen, making diagnosis difficult. One appeared to have duodenal obstruction; the other case mimicked retroperitoneal neoplasia with ascites and inferior vena cava obstruction. Plastic peritonitis should be incorporated into the list of complications of congenital hydrometrocolpos with the corresponding widening of the radiologic, pathologic, clinical and surgical differential diagnoses.
Vaginal duplication with uterus didelphys is a rare anomaly in which unilateral obstruction of either vaginal orifice may result in hydrocolpos but with normal-appearing external genitalia in the female newborn. We recently treated 2 female infants with this anomaly who presented with a lower abdominal mass that persisted after bladder drainage. Both infants had evidence of urological abnormalities on the side ipsilateral to the obstructed vagina. One infant had renal agenesis and 1 had severe renal dysplasia. Owing to the high incidence of associated renal abnormalities excretory urography, voiding cystourethrography and abdominal ultrasound are essential to the evaluation. Precise diagnosis and careful evaluation are mandatory to avoid unnecessary loss of essential normal müllerian structures.
The presenting features and associated abnormalities of imperforate hymen and vaginal atresia were studied in 24 girls under the age of 16 years. Hydrocolpos or hydrometrocolpos occurred in 8 infants, 13 older girls developed haematocolpos, but 3 of the girls had no distension of the genital tract. Seven of the older girls were diagnosed as having appendicitis. Anorectal anomalies were present in 9 of the children. Intravenous pyelography was performed on 16 girls and was normal in only one. Urinary tract investigations are indicated in all girls with vaginal outlet obstruction, and the vaginal orifice should be inspected in all girls with anorectal abnormalities.
An infant was found to have the previously known manifestations of the Kaufman syndrome (hydrometrocolpos, postaxial polydactyly, and congenital heart disease) but also imperforate anus, malrotation of gut, congenital hip dislocation, and urogenital sinus. All of these anomalies have been separately reported in other cases of the syndrome. Three previously unreported problems present in this case were choanal atresia, pituitary dysplasia, and vertebral anomalies; these may well be component manifestations of the syndrome and not sporadic occurrences in our patient. Of particular clinical importance were the hypoglucocorticism and the hypoglucocorticism secondary to the pituitary dysplasia.
Hydrometrocolpos-polydactyly syndrome is reported in a 30 weeks macerated female foetus. The literature on this subject is reviewed.
Nine cases with the hydrometrocolpospolydactyly syndrome (4 males, 5 females) from four unrelated families are presented. Leading symptoms of this rare disorder were hydrocolpos and postaxial polydactyly. Three affected girls had urinary hydrocolpos without vaginal septum or imperforate hymen, one had partial vaginal atresia, and one had no hydrometrocolpos. Glandular hypospadias and prominent scrotal raphe are added to the spectrum of malformations in this disorder in males. The literature is reviewed and problems in genetic counseling in this autosomal recessive disorder are discussed.
Two cases of hydrocolpos are described presenting soon after birth. One infant who died on the first day had an intrauterine peritonitis caused by compression of the caecum on the pelvic brim. The other surviving infant developed a caecal perforation secondary to Hirschsprung's disease. Neither infant had rectal atresia, which is the commonest cause of intestinal obstruction in these infants. The association of hydrocolpos with polydactyly in one of these cases may represent an autosomal recessive trait.
Congenital imperforate hymen is an external urogenital anomaly that has a small differential diagnosis. With careful antenatal sonographic evaluation of the female perineum, identification of a thin protruding membrane consistent with imperforate hymen can be made.
We report a case in which an imperforate hymen was diagnosed in a fetus at 25 weeks' gestation. It appeared as a thin membrane that distended the vagina and spread the labia majora because of retained secretions. An associated renal abnormality was present, representing either a right multicystic dysplastic kidney or cystic dysplasia.
Imperforate hymen and hydrocolpos can be diagnosed as early as the second trimester. Because of the additional renal anomaly in this case, it is suggested that the presence of prenatally diagnosed imperforate hymen warrants a careful survey of the remaining fetal anatomy to rule out associated abnormalities. The possibility of a familial occurrence should be considered, and the appropriate history should be obtained.
Introduction
Giant non cloacal neonatal hydrocolpos is a rare entity where early recognition of the underlying cause and drainage of the distended vagina is paramount. Conventionally, immediate management has been by abdominal tube vaginostomy or, in urogenital sinus by vaginal clean intermittent catheterisation (CIC). Though effective in providing temporary relief, the abdominal tube vaginostomy is replete with complications, making it imperative to search for alternatives. Here we describe our method of emergent and definitive management of these children, where definitive repair, depending on the aetiology, has been made possible in a single stage.
Material and methods
Seven girls who presented primarily or with history of giant non cloacal neonatal hydrocolpos at two tertiary care centres from January 2013 to March 2021 were studied retrospectively. None had imperforate anus or a bulging hymenal membrane. Four had high vaginal atresia (VA) and three had Urogenital sinus (UGS), one with high confluence.
Four girls (2 VA, 2 UGS) presented to us as neonates and were managed by emergency drainage procedures other than tube vaginostomy: CIC in one (low UGS) and a novel abdominoperineal U flap vaginoplasty in three (2 VA, 1 high confluence UGS) which was also the definitive procedure. This procedure involved fashioning an inferiorly based inverted U flap from the posterior wall of distended vagina which is tubularised and flipped down by an abdomino-perineal procedure. The girl with a low UGS later underwent a perineal procedure.
Three presented elsewhere as neonates (2 VA, 1 UGS) and had abdominal tube vaginostomy as the emergency drainage procedure. This was complicated by tube dislodgement and pyocolpos till successful reconstruction was performed by us. Successful reconstructions included the abdominoperineal U flap vaginoplasty in one (VA) and a perineal procedure in another (low UGS). One girl with high VA had an inflamed vagina after tube vaginostomy, precluding the U flap vaginoplasty, and underwent abdominal vaginal mobilisation and pull through complicated by partial vaginal necrosis with septic complications.
Results
Reconstruction resulted in a patent and a good calibre neo-vagina in all at a mean follow up of 48 months.
Conclusion
Graphical Abstracta) MRI of giant neonatal hydrocolpos with bilateral HUN and raised serum creatinine. b) Posterior vaginal inverted U flap to create an adequate vaginal tube to reach the perineum. c) Neo-vaginal outlet providing satisfactory resolution of hydrocolpos in the neonatal period and beyond. d) Follow up picture after five years
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Mucometrocolpos is the distention of the uterus and vagina caused by obstruction to the drainage of genital secretions. Although most cases of mucometrocolpos are sporadic, it may be part of an autosomal recessive condition, known as McKusick-Kaufman syndrome (MKS), including postaxial polydactyly and congenital heart disease as main findings. The diagnosis may be difficult when the presence of additional findings creates an overlap with other syndromes. We report on a female infant with mucometrocolpos, postaxial polydactyly, congenital heart disease, short limbs, short ribs, and chest constriction. The clinicopathological findings are described and discussed in the context of the phenotypic spectrums of MKS and mucometrocolpos concomitant with Ellis van Creveld syndrome.
“Syndrome fever” is a term used to characterize the prolific publication of “new” human congenital malformation syndromes in the last decade. One way to manage syndrome fever, that is, to assimilate and utilize efficiently its valuable informational by-product, is to create nosologic communities composed of member-syndromes which have close general and specific phenotypic similarities. The phenotypic community approach to human mal-formation syndrome taxonomy is applicable to rare, family-specific syndromes, to well-known syndromes that have achieved firm, independent identities, and to mixtures of the two. A community of six syndromes, four of them apparently rare, is proposed. All share uterovaginal malformation, but neither this type nor any other single type of malformation is essential for a syndrome to merit membership in the community. Five of the six syndromes have distinc-tive and and/or foot malformations. Four of the six share malformations of the urinary tract; in a fifth urinary incontinence probably reflects a subtle dysmorphism. Three of the six syndromes have anomalies of the aural appa-ratus; in two this involves an association between severe renal dysgenesis and middle ear ossicle defects. The sharing of similar malformations involving several systems suggests that the respective causes of the syndromes act on the same developmental pathway(S). All six syndromes have occurred in a familial distribution; four are probably determined by major mendelian genes. Malformations of the axial skeleton are rare, but those of the distal extremities are common, in the familial syndromes belonging to the group. The reciprocal tendency is found in sporadic occurrences of severe uterovaginal dysgenesis (Rokitansky-Küster-Hauser syndrome) and in those with so-called nonspecific female pseudohermaphroditism.
Hydrocolpos is characterized by a vaginal obstruction with cystic dilatation of the vagina. The latter is usually caused by accumulation of cervical and endometrial mucus but in rare instances urine is accumulated through a vesicovaginal fistula proximal to the obstruction. Hydrocolpos and hydrometrocolpos may be associated with other malformations, such as postaxial polydactyly, anal atresia, esophageal atresia, renal agenesis, genital anomalies, and cardiopathy. Each neonate presenting with hydrocolpos should be evaluated for other clinically silent malformations, such as hamartoblastoma of the hypothalamic region. We report a patient with urinary hydrocolpos and cloacal malformation; it is the first case of hydrocolpos with pre-axial polydactyly. We briefly describe embryogenesis of the different types of vaginal obstruction and discuss prenatal and neonatal diagnosis and differential diagnosis.
Hydrometrocolpos is a rare congenital disorder consisting of cystic dilation of the vagina and uterus and accumulation of mucus secretions resulting from genital tract obstruction. The obstruction can be produced by imperforate hymen, transverse vaginal membrane, or some degree of vaginal atresia. Excessive intrauterine stimulation of the cervical mucus glands by circulating maternal estrogens produces the accumulated fluid. This was first described by Godfroy in 1856. Only sporadic cases were reported until 1940, when Mahoney and Chamberlain presented their definitive descriptions of the condition. Since then 200 cases have been presented or reviewed in the literature. Hydrocolpos or hydrometrocolpos commonly first appears either in the neonatal period or at menarche. This report describes the antenatal sonographic detection of a cystic pelvic mass subsequently proved to be hydrocolpos in a fetus with ambiguous genitalia and uterovaginal duplication. Few reports on the prenatal diagnosis of hydrometrocolpos by ultrasonography have been published. Davis and coworkers were the first to describe the antenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen. Hill and Hirsch reported an additional case of fetal hydrocolpos, also caused by imperforate hymen, detected by sonography, and Russ and colleagues described a case of hydrometrocolpos occurring with uterus didelphys and septate vagina detected in utero. Our case is notable for the association of fetal ascites and uterovaginal duplication in a patient with persistent urogenital sinus.
The aim of this study was to demonstrate the clinical results of postoperative evaluation for a consecutive series of cases of imperforate hymen presenting at a tertiary medical center during an over 14-year period. We retrospectively reviewed the clinical records of 15 patients with imperforate hymen that had undergone hymenectomy between 1987 and 1998. After completing a questionnaire via a telephone interview regarding sexuality, fertility, menstrual problems, micturition and defecation after surgical correction, those patients were persuaded to come back to the hospital for further gynecological surveys during 2002. The mean postoperative follow-up was 8.5 years (range, 4-14 years). The mean age at diagnosis was 13.2 years (range, 11-16). The most common clinical symptom was cryptomenorrhea (15), followed by pelvic pain (11), palpable abdominal mass (9), urinary retention and other voiding problems (8) and problems of defecation (4). None admitted intercourse attempts before. Two patients also had uterine anomalies, but none had urinary tract or bowel anomalies. During the follow-up period, we found that the majority of patients had irregular menstrual cycles and were worried about their future fertility. Six patients suffered from dysmenorrhea; of 11 patients who began having intercourse two later delivered babies, and none complained of sexual dysfunction. After hymenectomy, the women with imperforate hymen were markedly relieved of cryptomenorrhea, and problems of micturition and defecation also greatly improved. Although complaints of irregular menstruation and dysmenorrhea gradually evolved as the center of attention during follow-up, most patients fared well in terms of fertility and sexual function.
Neonatal infravesical obstruction in females is less common than in boys and rarely reported. In this article, we report on 3 cases of infravesical obstruction in female neonates with different etiologies. We also reviewed the literature on this topic. Including our cases, 17 cases of neonatal infravesical obstruction in girls have been reported. Neonatal infravesical obstruction in females has different underlying pathology compared to boys with congenital tumors being more common in girls. A high index of suspicion is essential for early recognition and management.
Pyocolpos is a rare complication of hydrocolpos. Hydrocolpos usually presents during adolescence and is associated with an imperforate hymen. The following is a case of a 3-month-old girl with pyocolpos. Her history was significant for a urinary tract infection (UTI) at 7 weeks of age. The authors believe that her UTI was caused by urinary retention secondary to hydrocolpos. A complete evaluation may have prevented the complication of pyocolpos.
The unique clinical syndrome of uterus didelhphys with an obstructed hemivagina and ipsilateral renal agenesis, presenting as acute abdomen in three pubertal girls, is reported. Accurate preoperative diagnosis and appropriate treatment will offer relief of symptoms and decrease morbidity and unnecessary procedures.
We have studied an infant with respiratory distress, absent fifth rays of the hands, and hydrometrocolpos. Congenital absence of the fifth ray of the hand is a rare malformation. In some syndromes the ulnar defects are symmetrical; however, as an isolated anomaly the defects are usually asymmetric. This patient's malformations appear to be unique in that the ulnar ray was affected bilaterally, with an associated genital malformation.
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.
The ultrasonography let us to know the fetal anatomy and it makes possible to diagnose many abnormalities. These are frequents in the gastrointestinal tract and the possibility to confuse with physiological features is very high because many fetal structures appear late in pregnancy. The association of these abnormalities with others is very frequent and also genetics alterations are presents. The benefit of the diagnosis is very important because it makes possible to study the fetal gene and to speak with parents about the future outcome of the newborn.
From the mofecular refractions of various organic boron compounds, calculations have been made of the refraction of the bonds of the boron atom with carbon, oxygen, nitrogen, sulfur, and chlorine.
Hydrocolpos is characterized by a vaginal accumulation of cervical and vaginal secretions. It often occurs in newborn child and infant. Imperforate hymen is frequently associated; in rare instances, complete higher vaginal diaphragm or partial vaginal atresia is diagnosed. Hydrocolpos can be treated by hymenectomy using imperforate hymen. Because of additional malformation, the treatment can be more complex for vaginal obstruction. The authors report a series of four patients with hydrocolpos: three neonates and one 2-month old infant. Ultrasonography confirmed the physical findings. Three patients with imperforate hymen underwent hymenectomy in X. The fourth which had a virginal atresia and pyocolpos drainage was treated using celioscopy. The three first patients outcome was favorable except for the patient with pyocolpos who died with septicemia.
This case highlights the importance of careful evaluation of girls presenting with imperforate hymen as this is accompanied by other female reproductive tract anomalies. It is of utmost importance that a correct timely diagnosis is made so that the right treatment can be chosen with the perspective of future fertility. Cervical dysgenesis associated with vaginal septum and imperforate hymen has not been reported in literature so far. Present case highlights the simple mode of management with a successful outcome.
Keywords: cervical dysgenesis; imperforate hymen; transverse vaginal septum.
Hydrocolpos and the hydrometrocolpos are anomalies resulting from vaginal and uterine retention and accumulation of cervicovaginal secretions caused by congenital malformation. It is a rare pathology affecting the female newborn and infant and much less often young girls. It appears clinically as an abdominal mass associated with absence or abnormality of the vaginal opening. The diagnosis is confirmed by abdominal echography and CT scan. Treatment varies from the simple X-shaped hymenotomy for the isolated imperforate hymen to major surgery for substantial retentions and complex urogenital abnormalities. The authors report two cases of hydrocolpos and hydrometrocolpos discovered in the neonatal period. These were two newborn babies resulting from poorly followed pregnancies at which the clinical examination noted in both cases a large abdominal mass. The physical examination, imagery and surgical exploration demonstrated the existence of enormous hydrocolpos with imperforate hymen in 1 case and hydrometrocolpos with distal vaginal atresia in the second case. The treatment consisted of draining the secretions for both patients, after an X-shaped hymenotomy for the first and after section anastomosis of the vaginal atresia for the second. Both cases progressed favorably.
Copyright © 2012 Elsevier Masson SAS. All rights reserved.
Three cases of hydrometrocolpos in infants are presented, which demonstrate that despite thorough documentation of the clinical findings, the misdiagnosis and the ensuing mismanagement of this condition remain a problem. The presence of other genitourinary abnormalities and the association with anomalies of the anorectal area make it imperative that these infants be evaluated, treated and followed by clinicians who are skilled in these areas. Introital revision may proceed at an early age to avoid the necessity of repeated drainage procedures and allow normal voiding but close followup is necessary.
A male infant with features of the Kaufman-McKusick syndrome and a previously unstated association with Hirschsprung's disease is described.
A case of hydrocolpos in a neonate is reported. The importance of early diagnosis and appropriate treatment is stressed in the light of complications reported in the literature.
We report on a case of duplicated hydrometrocolpos with uterus didelphys, a septate vagina, lower vaginal atresia, a persistent urogenital sinus, left ear agenesis, a single umbilical artery, and an imperforate anus, but without the associated features of McKusick–Kaufman syndrome such as polydactyly and congenital heart defects. Ultrasound-guided fluid aspiration of the fetal intrapelvic cystic mass helped to decompress the distended genital organs, decrease the severity of the urinary tract obstruction, delineate the ultrasonographic image of duplicated hydrometrocolpos to differentiate it from other intrapelvic cystic masses, and obtain fluid for cytological analysis.
Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). We review reported cases of MKS and BBS presenting with HMC and PAP early in life to determine if there are clinical features that allow discrimination between the two syndromes as the primary features of retinitis pigmentosa, obesity, learning disability in BBS are age-dependent. We did not find any phenotypic features that allowed reliable differentiation between the two syndromes in the neonatal period. However, uterine, ovarian, and fallopian tube anomalies are more common in BBS patients, and it may be that these clinical features prove to be useful discriminating features. We conclude that sporadic female infants with HMC and PAP cannot be diagnosed with MKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients. Am. J. Med. Genet. 95:208–215, 2000. Published 2000 Wiley-Liss, Inc.
We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side of the umbilicus. © 2011 Wiley Periodicals, Inc. J Clin Ultrasound, 2011
A newborn female infant presented with a lower abdominal mass and sepsis. Radiologic and ultrasonic studies established the diagnosis of pyocolpos. Surgical drainage was successfully carried out. Hydrocolpos is an uncommon anomaly resulting from imperforate hymen or atresia of the vagina. It usually presents in the first few weeks of life as an asymptomatic abdominal mass or with symptoms due to compression of adjacent structures by the enlarged vagina. Rarely, pyocolpos results from an infected hydrocolpos, usually associated with vaginal atresia rather than imperforate hymen. It may cause life-threatening sepsis; early diagnosis and prompt surgical drainage are therefore essential. The infant described demonstrates the diagnostic approach and the management of pyocolpos.
This article illustrates causes of pelvic pain in girls and women that may be inadequately diagnosed by ultrasound (US) and more adequately assessed by magnetic resonance imaging (MRI). We describe MRI features necessary for detecting disease and helpful in differential diagnosis. Special attention is paid to correlating age and pathology by subdividing the population into four categories: girls up to prepubertal age, pubertal girls, women of reproductive age and postmenopausal women. US is the first-line imaging modality in children and women with pelvic pain, and computed tomography (CT) is usually requested, especially in emergency settings, in patients in whom US is inadequate for diagnosis. However, MRI should be considered at least in urgent, if not in emergent, care given the wide range of female pelvic disorders that can be correctly assessed thanks to the excellent soft-tissue contrast, high spatial resolution and ability to depict blood products. Moreover, MRI should be preferred in children and women of reproductive age because of the absence of radiation exposure.
Hydrometrocolpos is the result of an obstruction of the genital tract by an intact hymen, a midplane transverse septum, cloacal anomalies or vaginal atresia. This obstruction allows an accumulation of secretions from the infant cervical mucous glands in the vagina and uterus stimulated by maternal oestrogen (Wilson et al, 1978; Nyberg, 1990).
The incidence is reported to be between one in 16 000 births (Westerhout et al, 1964) and one in 30 000 births (Hill & Hirsch, 1985). Although several cases of hydrometrocolpos have been reported in the world literature (Mahoney & Chamberlain, 1940; Spencer & Levy, 1962; Reed & Griscom, 1973), there are very few reports of the ultrasonographic appearances of this condition (Sailer, 1979; Sawhney et al, 1990).
We present two cases of hydrometrocolpos which showed classical ultrasound features and review the literature on the subject.
A 1-day-old white girl, the product of a normal pregnancy and delivery, presented with a fluctuating mass protruding from the vagina. Clinical examination revealed a palpable abdominal mass and a swollen labia. An ultrasound of the abdomen and pelvis was performed using a 5 MHz probe. A 6 cm × 4 cm cystic left adnexal mass was demonstrated with no posterior acoustic enhancement. The mass contained several internal echoes (Fig. 1). The bladder was not distended and therefore not seen, but both kidneys were normal. The vaginal membrane was incised and 150 ml of milky white fluid was expelled.
Hydrocolpos should be considered systematically when an abdominopelvic cystic mass is diagnosed in a female fetus. Because the prognosis and neonatal management of isolated hydrocolpos with spontaneous resolution differs greatly from that of hydrocolpos associated with a cloacal malformation, it is important to ascertain prenatally whether there are associated anomalies. We report the prenatal characteristics of three fetuses with hydrocolpos; in two cases there was spontaneous resolution and one infant was born with digestive tract atresia. The principal ultrasound findings were an oblong anechoic pelvic mass with or without a sagittal septum, located behind a normal bladder. On magnetic resonance imaging (MRI), the cervical imprint on the vagina confirmed the diagnosis of hydrocolpos and helped to diagnose cloacal malformation by demonstrating the absence of meconium beside the bladder on T1 sequences. Our cases show that MRI is useful for differentiating isolated hydrocolpos from hydrocolpos associated with cloacal malformation.
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