Cloacal anomalies are very rare congenital malformations with the incidence of 1/50,000-250,000 births. Hydrocolpos involves the dilatation of the vagina due to obstruction of the genital tract, leading to accumulation of secretions. Because of wide spectrum of abnormal anatomy involving urogenital and gastrointestinal systems, prenatal diagnosis is difficult. As ultrasound becomes more and more reliable, prenatal diagnosis is possible as early as in the second trimester. The presence of prenatally detected hydro (metro) colpos warrants a systematic evaluation of fetal and neonatal anatomy to rule out a large variety of possibly associated malformations or syndromes. We present a case of urogenital sinus maldevelopment which was initially presented as a fetal ascites.
Ascites ; Dilatation ; Female ; Humans ; Hydrocolpos ; Incidence ; Parturition ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis ; Ultrasonography* ; Vagina

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.
Drainage ; Female ; Follow-Up Studies ; Gynecological Examination ; Humans ; Hydrocolpos* ; Hydronephrosis ; Infant ; Pregnancy ; Ultrasonography

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.
Diagnosis ; Diagnostic Imaging ; Female ; Genitalia ; Humans ; Hydrocolpos* ; Hymen ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Pelvis* ; Teratoma* ; Ultrasonography ; Uterus ; Vagina

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.
Anus, Imperforate ; Child ; Cloaca ; Colostomy ; Cystostomy ; Drainage ; Follow-Up Studies ; Humans ; Hydrocolpos ; Parturition ; Retrospective Studies ; Sepsis ; Urinary Bladder ; Vagina

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.
Autopsy ; Cardiovascular System ; Central Nervous System ; Cesarean Section ; Cloaca* ; Emergencies ; Female ; Gastrointestinal Tract ; Hydrocolpos* ; Hydronephrosis ; Membranes ; Pregnancy ; Respiratory System ; Ultrasonography ; Urinary Tract

Herlyn-Werner-Wunderlich syndrome(HWWs) is a rare variant of Mullerian ductal anomalies characterized by the presence of a hemivaginal septum, a didelphic uterus, and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain, and palpable mass due to hemihematocolpos. If a cystic mass is detected behind the urinary bladder in children, in association with the absence of a kidney, the diagnosis of uterus didelphys with imperforate vagina and hydrocolpos should be considered. When renal agenesis is found in asymptomatic children, the small size and the tubular shape of the uterus makes it almost impossible to evaluate uterine anomalies, so follow-up should be performed until the end of puberty. Appropriate preoperative diagnosis and treatment will prevent unnecessary procedures and offer relief of symptoms. We report one case of didelphic uterus with blind hemivagina and ipsilateral renal agenesis with biopsy-proven thin glomerular basement membrane disease which is not related to the above syndrome.
Adolescent ; Child ; Diagnosis ; Female ; Follow-Up Studies ; Glomerular Basement Membrane* ; Humans ; Hydrocolpos ; Kidney ; Menarche ; Pelvic Pain ; Puberty ; Unnecessary Procedures ; Urinary Bladder ; Uterus* ; Vagina

Persistent cloaca is a very rare congenital anomaly with a single common perineal opening for the genital urinary and gastrointestinal tract, which is caused by abnormal formation of the urorectal septum. It has an incidence of 1 in 50,000 to 1 in 125,000 births and is much more common in females and in twin pregnancies. Pathologic findings of persistent cloaca include dilated bowel, hydrocolpos, urethral obstruction, hydronephrosis and oligohydramnios caused by obstruction of the bladder, vagina and intestine. Failure of the paired m llerian ducts to fuse also usually results in duplication of the uterus and vagina. Currently, the diagnosis depends on the prenatal sonography but the diagnosis may be very difficult due to the complex nature of the anomaly and variable appearances. We present a case of persistent cloaca with one opening confirmed by autopsy after therapeutic termination which was initially diagnosed by prenatal sonography.
Autopsy ; Cloaca* ; Diagnosis ; Female ; Gastrointestinal Tract ; Humans ; Hydrocolpos ; Hydronephrosis ; Incidence ; Intestines ; Oligohydramnios ; Parturition ; Pregnancy ; Pregnancy, Twin ; Urethral Obstruction ; Urinary Bladder ; Uterus ; Vagina

PURPOSE: To understand the modulation of genes by atrophy, differential expression of genes in normal and denervated skeletal muscle was investigated by DNA chip technology. MATERIALS AND METHODS: Sciatic nerve and femoral nerve were resected in right leg of rat to make the muscle atrophy model. Muscle tissues from the gastrocnemius of normal and denervated legs were homogenized and RNA were extracted. Dyes were labelled during reverse transcription and hybridization was done into the DNA chip which is consisted of about 5,000 probes. RESULTS: By statistical analysis, 39 genes were selected as differentially expressed genes by atrophy. 15 known genes up-regulated by atrophy were genes related to immune response, extracellular matrix, andsignal transduction in plasma membrane. 7 known genes down-regulated by atrophy were genes related to cell growth and proliferation, intracellular signal transduction, and energy metabolism. Some unknown gene functions were analysed by bioinformatics analysis and they were highly homologous genes with McKusick-Kaufman syndrome protein, ADP-ribosylation factor-like 4, and component X of pyruvate dehydrogenase complex. CONCLUSION: These results suggest that reduction of energy metabolism, activation of cholesterol exclusion, and changes on signal transduction pathway are involved in the process of atrophy by denervation in skeletal muscle of rat.
Abnormalities, Multiple ; Animals ; Atrophy ; Cell Membrane ; Chimera ; Cholesterol ; Coloring Agents ; Computational Biology ; Denervation ; Energy Metabolism ; Extracellular Matrix ; Femoral Nerve ; Gene Expression ; Heart Defects, Congenital ; Hydrocolpos ; Leg ; Muscle, Skeletal ; Muscles ; Muscular Atrophy ; Oligonucleotide Array Sequence Analysis ; Oxidoreductases ; Polydactyly ; Pyruvic Acid ; Rats ; Reverse Transcription ; RNA ; Sciatic Nerve ; Signal Transduction ; Uterine Diseases

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.
Abnormalities, Multiple ; Anal Canal ; Bardet-Biedl Syndrome ; Child ; Cystoscopy ; Female ; Foot ; Hand ; Heart Defects, Congenital ; Humans ; Hydrocolpos ; Hydronephrosis ; Infant, Newborn ; Intensive Care, Neonatal ; Kidney ; Learning Disorders ; Magnetic Resonance Imaging ; Metacarpal Bones ; Metatarsal Bones ; Obesity ; Palate, Soft ; Polydactyly ; Renal Insufficiency ; Retinal Diseases ; Uterine Diseases