Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis is a rare congenital anomaly. Excision of the obstructed vaginal septum is the treatment of choice for symptom relief and the preservation of reproductive capability. A 14-yr-old girl complained of persistent vaginal spotting following each menstruation. Pelvic magnetic resonance imaging revealed a uterus didelphys with left hematocolpos and ipsilateral renal agenesis. Instead of conventional transvaginal excision of the vaginal septum, we used hysteroscopic excision under transabdominal ultrasonographic guidance to preserve the integrity of the hymen. The postoperative course was uneventful, and clinical symptoms were completely resolved after this intervention. Resectoscopic excision of the vaginal septum was found to be easy, safe, effective, and appropriate for young women as it preserved hymen integrity. We believe that this is the first Korean report on the use of a hysteroscopy for vaginal septum resection in a patient with uterus didelphys with obstructed hemivagina.
Adolescent ; Female ; Humans ; Hysteroscopy/*methods ; Kidney/abnormalities ; Urogenital Abnormalities/surgery ; Uterus/*abnormalities ; Vagina/*abnormalities/*surgery/ultrasonography

Abnormalities, Multiple ; Anus, Imperforate ; Humans ; Infant ; Kidney ; abnormalities ; Male ; Rectum ; abnormalities ; Urethra ; abnormalities

Horseshoe kidney and retrocaval ureter are uncommon congenital anomalies of the genitourinary system that are easily diagnosed by typical imaging features. Both anomalies presenting in one patient is a rare disease characterized by isthmus of horseshoe kidney between the abdominal aorta and inferior vena cava. The clinical diagnosis and treatment of horseshoe kidney with retrocaval ureter remain a challenge. Here, we reported a case of a 44-year-old man with the two anomalies who was preoperatively diagnosed by unenhanced computed tomography scanning immediately after retrograde pyelography. The literatures on such combined anomalies are reviewed and the diagnostic evaluation and surgical management of this rare entity are discussed.
Adult ; Humans ; Kidney ; abnormalities ; surgery ; Male ; Ureter ; abnormalities ; surgery

Excessive proliferation of peripelvic fat of the kidney simulating a peripelvic tumor is a rare condition. Excessive proliferation of peripelvic fat of the kidney is a benign process with an innocuous effect on the patient but this condition may produce pyelocalyceal deformities that may be mistaken for pelvic or peripelvic neoplasm. We report a case of excessive proliferation of peripelvic fat of the kidney simulating a peripelvic liposarcoma in 63-year-old-man, who was treated by radical nephrectomy. Pathologic findings revealed excessive proliferation of peripelvic fat in the resected kidney postoperatively.
Congenital Abnormalities ; Humans ; Kidney* ; Liposarcoma* ; Nephrectomy

Seminal vesicle cyst (SVC) with ipsilateral renal agenesis is a rare congenital anomaly. When the patient is symptomatic, surgical treatment may be necessary. The open surgical approach, traditionally considered the definite form of treatment, has been associated with a high rate of morbidity. The laparoscopic approach for the management of SVCs has recently been described. A 18-year-old man presented with a 2-year history of dysuria and perineal pain. The diagnostic evaluation revealed a 45x35x48 mm sized left seminal vesicle cyst. In addition, he had a solitary, right, functioning kidney, with left renal agenesis. Transperitoneal laparoscopic excision of the cyst was performed successfully. The patient was discharged from the hospital on the fourth postoperative day and did not present with any complaints or complications.
Adolescent ; Congenital Abnormalities ; Dysuria ; Humans ; Kidney ; Kidney Diseases ; Seminal Vesicles

Humans ; Infant, Newborn ; Kidney ; abnormalities ; Male ; Polycystic Kidney Diseases ; congenital

Congenital Abnormalities ; pathology ; Endometrial Neoplasms ; pathology ; Female ; Humans ; Kidney ; abnormalities ; pathology ; Kidney Diseases ; congenital ; pathology ; Middle Aged ; Mullerian Ducts ; abnormalities

OBJECTIVE: To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome. METHODS: Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband and his parents. Suspected variants were subjected to bioinformatics analysis with consideration of the clinical phenotype, and were verified by Sanger sequencing of the proband, fetus and their parents.The remainders were used for the extraction of RNA, and the mechanism of splicing variant was validated by reverse transcription-PCR (RT-PCR). RESULTS: WES showed that both patients have carried c.175C>T (p.R59X) and c.553+1G>A compound heterozygous variants of the TMEM237 gene. Among these, c.175C>T was a nonsense mutation inherited from the asymptomatic mother, while c.553+1G>A was an alternative splicing mutation inherited from the asymptomatic father. RT-PCR showed that this variant has resulted in aberrant splicing by exon skipping. CONCLUSION The compound heterozygous variants of the TMEM237 gene probably underlay the etiology of Joubert syndrome in this pedigree. Above finding has enriched the phenotype and variant spectrum of the TMEM237 gene, and facilitated genetic counseling and prenatal diagnosis for the family.
Abnormalities, Multiple/genetics* ; Cerebellum/abnormalities* ; Eye Abnormalities ; Female ; Genotype ; Humans ; Kidney Diseases, Cystic ; Mutation ; Pedigree ; Phenotype ; Pregnancy ; Retina/abnormalities*

The unique clinical syndrome of the uterus didelphys, a unilateral partially or completely obstructed vagina, and ipsilateral renal agenesis is quite rare, and observed on the right side in greater frequency than on the left. The case of fifteen year old girl with uterus didelphys, unilateral partially obstructed vagina and acute renal failure associated with ureteral stone in unilateral kidney is described. Extracorporealshock wave lithotripsy (ESWL) and evacuation of the hematocolpos and excision of the vaginal septum were done. Aware of this relatively rare condition is mainstay of prompt diagnosis which will prevent permanent renal failure and unnecessary and destructive surgery.
Acute Kidney Injury ; Congenital Abnormalities ; Female ; Hematocolpos ; Kidney ; Kidney Diseases ; Lithotripsy ; Renal Insufficiency ; Ureter ; Uterus ; Vagina

We present a case of vaginal ectopic ureter with ipsilateral partial duplication of the upper ureter (Y-type ureter), ipsilateral hypoplastic pelvic kidney and bicornuate uterus in a 20-year-old woman who presented with mild urinary incontinence since infancy. Ultrasonography, computed tomography and intravenous pyelography examination showed a left kidney with no evidence of a right kidney. Cystourethroscopy showed absence of the right hemitrigone. Magnetic resonance (MR) urography demonstrated the presence of a bicornuate uterus, an ectopic dysplastic right kidney in the pelvic cavity, and a right ureter that terminates in the vaginae fornix. The patient underwent right nephroureterectomy and urinary continence was restored completely. Although congenital malformations of the urinary tract are frequently associated with genital tract abnormalities, to best our knowledge, this is the first report of the coexistence of all of these anomalies in an individual. Our report also highlights the importance of MR urography in the diagnosis of such rare and complex anomalies.
Female ; Humans ; Kidney ; abnormalities ; pathology ; Kidney Diseases ; diagnosis ; pathology ; Magnetic Resonance Imaging ; Ureter ; abnormalities ; pathology ; Urinary Incontinence ; etiology ; Uterus ; abnormalities ; pathology ; Vagina ; abnormalities ; pathology ; Young Adult