The Surgical Management of the Ambiguous Genitalia in 16 Cases / 대한비뇨기과학회지

PURPOSE: A change in gender assignment after 2 years of age is associated with severe psychological problems for the child and family. It is important that a definitive diagnosis be determined as quickly as possible. The treatment of ambiguous genitalia will be different by individual difference. We reviewed 16 cases of ambiguous genitalia patients with the object of encouraging early diagnosis and proper treatment individually. MATERIALS AND METHODS: We reviewed retrospectively 16 patients with ambiguous genitalia who were surgically managed at our department. Diagnostic workup included chromosomal analysis, blood and urine steroid measurement, hormonal study and radiologic study. The patients consisted of female pseudohermaphroditism in five cases, male pseudohermaphroditism in nine cases, true hermaphroditism and mixed gonadal dysgenesis in one case in each. The groups were analyzed according to karyotype, sex of rearing, age at diagnosis, age at operation, op procedure, post op complication and follow up. RESULTS: Five cases of female pseudohermaphroditism were raised as female in three cases and male in two cases, re-assigned and surgically corrected as four females and one male. Nine cases of male pseudohermaphroditism were raised as female in six cases and male in three cases, re-assigned and surgically corrected as three females and six males. One case of true hermaphroditism was surgically corrected as male. One case of mixed gonadal dysgenesis was surgically corrected as female and then given hormonal therapy. Four patients had sex conversion after 2 years of age. CONCLUSIONS: Though early diagnosis and treatment are most important, most patients were diagnosed and treated after 2 years of age. A continuous effort should be made to educate parents and alert attending physicians so that early diagnosis and treatment of these patients could be made as soon as possible.

Characteristics of Unilateral Cryptorchid Testes Treated by Orchiectomy : Analysis of 78 Cases / 대한비뇨기과학회지

No abstract available.

The Diagnosis of von Hippel-Lindau Disease Gene Carrier by DNA Polymorphism / 대한비뇨기과학회지

von Hippel-Lindau disease(VHL) is an autosomal dominant disorder, associated with tumors and cysts in multiple organ systems, whose expression and age of onset are highly variable There has been considerable progress in the molecular genetics of VHL disease. The VHL disease gene belongs to the family of tumor suppressor genes. The disease gene has been located in 6 to 8 centimorgan interval between RAF1 and D3S18, an anonymous DNA marker located at 3p26. It should be possible for the probe that flank the disease genes to identify carrier of the disease gene by DNA polymorphism analysis. We tested the feasibility of this approach by prospectively comparing the results of restriction fragment length polymorphism(RFLP) analysis with a comprehensive clinical examination in asymptomatic, at risk members of family with VHL disease. We found that RFLP analysis can distinguish VHL disease gene carriers from their healthy siblings. The result of this study suggests that the inheritance of the VHL gene was linked to RAF1. Deletions of chromosome 3p25-26 region were also detected in other VHL disease patient and a recurrent abortion case through karyotyping and RAF1 southern blotting. DNA polymorphism analysis can identify individuals likely to carry the VHL disease gene among asymptomatic members of disease families.

Availability of Lithoclast in Ureteroscopic Removal of Stone / 대한비뇨기과학회지

We evaluated the availability of Lithoclast in ureteroscopic removal of stone retrospectively. We treated 62 patients(68cases) with ureteral calculi using stone basket or Swiss Lithoclast lithotriptor with the rigid ureteroscope (URS) between December 1993 and February 1995. The success rates of URS were 93%(63/68), and Lithoclast use rates were 77%(52/68). According to stone site, Lithoclast use rates were 68%(28/41) in the lower ureter, 86%(12/14) in the mid, 92%(12/13) in upper ureter respectively. According to stone size, Lithoclast use rates were 50%(4/8) in less than 0.5cm, 75%(30/40) in 0.6-1.0cm, 89%(16/18) in 1.1-2.0cm, 100%(2/2) in above 2.0cm respectively The Lithoclast successfully fragmented stones. There were 5 failures of URS due to failure in access to stone by URS(4 cases), impacted stone(1 case). Reoperation consist of URS in 2 cases, ureterolithotomy in 2 cases and nephrectomy in 1 case. The complications of Lithoclast use URS were insignificant such as gross hematuria(3 cases), infection(2 cases), flank pain(1 case). There were no intraoperative or long term complications directly related to the use of this device. In conclusion, Swiss lithoclast lithotripsy significantly contributed to improve the success rates in treatment of ureteral stone, and is a safe, effective and inexpensive device.

Wilms' Tumor in the Neonate Detected by Prenatal Ultrasonography / 대한비뇨기과학회지

Recently, with the advent of prenatal ultrasonography, renal tumors in the neonatal period are diagnosed with increasing frequency. Detected most solid masses in the neonatal kidney will mostly be proven to be a congenital mesoblastic nephroma but a Wilms' tumor in the neonate is quite uncommon. We found a solid mass in the fetal left kidney at 39th week of gestation by prenatal ultrasonography. The infant, a healthy male in external appearance was delivered by Cesarean section at 40th week of gestation. At one day of age, we confirmed a left renal mass with ultrasonography and this neonate underwent left nephrectomy at nine days of age. The tumor was pathologically diagnosed as stage 1 with favorable histology of Wilms' tumor. Chemotherapy was performed postoperatively according to the EE-regimen of National Wilms' Tumor Studies (NWTS)-4 for 24 weeks. Now the patients is in good condition with no recurrence after postoperative 17 months.