A Case of Prader-Willi Syndrome with an Unusually Large 15q Deletion Due to an Unbalanced Translocation to Chromosome 2 45,XX,-15, der(2) t(2;15)(q37:q13)

Prader-Willi syndrome is a disease of chromosome 15, which is characterized by severe hypotonia and feeding difficulty in neonates, followed by development of obesity, mental retardation, and hypogonadism. Approximately 70% of the patients have a paternal deletion on chromosome 15q11-13, which is mainly a microdeletion, and a large deletion due to an unbalanced structural translocation of the proximal long arm of chromosome 15 to several other chromosomes is rarely found. We encountered a neonatal case with Prader-Willi syndrome who had sustained hypotonia and feeding difficulty. On high-resolution chromosome analysis, deletion of the short arm and the proximal part of the long arm of chromosome 15, with unbalanced translocation of the remaining part of chromosome 15(q13-qter) to the terminal part q37 of chromosome 2, was shown to be . Through FISH (Fluorescence in situ hybridization) and methylation-specific DNA PCR, we confirmed the deleted q11-13 was derived from the father.

A case of metastatic adenocarcinoma of bladder from stomach cancer / 대한비뇨기과학회지

Carcinoma of the bladder is a worldwide disease with several histological patterns, 0.5 to 2.0% of which are caused by adenocarcinomas. The etiology of adenocarcinoma of the bladder is unknown Adenocarcinoma of the bladder may be classified as primary, urachal or metastatic based on the site or tumor origin. The primary site of metastatic adenocarcinoma include the rectum, stomach, endometrium, breast, prostate and ovary. Metastasis to the bladder from adenocarcinoma is a relatively rare phenomenon occurring in only 0.26% of cases. When urologic symptoms newly developed to the patients who had malignancy of digestive organs, metastatic malignancy of urinary tact should be considered. Herein, we report a case of metastatic bladder tumor from gastric cancer which occurred 15 months after subtotal gastrectomy.

A clinical review on 33 cases of prostatic adenocarcinoma / 대한비뇨기과학회지

A clinical study was retrospectively made on 33 patients with prostatic adenocarcinoma who were admitted to the Department of Urology, Eulji General Hospital, Seoul and DaeJeon between May 1985 and April 1992. The results were as follows: 1. The age distribution range was from 47 to 86 years (mean age 68.2 years). 2. The major presentations were prostatism (69%), acute urinary retention, gross hematuria and pain. On digital rectal examination, 14 patients (42.4%) had hard nodules on the prostate, and 7 patients had multiple nodules. 3. The clinical stages were stage A in 2 cases, stage B in 3, stage C in 8, and stage D in 20. The grades were: grade I in 7 cases, grade II in 14 and grade III in 12. Distant metastasis was round in 28 patients (84.8%). The sites involved were bone in 20 patients, lymph node in 5 patients, lune, liver and kidney in 1 patient each. Skeletal sites most frequently involved were spine (65%), pelvis (55%) and rib (50%). 4. For the treatment of 28 patients, orchiectomy only (9), DES only (7), DES +orchiectomy (3), endocrine therapy(orchiectomy or DES) + irradiation (8) and radical prostatectomy + irradiation (1) were performed. 5. In the response rate of treated 28 patients, partial or stable response 12 cases (42.9%) and progression 16 cases(57.l%). 7 patients expired, the causes of death were multiple metastasis with cachexia (4), sepsis (2) and congestive heart failure (1).

Klinefelter's syndrome: 16 cases / 대한비뇨기과학회지

Klinefelter's syndrome is found very often among patients whose chief complaint is sterility or genital deformity. In order to discover the clinical manifestations of Klinefelter's syndrome as well as the proper treatment for it, we made some clinical observations. A total of 19 cases were found to have 47, XXY, a typical chromosomal pattern of Klinefelter's syndrome. Observation was made on the 16 cases whose clinical observation was possible. The patients' average age was 26, and their chief complaints were sterility, small testis, gynecomastia, impotence, and cryptorchidism. The testicular volume was under 5ml for all 16 cases. Nine patients who married were sterile and 6 were gynecomastia. The results of semen analysis showed azoospermia in all cases. The biopsy for the patient with cryptorchidism revealed hyalinized seminiferous tubules, thickened basement membrane, and hyperplasia of the interstitial cells. On the hormonal study, plasma FSH was 28.8-80.4 mIU/ ml (N:1-15 mIU /ml) and plasma LH was 18.1-152 mIU/ml (N:1-15 mIU/ml). The plasma testosterone was 0.7-3.8 ng/ml (N:3-10 ng/ml). Treatment was hormonal therapy with testosterone. For two patients who showed gynecomastia, mastectomy was performed. Orchiectomy was performed for one patient with cryptorchidism.

Studies on the histopathological changes in the human testis after vasectomy / 대한비뇨기과학회지

To determine the effect of vasectomy on the human testis, author compared testicular biopsy specimens from 27 healthy men undergoing vasectomy reversal with those from 21 healthy fertile volunteers. The data of the control group, those normal persons, were obtained from the other study. The qualitative and morphometric quantitative analyses were performed for the data obtained. The average age of the post-vasectomy group was 35.3+/-4.6 years old (29-48 years old). The mean duration of vasal obstruction was 48+/-34 months (3-144 months). The mean volume of testis was 19.0+/-3.3ml (12-25ml) for the right side and 18.7+/-3.5ml (15-25ml) for the left side at the time of vasovasostomy. Through the observation of the testicular biopsy, the decreased spermatogenesis was revealed in all 27 cases. Atrophic seminiferous tubules were observed in 24 cases (89.4%) and focal interstitial fibrosis was revealed in 7 cases (25.9%). seventeen cases (63.0%) showed Leydig cell hyperplasia. Maturation arrest and germ cell aplasia were not observed. Morphometric quantitative analyses revealed a significant increase in the mean thickness of seminiferous tubular walls to 16.0+/-2.1um (10.7-19.4um). Further, there were significant increases in the mean diameter of cross sectional seminiferous tubule to 223+/-19.0um (183-258um) and in the mean area to 37,300+/-6,200um2 (27,800-48,200um2). The mean numbers of mature spermatids and Sertoli cells were reduced significantly to 2418 (10-40) and 14+/-3 (8-22) respectively per tubular cross section. Person correlation were analyzed to find out whether age and duration of vasal obstruction had statistically significant correlations with each variables used to show the changes of testicular tissue in this study. While the tubular wall thickness. the cross sectional tubular area and the number of mature spermatids and Sertoli cells were not significantly correlated with the age and the duration of vasal obstruction (p>0.01), seminiferous tubular diameter showed significantly negative correlations with the age and the duration of vasal obstruction (p<0.01).The tubular diameter decreased as the age and the duration of vasal obstruction increased. It can be concluded that there would be significant histologic changes in the human testis after vasectomy.

Experience of Posterior Urethral Valves with Vesicoureteral Reflux / 대한비뇨기과학회지

A retrospective review was undertaken of 5 pediatric cases of posterior urethral valve with vesicoureteral reflux. The clinical data were summarized as follows : 1. At the time of diagnosis, patient age was recorded as 2 months, 3, 4, 13, and 14 years. Three cases presented with high fever, one with urinary dribbling and one with acute epididymitis. 2. Voiding cystourethrogram was abnormal in all cases, showing thickened, trabeculated bladder wall, dilatation of posterior urethra and vesicoureteral reflux. Vesicoureteral reflux was bilateral in 3 cases, unilateral in 2 cases and its degree was grade R-V/V in 8 renal units, grade E/V in one renal unit. 3. Initially transurethral valve ablation was performed in all cases, of which 2 had concomitant antireflux surgery and 3 had delayed ureteral reconstruction between one and 11 months after valve ablation. 4. Follow up duration was between 13 and 53months. In 4 cases, reflux disappeared and the pyelographic appearance markedly improved as regards pelvocalyceal and ureteral dilatation with improvement of general status at followup. But, in one case that had demonstrated bilateral high grade vesicoureteral reflux with sever ureteral dilatation and poor renal function, voiding symptom and radiologic appearance improved but left vesicoureteral reflux persisted by 13 months after reconstructive surgery.

A Case of Primary Transitional Cell Carcinoma in Bladder Diverticulum / 대한비뇨기과학회지

We report a case of primary transitional cell carcinoma developed in bladder vdiverticulum with brief review of literatures. Patient was a 71 year-old man who had painless gross hematuria for 10 days. Excretory urogram showe a large diverticulum in the bladder. At cystoscopy a 0.5 x 0.5cm sized papillary mass was seen on diverticular mucosa. Urine cytology revealed class V transitional cell carcinoma. At pelvic CT, metastatic evidence was not seen. We carried out partial cystectomy involving diverticulum under the diagnosis of primary transitional cell carcinoma developed in vesical diverticulum. The histopathologic diagnosis was grade III, stage A transitional cell carcinoma combining with carcinoma in situ.