The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype.

OBJECTIVES: The aims of this study were to determine the current pancreatic status of the entire cystic fibrosis (CF) population of Israel, to analyze the clinical characteristics of the pancreatic sufficient (PS) patients, and to characterize the correlation between pancreatic status, pancreatitis, and CF genotype. METHODS: The Israeli CF database includes 505 patients. These patients were defined as being PS or insufficient according to their fecal pancreatic elastase level or by coefficient fat absorption findings. Mutations were categorized as severe (DeltaF508, W1282X, G542X, S549R, N1303K, Q359K/T360K, 405+1G, and 1717) or mild/variable (3849+10 kb, D1152H, G85E, I1234V, R334W, and 5T) based on disease severity in patients carrying these mutations. Age at diagnosis, presenting symptoms, sweat-chloride concentrations, occurrence of pancreatitis, presence of diabetes, and liver disease were recorded. RESULTS: One hundred and thirty-nine (27.5%) of the CF patients were PS. None carried two mutations associated with severe disease. Over one third (34%) had normal or borderline sweat tests; 20 of these 139 patients had pancreatitis (14.3%) but none of the 366 pancreatic insufficient patients had it. Four initially PS patients became pancreatic insufficient: conversion followed several events of pancreatitis in three of them. Nasal potential differences were all pathological in 35 tested PS patients. None had either diabetes or liver disease. CONCLUSIONS: A substantial number of CF patients are PS. All of them carry at least one mild mutation enabling production of a sufficient amount of normal mRNA to maintain exocrine pancreatic function. Pancreatitis occurs only in CF patients who are PS. These patients are at risk of progressing to pancreatic insufficiency.

Role of transrectal ultrasonography in the evaluation of azoospermic men with low-volume ejaculate.

OBJECTIVE: The purpose of this prospective study was to evaluate the incidence of distal ejaculatory system defects with transrectal ultrasonography (TRUS) among patients evaluated for azoospermia. METHODS: Forty-two patients with low-volume ejaculate and azoospermia were evaluated by physical examination, serum follicle-stimulating hormone and luteinizing hormone level determination, karyotyping, selective screening for cystic fibrosis mutations, and TRUS. RESULTS: On physical examination, in 29 patients (69%), either 1 (12 patients) or both (17 patients) of the vasa deferentia could not be palpated. In the group of 17 patients with bilateral involvement of the vasa deferentia, the ultrasonographic imaging universally showed bilateral absence or hypoplasia of the seminal vesicles with bilateral agenesis of the vasa deferentia and nonvisualization of both ejaculatory ducts. In the patients with a unilateral abnormality on physical examination, the ultrasonographic imaging showed absence of the ipsilateral seminal vesicle in 7 patients and the hypoplastic seminal vesicle in 5. In the group of 13 patients with normal physical examination findings, a variety of obstructive causes were diagnosed by TRUS examination. CONCLUSIONS: According to this study, TRUS appears to be a sensitive method for evaluating the anatomy of the distal ejaculatory system. Its safety and low costs make it a good alternative to the other invasive and expensive methods.

Effects of intravesical chemotherapy and immunotherapy on semen analysis.

OBJECTIVES: To study the effect of intravesical chemo-immunotherapy on the sperm parameters of young patients. METHODS: Twelve young male patients with superficial transitional cell carcinoma, all younger than 40 years old at surgery, were included in this prospective study. The mean patient age was 34.8 years (range 22 to 40). Of the 12 patients, 8 had superficial transitional cell carcinoma, grade 2-3, and 4 had proven invasion to the lamina propria; 1 patient had accompanying carcinoma in situ. Accordingly, adjuvant intravesical treatment with either bacille Calmette-Guérin (BCG; 6 patients) or mitomycin C (6 patients) was indicated on the basis of the initial stage and grade. Sperm analysis was performed before bladder irrigation and subsequently 3 months after completion of intravesical therapy. RESULTS: All 12 patients had normal follicle-stimulating hormone and luteinizing hormone levels after surgery. All 12 patients had normal-volume ejaculate, except for 1 who had undergone multiple prior transurethral tumor resections. Of the 6 patients who were treated with mitomycin C, only a few minor insignificant changes in the sperm quality were noted, and 2 of them later fathered healthy children. However, in 3 of the BCG-treated patients, remarkable changes in all sperm quality parameters were evident, with a statistically significant decrease in the sperm count (P = 0.0021). CONCLUSIONS: We suggest that potential adverse effects on spermatogenesis can be induced by intravesical therapy with BCG and that, consequently, routine pretreatment semen preservation should be considered as a precaution before instillation of intravesical BCG to prevent subsequent fertility difficulties in young men.

Sonographic evidence of minimal and short-term testicular damage after testicular sperm aspiration procedures.

OBJECTIVE: To evaluate ultrasonically the incidence and duration of tissue damage after testicular sperm aspiration (TESA) procedures. DESIGN: Prospective, nonrandomized study. SETTING: Assisted reproductive technology program. PATIENT(S): Thirty-two men with obstructive azoospermia. INTERVENTION(S): Physical and serial testicular ultrasound examinations 1.5, 3, and 6 months after the surgical procedure. MAIN OUTCOME MEASURE(S): Systematic evaluation of the testicular parenchyma and blood flow. RESULT(S): In 93.7% of the patients (30 of 32), no evidence of parenchymal or vascular injuries was found 6 weeks after the procedure. In the remaining 2 patients, transient evidence of tissue damage disappeared after 3 months. CONCLUSION(S): Testicular sperm aspiration is a safe surgical method for sperm retrieval for IVF. Repeated surgical attempts might be considered within 2 months, provided there is no evidence for tissue damage on sonography.

[Sex reassignment surgery].

Israel is among the few countries in the world where sex reassignment surgery (SRS) is performed in public hospitals. Today, the only center performing SRS in Israel is the Sheba Medical Center. A multidisciplinary committee grants authorization permitting surgery after a follow-up period of two years. We found that this multidisciplinary approach leads to the best therapeutic results. We briefly present the pre-operative evaluation, operative approach, post-operative course, final results and complications of sex reassignment surgery. This article aims to inform physicians of this therapeutic option, and the indications for referral.