[Morphologic changes in the penis. Impotence coeundi without erectile dysfunction]. / Alteraciones morfológicas del pene. Impotencia coeundi sin disfunción eréctil.

Erectile dysfunction is not the only cause of impotence in the male; impotencia coeundi may result from various disorders, although cavernosal erectile function is normal. The present study reviews the congenital and acquired penile disorders, as well as the cutaneous disorders that may cause penile morphological changes.

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

BACKGROUND: Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene, most patients with CBAVD have mutations in only one copy of the gene. METHODS: To investigate CBAVD at the molecular level, we have characterized the mutations in the CFTR gene in 102 patients with this condition. None had clinical manifestations of cystic fibrosis. We also analyzed a DNA variant (the 5T allele) in a noncoding region of CFTR that causes reduced levels of the normal CFTR protein. Parents of patients with cystic fibrosis, patients with types of infertility other than CBAVD, and normal subjects were studied as controls. RESULTS: Nineteen of the 102 patients with CBAVD had mutations in both copies of the CFTR gene, and none of them had the 5T allele. Fifty-four patients had a mutation in one copy of CFTR, and 34 of them (63 percent) had the 5T allele in the other CFTR gene. In 29 patients no CFTR mutations were found, but 7 of them (24 percent) had the 5T allele. In contrast, the frequency of this allele in the general population was about 5 percent. CONCLUSIONS: Most patients with CBAVD have mutations in the CFTR gene. The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD: The 5T allele mutation has a wide range of clinical presentations, occurring in patients with CBAVD or moderate forms of cystic fibrosis and in fertile men.

Choosing among different technical variations of Percoll centrifugation for sperm selection.

We compared the efficiency of different methodological variations of the centrifugation through discontinuous Percoll gradients (PC) to improve semen samples in the laboratory. Five different combinations of the number, volume and density of PC layers were assayed in 14 semen samples presenting various qualities. Each specimen was divided into five aliquots and processed simultaneously. The percentage of spermatozoa showing optimal movement (VAP > 30 microns s-1 and STR > 80%) after PC selection when the number of gradients was reduced to three or two (PC-3: 43.3%, PC-2: 41.3%) and when the volume of layers was diminished to 0.5 ml (mPC-3: 44.2%, and mPC-2: 48.1%), was higher than in classical columns with four gradients of 1 ml (PC-4: 26.3%). The absolute recovery of optimal sperm was better with PC-2, mPC-2 and mPC-3. In samples showing low concentration or motility of spermatozoa, mPC-2 was the most effective technique. PC-2 and mPC-2 showed a tendency to eliminate more red blood cells contaminating the samples. Straight line velocity and straightness were similarly improved by all the methods. We conclude that the technique of PC centrifugation with only two gradients is simpler and more effective for sperm selection and in cases of poor samples can be used with low-volume layers.

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.

Mutations in the cystic fibrosis (CF) conductance transmembrane regulator (CFTR) gene have been detected in patients with CF and in males with infertility attributable to congenital bilateral absence of the vas deferens (CBAVD). Thirty individuals with CBAVD and 10 with congenital unilateral absence of the vas deferens (CUAVD) were analyzed by single-strand conformation analysis and denaturing gradient gel electrophoresis for mutations in most of the CFTR gene. All 40 individuals were pancreatic sufficient, but twenty patients had recurrent or sporadic respiratory infections, asthma/asthmatic bronchitis, and/or rhino-sinusitis. Agenesia or displasia of one or both seminal vesicles was detected in 30 men and other urogenital malformations were present in six subjects. Among the 40 samples, we identified 13 different CFTR mutations, two of which were previously unknown. One new mutation in exon 4 was the deletion of glutamic acid at codon 115 (delta E115). A second new mutation was found in exon 17b, viz., an A --> C substitution at position 3311, changing lysine to threonine at codon 1060 (K1060T). CFTR mutations were detected in 22 out of 30 (73.3%) CBAVD patients and in one out of 10 (10%) CUAVD individuals, showing a significantly lower incidence of CFTR mutations in CBAVD/CUAVD patients (P << 0.0001), compared with that found in the CF patient population. Only three CBAVD patients were found with more than one CFTR mutation (delta F508/L206W, delta F508/R74W + D1270N, R117H/712-1G --> T), highlighting L206W, R74W/D1270N, and R117H as benign CF mutations. Sweat electrolyte values were increased in 76.6% of CBAVD patients, but three individuals without CFTR mutations had normal sweat electrolyte levels (10% of the total CBAVD patients), suggesting that factors other than CFTR mutations are involved in CBAVD. The failure to identify a second mutation in exons and their flanking regions of the CFTR gene suggests that these mutations could be located in introns or in the promoter region of CFTR. Such mutations could result in CFTR levels below the minimum 6%-10% necessary for normal protein function.

A new device for microsurgical sperm aspiration.

A new device for microsurgical aspiration of seminal fluid is presented. It is simple to use, flexible, and watertight, allowing maximum retrieval of seminal fluid.

Critical evaluation of the present experience on microsurgical sperm aspiration.

Microsurgical epididymal sperm aspiration (MESA) and IVF techniques are indicated in those cases of bilateral congenital absence of the vas deferens (BCAVD) and in cases of epididymal obstruction (EO) of other aetiologies were vasoepididymostomy is not possible or has failed. Microsurgical deferential sperm aspiration (MDSA) is indicated in those cases where spermatogenesis and epididymal permeability are conserved but spermatozoa, for different causes, cannot reach the ejaculate and other therapies have failed. We have performed this procedure in 70 patients by two different human reproduction teams. Both teams achieved very similar results regarding fertilization rate: 5.5 and 7.2% in cases of BCAVD, 6.5 and 8.8% in cases of EO and 33.3 and 26.7% in cases of non-epididymal pathology (NEP). However, the fertilization rate per patient presents differences between both teams: 27 and 44.4% in BCAVD, 31 and 11% in EO and 80 and 100% in NEP. In spite of a better fertilization rate per patient in team two, it was in the other where pregnancies were achieved (7% in BCAVD, 15% in EO and 20% in NEP). One pregnancy in EO group was achieved by intracytoplasmatic sperm injection. The pregnancy rates per transfer were 25% in BCAVD, 50% in EO and 25% in NEP.

[Human chorionic gonadotropin and carcinoembryonic antigen in small cell carcinoma (oat cell) of the urinary bladder]. / H.C.G. Y C.E.A. en carcinoma de células pequeñas ("oat cells") de vejiga urinaria.

Patient suffering from vesical carcinoma, which is identified as small cells (oat cells) carcinoma. We carried out a histochemical study with H.C.G. and C.E.A. and analyse the results obtained.