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J Rollet

Publications and source records attributed to J Rollet.

At least 19 recordsLinked to original sources
PubMed1999

[Agenesis of the vas deferens in male infertility. A tentative classification based on 39 cases].

OBJECTIVES: We attempted to establish a classification of vas deferens agenesia observed in male infertility to better ascertain the pathophysiology involved and help guide genetic counselling. PATIENTS AND METHODS: Among 387 men consulting for infertility, agenesia of the vas deferens was confirmed by transrectal ultrasonography in 39. A search for 13 different cystic fibrosis mutations was performed in subjects without associated renal agenesia. RESULTS: Among the 39 cases, we identified 4 ultrasonographic categories: unique bilateral agenesia (25 cases), bilateral agenesia associated with renal agenesia (1 case), unique unilateral agenesia (6 cases) and unilateral agenesia with renal agenesia (7 cases). Presence or absence of a seminal vesicle was variable. A cystic fibrosis mutation was observed in 64% of the bilateral cases and in none of the unilateral cases. The delta F 508 mutation accounted for 62% of the mutations. Phenotypically, there was not distinction between patients with and without a mutation. In cases of unilateral agenesia of the vas deferens, azoospermia was more frequent in unique forms than in forms with associated renal agenesia. CONCLUSION: Presence or absence of a mutation does not affect the pathophysiology of vas deferens agenesia in cases without associated renal agenesia. Genetic counselling should however take into account the presence of an associated mutation. Vas deferens agenesia associated with renal agenesia is not associated with cystic fibrosis mutations and results from a different pathogenic mechanism.

Adult↗
PubMed1999

Seminal transforming growth factor-beta in normal and infertile men.

Transforming growth factor-beta (TGFbeta) is a cytokine with autocrine and paracrine action in the testis and potent immunoregulatory and anti-inflammatory activities. In the present study, we examined the concentration of latent (acid-activatable) and free (active) TGFbeta in seminal plasma from normal subjects (n = 23) and infertile (n = 40) patients, by using a TGFbeta specific immunoenzymological assay, and a bioassay (CCL64 cell line growth inhibition) detecting any form of TGFbeta. Free TGFbeta1 was present in normal subjects at a concentration (1.82 +/- 1.06 ng/ml) close to that known to give maximal stimulation in vitro. In pathological groups, the mean concentrations were not significantly different from the normal ones. Latent TGFbeta1 was present in normal seminal plasma at a high concentration (92.4 +/- 29.2 ng/ml). In subjects with pathologies of both testis and genital apparatus, or with epididymal occlusion, mean latent TGFbeta1 concentrations were normal, whereas transferrin concentrations were lower. The concentrations found in the epididymal occlusion group indicate that TGFbeta1 is, for a large part, secreted by the genital tract. In the testicular pathology group, TGFbeta1 concentrations were 130.7 +/- 61.2 ng/ml, a mean not statistically different from normal, although higher. No differences were found between patients with high and normal blood plasma follicle stimulating hormone, and this is consistent with the notion that most TGFbeta1 in seminal plasma is not of testicular origin. The TGFbeta bioassay ensured that immunologically detected TGFbeta was present in a bioactive or bioactivatable form. Furthermore, the values found in normal and pathological seminal plasmas were usually higher than those detected by the immunoassay, suggesting that other forms of TGFbeta might be present. Together, the present data show that very large amounts of TGFbeta are present in human seminal plasma. The TGFbeta ligand assay in the seminal plasma appears to indicate no differences between normal and infertile subjects.

Animals↗
PubMed1997

[Male infertility caused by bilateral agenesis of the vas deferens: a new clinical form of cystic fibrosis?].

Congenital bilateral absence of vas deferens causes male excretory infertility and represents 1 to 2% of male infertility. Because of a genotypic similarity with cystic fibrosis, the possible in vitro fertilization with epididymal sperm requires careful genetic counselling. We studied genotype, sweat chloride concentration, respiratory function tests, sinus abnormalities, pancreatic and hepatic functions in 22 subjects with congenital bilateral absence of vas deferens. Among them, four were compound heterozygotus, all of them with the R117H mutation. Ten had a positive sweat test, one of them also being compound heterozygotus. Congenital bilateral absence of vas deferens and double mutation or positive sweat test led to high probable cystic fibrosis diagnosis in 13 subjects. Six subjects were heterozygotus for one cystic fibrosis mutation, criterium which is not sufficient for cystic fibrosis diagnosis; five of them had sinus abnormalities, present in 11 of the 22 subjects. Only three patients had no mutation nor sweat chloride abnormalities. This work confirms the high frequency of cystic fibrosis mutations in males with congenital bilateral absence of vas deferens, with a higher frequency of positive sweat test than in other publications, and a high frequency of sinus abnormalities. This monosymptomatic phenotype of cystic fibrosis suggests new hypotheses for a relationship between genotype and phenotype.

Adult↗
PubMed1995

Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens.

The high frequency of cystic fibrosis (CF) mutations in males with absence of vas deferens supported the hypothesis of a primarily genital phenotype of CF disease. To consider the idea of an attenuated form of CF, we investigated 14 men with congenital bilateral aplasia of the vasa deferentia. All patients were consulting for infertility and none was known to have CF. The median age was 30.5 years (range, 20-38 yr). DNA analysis for 22 CF mutations showed at least 1 mutation in 10 patients (71%), whereas the CF carrier frequency is only 4% in the general population. Three compound heterozygotes were identified, all carriers of the R117H mutation. The sweat test was considered positive in 6 patients (43%), and a high frequency of radiologic evidence of sinus disease (8 patients) and of elevated antibodies to Pseudomonas (8 patients) was found. Only 2 patients were free of all these criteria for CF disease. This study strengthens the hypothesis that absence of vas deferens is an attenuated form of CF. We propose a combination of tests including DNA study, computerized tomographic scan of the paranasal sinuses, and testing of anti-Pseudomonas antibodies when the sweat test is inconclusive.

Adult↗
PubMed1995

Detection of t(X;Y) in 2 XX males using fluorescent in situ hybridization.

Males with a 46,XX karyotype generally have Y chromosomal material translocated to the pseudoautosomal region of the X chromosome. We have delineated two such cases using two color fluorescent in situ hybridization with probes from the short arm (DYZ2), centromere (DYZ3), and long arm (DYZ1) of the Y chromosome and a centromeric probes for the X chromosome (DXZ1). Using these techniques, the two patients are identified as having the karyotype 46,X,der(X)t(X;Y) (p22;p11) and a phenotype consistant with this translocation. Azoospermia in these patients is explained by the absence of Y long arm material including the recently identified candidate gene family for spermatogenesis.

Adult↗
PubMed1993

[Is male infertility caused by congenital bilateral atrophy of the vas deferens a clinical form of mucoviscidosis?].

We investigated clinical data, sweat electrolytes and cystic fibrosis (CF) mutations in twelve patients with congenital bilateral aplasia of vasa deferentia (CBAVD) to debate arguments for diagnosing CF. Sweat chloride concentration was definitely raised in four patients. Three patients are CF compound heterozygotes. Six patients are CF heterozygotes. This result reinforces the hypothesis that white males with CBAVD might have a mild form of CE.

Atrophy↗
PubMed1989

HLA antigens and infertility with sperm autoantibodies in man.

Vasectomized men with sperm auto-antibodies (S.A.A.) and high frequency of HLA-A20 antigen (Ag) were observed by Law et al. (1979); Hancock et al. (1983) observed the prevalence of HLA-A28 in infertile men with S.A.A. HLA-A, B and DR Ag were determined in a population of 80 Caucasian infertile men with (n = 22) or without (n = 58) agglutinating and/or cytotoxic S.A.A. in serum (S) and/or seminal plasma (SP), and the association between HLA-determinants and infertility with S.A.A. was investigated. The frequence of HLA-A28 Ag was found higher in the group with S.A.A. than without (18.2% vs 0.0%) but not statistically significant (chi 2 = 8.87; pc less than 0.15). The same result was obtained with HLA-B13 Ag (chi 2 = 8.87; pc less than 0.32). Lastly, there was no prevalence of HLA-DR Ag in men with S.A.A. In conclusion, no association was found between HLA-A, B and DR Ag and infertility with S.A.A. Nevertheless, two HLA-Ag were more frequently observed in the group with S.A.A.

Adult↗
PubMed1989

[Etiologic evaluation of oligo-astheno-teratospermia].

The numerous etiological factors of male hypofertilities and the lack of precision relating to physiopathological mechanisms explain the weak therapeutic armamentarium. It is therefore absolutely necessary to perform a clinical, biological and paraclinical evaluation, logical and standardized, in order to determine etiology which can be cured and attempt a prognosis. The interview, the clinical examination and the sperm count represent the basis from which additional explorations (hormonal assays, biochemistry of the semen, immunological work-up, caryotype, paraclinical examinations) may be requested and provide more specific data.

Antibodies↗
PubMed1988

Inhibition of spermatogenesis in men using various combinations of oral progestagens and percutaneous or oral androgens.

Eight men (experiment 1) requesting male contraception received a daily oral dose of 20 mg medroxyprogesterone acetate (MPA) combined with 125 mg percutaneous dihydrotestosterone (DHT). Three months later the mean sperm count was only diminished slightly; the replacement of DHT for four men by percutaneous testosterone at the same concentration led to a dramatic fall in sperm count. For 6-18 months all men were treated with MPA plus percutaneous testosterone (250 mg daily). The latter dose restored physiological levels of plasma testosterone. Follicle-stimulating hormone levels were inhibited more severely than in the DHT-treated group, whereas LH levels were variable. Azoospermia was achieved and maintained in six cases; two men were oligozoospermic and in one case a moderate secondary rise in the sperm count was observed. Twelve volunteers (experiment 2) received a daily oral dose of either 5 or 10 mg norethisterone acetate plus percutaneous testosterone (250 mg daily). All of them achieved azoospermia within 2 months, but two subjects later exhibited a partial restoration in sperm count. Follicle-stimulating hormone and LH levels were inhibited more severely than in the first experiment. The sperm count and gonadotrophin levels returned to initial values within 6 months after cessation of the treatment in both experiments. No side-effects were noted concerning blood parameters, libido or body weight. However, several female partners had elevated levels of plasma testosterone. In experiment 3 (13 volunteers), percutaneous testosterone was replaced by oral testosterone undecanoate (160 mg daily). Only seven men were azoospermic and most of them had lowered levels of plasma testosterone. Thus, the combination of percutaneous testosterone and oral progestagens appears to be the most convenient for male hormonal contraception.

Administration, Cutaneous↗
PubMed1987

[Silastic spermatocele].

The study was carried out in two stages. An initial experimental study in the rat showed that it was possible to attach a spermatocele to the rat epididymus and to collect spermatozoa during the months that followed. The clinical trial involved the implantation of 8 spermatoceles in 5 male patients. The technic is simple, as predicted by the animal study but, as previously described by numerous other authors, the communication between epididymus and spermatocele is obliterated within several months. These findings confirm the possibility of use of a spermatocele that is well tolerated and of simple functioning, but which does not allow fertile spermatozoa capable of producing pregnancy to be obtained.

Adult↗
PubMed1982

[Deferentography under local anaesthesia in male sterility : technique and results (author's transl)].

Deferentography was employed during medical and surgical investigations of 44 cases of male sterility. This technique is easily performed in out patients and appears to be inocuous. Radiological signs were normal in 31 cases, and it was possible to evaluate anatomical characteristics and to obtain precise measurements of the vasa deferentia, the ampulla, the seminal vesicles, and the ejaculatory canals. Abnormal findings, present in 13 cases, corresponded to bilateral deferens obstruction of either congenital (agenesis), or acquired (stenosis due to infection or inflammation) origin. The major limitation of this investigational method is that epididymal obstruction cannot be demonstrated.

Anesthesia, Local↗
PubMed1981

Enzymes in the seminal plasma from azoospermic men: correlation with the origin of their azoospermia.

Semi-quantitative estimations of the activities of 65 enzymes were studied for cases of azoospermia in an attempt to correlate the seminal enzyme profile with the origin of the azoospermia. One single enzyme--alpha-glucosidase--showed variation. All other specificities tested gave identical results for all the azoospermic samples and for normal controls. The alpha-glucosidase activity that is present in normal semen was absent from samples from patients with azoospermia associated with a complete obstruction of the genital tract, and also from all semen samples from vasectomized subjects. This enzyme appears to be secreted by the epididymis, and the activity present in azoospermic semen can provide information concerning the origin of the azoospermia and the functional state of the epididymis. Positive but reduced alpha-glucosidase activity appears to be frequently associated with inflammatory disease. The consequences of these findings are discussed.

Follicle Stimulating Hormone↗
PubMed1981

[Congenital or acquired obstructions of the human epididymis: study of the motility of the spermatozoa above the obstruction].

Azoospermia is frequently due to an obstruction of genital pathways. In this work, concerning 22 patients submitted to surgical investigation for sterility, we made a systematic histological investigation of the lesions, and we studied the motility of epididymal spermatozoa. We observed with an unexpected frequency abnormalities of junctions either between seminiferous tubules and efferents ducts - leading to disappearance of rete testis - or between efferent ducts and epididymis. In each case a fibrosis of the epididymis was discovered, the consequence was either an interruption or, more frequently a simple narrowing of the lumen of the epididymal duct. The presence of spermiophages which destroyed all spermatozoa, was also systematically observed. The origin of the lesions (congenital, inflammatory, ischemic... ) could not be determined by simple histological study. Motility of spermatozoa was generally observed in the initial portion of the epididymal duct, but motile spermatozoa were sometimes still observed in the efferent tubules. Motility could be initiated by caffeine while other compounds as albumin, seminal plasma and different organic substrates, had no effects.

Epididymis↗
PubMed1980

The Doppler stethoscope in the diagnosis of subclinical varicocele.

Fifty-six patients (112 testicular cords) were examined using the Doppler stethoscope. Venous reflux was detected in all patients with a clinically obvious varicocele and in 77% of patients where a varicocele was suspected but not clinically demonstrated. The incidence of bilateral varicoceles was 21%. The Doppler stethoscope showed that 20% of patients continued to have venous reflux post-operatively. It is concluded that the Doppler stethoscope is a useful instrument in the diagnosis of clinical varicoceles and in the assessment of post-operative results.

Auscultation↗