Tags

Type your tag names separated by a space and hit enter

[Correlation of genitourinary abnormalities, spermiogram and CFTR genotype in patients with bilateral agenesis of the vas deferens].
Prog Urol. 1998 Jun; 8(3):370-6.PU

Abstract

OBJECTIVES

To evaluate the frequency of urogenital ultrasound and spermatic abnormalities in patients with bilateral vas deferens agenesis according to the presence or absence of CFTR gene mutation.

METHODS

In 41 patients with bilateral vas deferens agenesis confirmed by surgical exploration between 1988 and 1997, renal and seminal vesicle anomalies were investigated by ultrasonography. Spermatic parameters (pH, fructose and ejaculate volume) were also studied, together with sweat chloride assay and PCR of mutations on exons 3, 4, 7, 9, 10, 11, 13, 14b, 17b, 19, 20 and 21 of the CFTR gene.

RESULTS

None of the 8 patients with a renal anomaly presented a CFTR gene mutation, versus 23 out of 33 patients without a renal anomaly (p < 0.02). Seminal vesical anomalies were not more frequent in patients with or without mutations (11/20 versus 13/19, p = NS), except for composite heterozygous patients (with 2 mutations: 8/13 versus 4/11, p = NS). Spermatic parameters (pH < 7.2, fructose < 1 g/l and volume < 2 ml) could not distinguish between patients with or without renal or seminal vesical anomalies or mutation, except for patients with pH < 7.2, who presented fewer renal anomalies (2/25 versus 6/16, p < 0.05) and a higher incidence of gene mutation (19/25 versus 5/12, p < 0.01).

CONCLUSION

Renal agenesis is considered to be pathognomonic of a developmental anomaly. Unlike a seminal vesical anomaly, a semen volume < 2 ml or fructose < 1 g/l, pH less than 7.2 is a nonspecific parameter, but more frequently present in patients with CFTR mutation.

Authors+Show Affiliations

Service d'Urologie, CHRU Lille, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
English Abstract
Journal Article

Language

fre

PubMed ID

9689669

Citation

de la Taille, A, et al. "[Correlation of Genitourinary Abnormalities, Spermiogram and CFTR Genotype in Patients With Bilateral Agenesis of the Vas Deferens]." Progres En Urologie : Journal De l'Association Francaise D'urologie Et De La Societe Francaise D'urologie, vol. 8, no. 3, 1998, pp. 370-6.
de la Taille A, Rigot JM, Mahe P, et al. [Correlation of genitourinary abnormalities, spermiogram and CFTR genotype in patients with bilateral agenesis of the vas deferens]. Prog Urol. 1998;8(3):370-6.
de la Taille, A., Rigot, J. M., Mahe, P., Gervais, R., Dumur, V., Lemaitre, L., & Mazeman, E. (1998). [Correlation of genitourinary abnormalities, spermiogram and CFTR genotype in patients with bilateral agenesis of the vas deferens]. Progres En Urologie : Journal De l'Association Francaise D'urologie Et De La Societe Francaise D'urologie, 8(3), 370-6.
de la Taille A, et al. [Correlation of Genitourinary Abnormalities, Spermiogram and CFTR Genotype in Patients With Bilateral Agenesis of the Vas Deferens]. Prog Urol. 1998;8(3):370-6. PubMed PMID: 9689669.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Correlation of genitourinary abnormalities, spermiogram and CFTR genotype in patients with bilateral agenesis of the vas deferens]. AU - de la Taille,A, AU - Rigot,J M, AU - Mahe,P, AU - Gervais,R, AU - Dumur,V, AU - Lemaitre,L, AU - Mazeman,E, PY - 1998/8/5/pubmed PY - 1998/8/5/medline PY - 1998/8/5/entrez SP - 370 EP - 6 JF - Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie JO - Prog Urol VL - 8 IS - 3 N2 - OBJECTIVES: To evaluate the frequency of urogenital ultrasound and spermatic abnormalities in patients with bilateral vas deferens agenesis according to the presence or absence of CFTR gene mutation. METHODS: In 41 patients with bilateral vas deferens agenesis confirmed by surgical exploration between 1988 and 1997, renal and seminal vesicle anomalies were investigated by ultrasonography. Spermatic parameters (pH, fructose and ejaculate volume) were also studied, together with sweat chloride assay and PCR of mutations on exons 3, 4, 7, 9, 10, 11, 13, 14b, 17b, 19, 20 and 21 of the CFTR gene. RESULTS: None of the 8 patients with a renal anomaly presented a CFTR gene mutation, versus 23 out of 33 patients without a renal anomaly (p < 0.02). Seminal vesical anomalies were not more frequent in patients with or without mutations (11/20 versus 13/19, p = NS), except for composite heterozygous patients (with 2 mutations: 8/13 versus 4/11, p = NS). Spermatic parameters (pH < 7.2, fructose < 1 g/l and volume < 2 ml) could not distinguish between patients with or without renal or seminal vesical anomalies or mutation, except for patients with pH < 7.2, who presented fewer renal anomalies (2/25 versus 6/16, p < 0.05) and a higher incidence of gene mutation (19/25 versus 5/12, p < 0.01). CONCLUSION: Renal agenesis is considered to be pathognomonic of a developmental anomaly. Unlike a seminal vesical anomaly, a semen volume < 2 ml or fructose < 1 g/l, pH less than 7.2 is a nonspecific parameter, but more frequently present in patients with CFTR mutation. SN - 1166-7087 UR - https://www.unboundmedicine.com/medline/citation/9689669/[Correlation_of_genitourinary_abnormalities_spermiogram_and_CFTR_genotype_in_patients_with_bilateral_agenesis_of_the_vas_deferens]_ L2 - https://medlineplus.gov/cysticfibrosis.html DB - PRIME DP - Unbound Medicine ER -