Development of a multivariable prediction model for congenital unilateral absence of the vas deferens in male partners of infertile couples.


Journal

Andrology
ISSN: 2047-2927
Titre abrégé: Andrology
Pays: England
ID NLM: 101585129

Informations de publication

Date de publication:
02 2022
Historique:
revised: 01 09 2021
received: 04 04 2021
accepted: 07 09 2021
pubmed: 13 9 2021
medline: 9 3 2022
entrez: 12 9 2021
Statut: ppublish

Résumé

Congenital unilateral absence of vas deferens has been diagnosed in fertile and normozoospermic males and is associated with the risk of unilateral renal absence or cystic fibrosis transmembrane conductance regulator mutations; but no prediction model currently exists to diagnose this condition. The study aims to identify clinical and biological variables that may have a predictive value for the diagnosis of congenital unilateral absence of vas deferens in male partners of infertile couples MATERIALS AND METHODS: We designed a retrospective, cross-sectional, case-control study on electronic health records of a single tertiary-care andrological centre collected between 1998 and 2018. We included all subjects diagnosed with congenital unilateral absence of vas deferens using combined scrotal and transrectal ultrasounds. Controls were confirmed free of congenital unilateral absence of vas deferens by the same way. Both groups received standardised exploration procedures. Multivariable logistic regression model was built in a backward stepwise manner. Model performance and calibration were assessed. The study is reported according to TRIPOD statement. We included 69 congenital unilateral absence of vas deferens cases and 78 controls. Cases had a lower semen volume than controls. The congenital unilateral absence of vas deferens risk was associated with history of cryptorchidism and both levels of semen fructose and α-glucosidase. These predictors were confirmed by a random forest algorithm. The area under the curve was 0.886 (95% interval: 0.81-0.92). Calibration was performed with the Hosmer-Lemeshow test (p = 0.88). History of cryptorchidism, semen fructose and α-glucosidase were identified as relevant and independent predictors for the diagnosis of congenital unilateral absence of vas deferens. The model enables to identify male patients with a high risk of congenital unilateral absence of vas deferens to whom a transrectal ultrasounds would be proposed to confirm the diagnosis, whatever their semen parameters. It will also help to address the risks of unilateral renal absence and of cystic fibrosis transmembrane conductance regulator mutations carrying during the management of infertile couples.

Sections du résumé

BACKGROUND
Congenital unilateral absence of vas deferens has been diagnosed in fertile and normozoospermic males and is associated with the risk of unilateral renal absence or cystic fibrosis transmembrane conductance regulator mutations; but no prediction model currently exists to diagnose this condition.
OBJECTIVES
The study aims to identify clinical and biological variables that may have a predictive value for the diagnosis of congenital unilateral absence of vas deferens in male partners of infertile couples MATERIALS AND METHODS: We designed a retrospective, cross-sectional, case-control study on electronic health records of a single tertiary-care andrological centre collected between 1998 and 2018. We included all subjects diagnosed with congenital unilateral absence of vas deferens using combined scrotal and transrectal ultrasounds. Controls were confirmed free of congenital unilateral absence of vas deferens by the same way. Both groups received standardised exploration procedures. Multivariable logistic regression model was built in a backward stepwise manner. Model performance and calibration were assessed. The study is reported according to TRIPOD statement.
RESULTS
We included 69 congenital unilateral absence of vas deferens cases and 78 controls. Cases had a lower semen volume than controls. The congenital unilateral absence of vas deferens risk was associated with history of cryptorchidism and both levels of semen fructose and α-glucosidase. These predictors were confirmed by a random forest algorithm. The area under the curve was 0.886 (95% interval: 0.81-0.92). Calibration was performed with the Hosmer-Lemeshow test (p = 0.88).
DISCUSSION AND CONCLUSION
History of cryptorchidism, semen fructose and α-glucosidase were identified as relevant and independent predictors for the diagnosis of congenital unilateral absence of vas deferens. The model enables to identify male patients with a high risk of congenital unilateral absence of vas deferens to whom a transrectal ultrasounds would be proposed to confirm the diagnosis, whatever their semen parameters. It will also help to address the risks of unilateral renal absence and of cystic fibrosis transmembrane conductance regulator mutations carrying during the management of infertile couples.

Identifiants

pubmed: 34510807
doi: 10.1111/andr.13106
doi:

Substances chimiques

CFTR protein, human 0
Cystic Fibrosis Transmembrane Conductance Regulator 126880-72-6

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

262-269

Subventions

Organisme : Agence de la Biomédecine
ID : 18AMP010

Informations de copyright

© 2021 American Society of Andrology and European Academy of Andrology.

Références

Charny CW, Gillenwater JY. Congenital absence of the vas deferens. J Urol. 1965;93:399-401.
Schlegel PN, Shin D, Goldstein M. Urogenital anomalies in men with congenital absence of the vas deferens. J Urol. 1996;155:1644-1648.
Cornud F, Belin X, Delafontaine D, Amar T, Hélénon O, Moreau JF. Imaging of obstructive azoospermia. Eur Radiol. 1997;7:1079-1085.
Mieusset R, Bieth E, Daudin M, et al. Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non-azoospermic. Andrology. 2020;8:645-653.
Miller S, Couture S, James G, Plourde S, Rioux J, Labrecque M. Unilateral absence of vas deferens: prevalence among 23.013 men seeking vasectomy. Int Braz J Urol. 2016;42:1010-1017.
Bieth E, Hamdi SM, Mieusset R. Genetics of the congenital absence of the vas deferens. Hum Genet. 2020;140:59-76.
Mickle J, Milunsky A, Amos JA, Oates RD. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod. 1995;10:1728-1735.
Casals T, Bassas L, Egozcue S, et al. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod. 2000;15:1476-1483.
Bouwmeester W, Zuithoff NPA, Mallett S, et al. Reporting and methods in clinical prediction research: a systematic review. PLoS Med. 2012;9:1-12.
Collins GS, Reitsma JB, Altman DG, Moons KGM. Transparent reporting of a multivariable prediction model for individual prognosis or diagnosis (TRIPOD): the TRIPOD statement. J Clin Epidemiol. 2015;68:134-143.
Cissen M, Meijerink AM, D'Hauwers KW, et al. Prediction model for obtaining spermatozoa with testicular sperm extraction in men with non-obstructive azoospermia. Hum Reprod. 2016;31:1934-1941.
Meijerink AM, Cissen M, Mochtar MH, et al. Prediction model for live birth in ICSI using testicular extracted sperm. Hum Reprod. 2016;31:1942-1951.
Ma Y, Li F, Wang L, et al. A risk prediction model of sperm retrieval failure with fine needle aspiration in males with non-obstructive azoospermia. Hum Reprod. 2019;34:200-208.
Zeadna A, Khateeb N, Rokach L, et al. Prediction of sperm extraction in non-obstructive azoospermia patients: a machine-learning perspective. Hum Reprod. 2020;35:1505-1514.
World Health Organization. WHO Laboratory Manual for the Examination and Processing of Human Semen. 5th ed. World Health Organization; 2010.
Kleinbaum D, Klein M. Logistic Regression: A Self-Learning Text. Springer-Verlag; 2010:345-387.
Daudin M, Bieth E, Bujan L, Massat G, Pontonnier F, Mieusset R. Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counselling. Fertil Steril. 2000;74:1164-1174.
Mieusset R, Fauquet I, Chauveau D, et al. The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling. J Nephrol. 2017;30:211-218.
Laurichesse Delmas H, Kohler M, Doray B, et al. Congenital unilateral renal agenesis: prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. Birth Defects Res. 2017;109:1204-1211.
Leushuis E, van der Steeg JW, Steures P, et al. Prediction models in reproductive medicine: a critical appraisal. Hum Reprod Update. 2009;15:537-552.
Goldstein BA, Navar AM, Pencina MJ, Ioannidis JPA. Opportunities and challenges in developing risk prediction models with electronic health records data: a systematic review. J Am Med Inform. 2017;24:198-208.

Auteurs

Clara Brusq (C)

DEFE, Univ Toulouse, Université Toulouse III, Paul Sabatier, INSERM, Toulouse, France.

Roger Mieusset (R)

DEFE, Univ Toulouse, Université Toulouse III, Paul Sabatier, INSERM, Toulouse, France.
Andrologie, Médecine de la Reproduction, CHU Toulouse, Toulouse, France.

Safouane M Hamdi (SM)

DEFE, Univ Toulouse, Université Toulouse III, Paul Sabatier, INSERM, Toulouse, France.
Laboratoire de Biochimie et d'Hormonologie, CHU Toulouse, Toulouse, France.

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