title: When to Perform Karyotype Analysis in Infertile Men? Validation of the European Association of Urology Guidelines with the Proposal of a New Predictive Model.
abstract: Known genetic alterations play a major role in perturbing male reproductive health. We sought to retrospectively validate the European Association of Urology (EAU) guidelines for karyotype analysis (KA) in a homogenous cohort of 1168 White European men presenting for primary couple's infertility (noninterracial infertile couples only) and to develop a novel nomogram capable of predicting karyotype alterations. Overall, 742 (63.5%) patients would have deserved KA according to the EAU guidelines. Of those, 48 (6.9% of the assessable patients according to EAU guidelines) displayed any kind of alteration at KA. Conversely, hypothetically relying on the EAU criteria, 12 (20%) out of 60 patients with karyotype abnormalities would not have been candidates for the same genetic assessment. Overall, 694 (62.6%) patients would have been candidates for genetic workup despite having a normal karyotype. As a whole, the EAU guideline sensitivity, specificity, and discrimination were 80%, 37%, and 59%, respectively. We developed a novel nomogram, with a 2% probability cut-off, which allows for a more careful detection of KA alterations.
  
  
  
  The application of the European Association of Urology guidelines for karyotype analysis does not ensure an adequate diagnostic process. In this regard, we propose a novel diagnostic tool to improve detection of alterations at karyotype analysis.
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Ventimiglia
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Capogrosso
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy; San Paolo Hospital, University of Milano, Milan, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Boeri
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Pederzoli
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy.
authors.forename: Walter
authors.initials: W
authors.lastname: Cazzaniga
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Scano
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Ippolito
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Fossati
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Alfano
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Montorsi
authors.affiliation: Division of Experimental Oncology/Unit of Urology, Urological Research Institute, L'Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy. Electronic address: salonia.andrea@hsr.it.
authors.forename: Andrea
authors.initials: A
authors.lastname: Salonia
mesh_terms: D000328:Adult; D005060:Europe; D006801:Humans; D007248:Infertility, Male / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D007621:Karyotyping / Q000706:statistics & numerical data*; D016015:Logistic Models; D008297:Male; D017410:Practice Guidelines as Topic; D012189:Retrospective Studies; D018570:Risk Assessment; D025064:Sex Chromosome Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D012955:Societies, Medical; D013076:Sperm Count; D014572:Urology; D044465:White People
keywords: Genetic; Guidelines; Karyotype; Male infertility; Validation