Pd37-06 Karyotype Alterations and Y Chromosome Microdeletion Prevalence Among Patients With Nonobstructive Azoospermia—findings From a Large Multi-Center Cross-Sectional Study

You have accessJournal of UrologyInfertility: Epidemiology & Evaluation II (PD37)1 May 2024PD37-06 KARYOTYPE ALTERATIONS AND Y CHROMOSOME MICRODELETION PREVALENCE AMONG PATIENTS WITH NONOBSTRUCTIVE AZOOSPERMIA—FINDINGS FROM A LARGE MULTI-CENTER CROSS-SECTIONAL STUDY Edoardo Pozzi, Greeshma Venigalla, Vishal Ila, Adele Raymo, Federico Belladelli, Alessandro Bertini, Christian Corsini, Fausto Negri, Alessia d'Arma, Francesco Montorsi, Ranjith Ramasamy, and Andrea Salonia Edoardo PozziEdoardo Pozzi , Greeshma VenigallaGreeshma Venigalla , Vishal IlaVishal Ila , Adele RaymoAdele Raymo , Federico BelladelliFederico Belladelli , Alessandro BertiniAlessandro Bertini , Christian CorsiniChristian Corsini , Fausto NegriFausto Negri , Alessia d'ArmaAlessia d'Arma , Francesco MontorsiFrancesco Montorsi , Ranjith RamasamyRanjith Ramasamy , and Andrea SaloniaAndrea Salonia View All Author Informationhttps://doi.org/10.1097/01.JU.0001009464.98066.03.06AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Current guidelines advise karyotype and Y chromosome microdeletion (YCM) investigations for men with nonobstructive azoospermia (NOA). Given the infrequent prevalence of these genetic defects, we sought to investigate prevalence and associated clinical features in a large cohort of men with NOA from two large tertiary referral centers in Italy and the USA. METHODS: Complete data from 1020 men with NOA (clinical diagnosis of azoospermia with small testes and high FSH) seeking medical help for primary infertility at two multinational tertiary referral centers (Miami, Milan) were analyzed. Baseline serum hormones were evaluated for every patient. NOA was confirmed by ≥2 consecutive semen analyses in all men. Karyotype and YCM tests were evaluated consecutively. Testicular volume (TV) was recorded for every patient. Descriptive statistics were used to detail sociodemographic and clinical characteristics of the cohort and to explore rates of karyotype and of YCM abnormalities in the two different centers and across men with karyotype and YCM alterations. RESULTS: Median (IQR) age was 38 (32-40). Median (IQR) total testosterone (tT), FSH and LH were 358 (253-490.00) ng/dL, 14.3 (6.07-24.45) mIU/mL and 6.15 (3.9-9.7) mIU/mL, respectively. Klinefelter syndrome (KS) and YCMs were detected in 52 (5.1%) and 57 (5.6%) men, respectively. Moreover, inversion of chromosome 9 (p11q13) in a 46, XY karyotype was detected in 13 (1.2%) patients. Autosomal chromosomal translocations were found in 7 (0.68%) men. No significant difference in terms of prevalence across the two centers was observed for KS rates (6.2% vs. 4.4%), YCMs (6.2% vs. 5.2%), inversion of chromosome 9 (0.76% vs. 0.77%) and autosomal chromosome translocations (0.94% vs. 0.58%). While KS patients had higher FSH (32.6 vs. 13.5 mIU/mL), LH (19.1 vs. 6 mIU/mL) and BMI (26.8 vs. 25.5 kg/m2) but lower tT (279 vs. 364 ng/dL) and mean TV (4 vs. 10 cc), patients with YCMs did not differ in terms of tT, FSH, LH, mean TV and BMI as compared with the rest of NOA men. CONCLUSIONS: Findings from this large bicentric study cohort of NOA men revealed consistent prevalence rates for KS at 5.1% and YCMs at 5.6% across both EU and US centers, respectively. Their prevalence was similar across the two centers involved. KS patients demonstrated higher FSH, LH, and BMI, but lower tT levels and mean TV compared to other NOA men. However, patients with YCMs did not exhibit any significant difference in those parameters compared to the other men with NOA. Source of Funding: Supported by NIDDK grants R01 DK130991, UE5 DK137308, and Clinician Scientist Development Grant from American Cancer Society to Ranjith Ramasamy © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e801 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Edoardo Pozzi More articles by this author Greeshma Venigalla More articles by this author Vishal Ila More articles by this author Adele Raymo More articles by this author Federico Belladelli More articles by this author Alessandro Bertini More articles by this author Christian Corsini More articles by this author Fausto Negri More articles by this author Alessia d'Arma More articles by this author Francesco Montorsi More articles by this author Ranjith Ramasamy More articles by this author Andrea Salonia More articles by this author Expand All Advertisement PDF downloadLoading ...