Mp13-14 Reproductive Potential in Men With Chromosomal Heteromorphisms

You have accessJournal of UrologyInfertility: Epidemiology & Evaluation I (MP13)1 May 2024MP13-14 REPRODUCTIVE POTENTIAL IN MEN WITH CHROMOSOMAL HETEROMORPHISMS Marcello Machado Gava, Gabriel B. Silva, Denise M. Christofolini, Milton Ghirelli-Filho, Ivan H. Yoshida, Gustavo S. Lima, Sidney Glina, Caio P. Barbosa, and Bianca Bianco Marcello Machado GavaMarcello Machado Gava , Gabriel B. SilvaGabriel B. Silva , Denise M. ChristofoliniDenise M. Christofolini , Milton Ghirelli-FilhoMilton Ghirelli-Filho , Ivan H. YoshidaIvan H. Yoshida , Gustavo S. LimaGustavo S. Lima , Sidney GlinaSidney Glina , Caio P. BarbosaCaio P. Barbosa , and Bianca BiancoBianca Bianco View All Author Informationhttps://doi.org/10.1097/01.JU.0001008832.14212.d6.14AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Chromosomal heteromorphisms are polymorphic variants that can occur in heterochromatin size, satellite size, repetitive sequence regions, and inversions. They are found in 2-5% of the general population and are believed to have no impact on the phenotype of carriers. However, a higher frequency of chromosomal heteromorphisms (12.2-38%) has been found in infertile men and has been associated with spermatogenic failure, suggesting that could be a link between the presence of heteromorphisms and infertility. The objective is analyze the frequency of chromosomal heteromorphisms in men undergoing infertility investigation, as well as to compare the semen analysis results of men with heteromorphisms and men with a normal karyotype. METHODS: An observational retrospective study was conducted comprising men undergoing infertility investigation. All patients from our center, who underwent karyotyping from January 2017 to December 2022 were evaluated. Clinical data were collected from participants' medical records. Seminal analysis parameters were based on the sixth edition of the WHO laboratory manual for the examination and processing of human semen, and it included volume, pH, morphology, sperm concentration and motility, liquefaction and viscosity. They were compared between the studied groups. RESULTS: During the study period, 382 male karyotypes were performed, of which 87.2% were normal, 1.4% had some chromosomal abnormality, and 11.4% presented chromosomal heteromorphisms, with the most common being the increased size of heterochromatin on chromosomes Y (20%), 1 (16%), 16 (12%) and pericentric inversion of chromosome 9 (12%). Forty-seven men with heteromorphisms and fifty controls were included in the study. We found statistically significant differences (p<0.05) in the following variables: age (36.04±5.73 vs. 39.06±7.43); pH (7.80±0.19 vs. 7.67±0.21), rapidly progressive sperm (45.89±21.00 vs. 36.92±18.15), and non-progressive sperm (6.87±9.45 vs. 7.36±5.53). CONCLUSIONS: The group with heteromorphisms is slightly younger than the controls and showed a higher percentage of rapidly progressive sperm and a lower percentage of non-progressive sperm. The frequency of chromosomal heteromorphisms in infertile men was 11.4% and did not negatively impact spermatogenesis. Download PPT Source of Funding: None © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e215 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Marcello Machado Gava More articles by this author Gabriel B. Silva More articles by this author Denise M. Christofolini More articles by this author Milton Ghirelli-Filho More articles by this author Ivan H. Yoshida More articles by this author Gustavo S. Lima More articles by this author Sidney Glina More articles by this author Caio P. Barbosa More articles by this author Bianca Bianco More articles by this author Expand All Advertisement PDF downloadLoading ...