2294 CLINICAL CHARACTERIZATION AND REPRODUCTIVE OUTCOMES IN MEN WITH COMPLETE AZFC DELETIONS: A 17-YEAR EXPERIENCE

Abstract

You have accessJournal of UrologyInfertility: Evaluation1 Apr 20132294 CLINICAL CHARACTERIZATION AND REPRODUCTIVE OUTCOMES IN MEN WITH COMPLETE AZFC DELETIONS: A 17-YEAR EXPERIENCE Akanksha Mehta, Ali Dabaja, Peggy King, Anna Mielnik, Darius Paduch, and Peter Schlegel Akanksha MehtaAkanksha Mehta New York, NY More articles by this author , Ali DabajaAli Dabaja New York, NY More articles by this author , Peggy KingPeggy King New York, NY More articles by this author , Anna MielnikAnna Mielnik New York, NY More articles by this author , Darius PaduchDarius Paduch New York, NY More articles by this author , and Peter SchlegelPeter Schlegel New York, NY More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2013.02.2235AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Deletions of the AZFc region of the Y-chromosome are the most common genetic cause of spermatogenic failure. Unlike complete AZFa and AZFb deletions, paternity is possible in the setting of complete AZFc deletions. This study investigated the clinical characteristics, surgical sperm retrieval rates, and pregnancy outcomes in a large cohort of patients with complete AZFc deletions screened at a specialized academic center. METHODS Medical records of consecutive male infertility patients undergoing Y-chromosome microdeletion (YCMD) testing between 1995 and 2012 were reviewed. Only patients with a complete AZFc deletion were included. All available data on serum hormone levels, sperm concentration, karyotype analysis, testicular size and histology, sperm retrieval rates (SRR), and pregnancy outcomes was collected. Student's t-test and Fisher's exact test were used to compare baseline characteristics with respect to SRR and pregnancy outcomes. A p-value <0.05 was considered statistically significant. RESULTS Of 2780 men screened for YCMD, 118 patients with complete AZFc deletions were identified. Mean age was 34 yrs. Mean concentrations of serum testosterone, FSH, LH, and estradiol were 400 ng/mL, 15.9 mIU/mL, 6.6 mIU/mL, and 32.9 pg/mL, respectively. Bilateral testicular volumes averaged 12.4 mL. Of 100 men for whom semen analysis data was available, 59 were azoospermic, 33 had sperm concentration ¡Ü1 million/ml, and two had concentrations of 5 and 21 million/ml, respectively. The majority (96%) had a normal 46,XY karyotype. The overall SRR, using microsurgical testicular sperm extraction (TESE) for azoospermic men, was 73% (41/56). Clinical pregnancy occurred in 59% (33/56) of treatment cycles. Four spontaneous miscarriages were reported. There was no difference maternal or paternal age, FSH levels, or testicular size between cycles where sperm were and were not retrieved. However, the chance of finding sperm with TESE was affected by the predominant histologic pattern on random testis biopsy (58 vs. 76 vs. 100% for Sertoli-only vs. maturation arrest vs. hypospermatogenesis, p<0.001). CONCLUSIONS While the majority of patients with AZFc deletions have sperm concentrations <1 million/mL, higher concentrations are possible in a small fraction of men. Surgical sperm retrieval using TESE is successful in 73% of patients with AZFc deletion, with pregnancy rates of approximately 50% at our center. As with other patients, focal areas of hypospermatogenesis on testicular histology may predict a higher chance of sperm retrieval in AZFc-deleted men. © 2013 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 189Issue 4SApril 2013Page: e940 Advertisement Copyright & Permissions© 2013 by American Urological Association Education and Research, Inc.MetricsAuthor Information Akanksha Mehta New York, NY More articles by this author Ali Dabaja New York, NY More articles by this author Peggy King New York, NY More articles by this author Anna Mielnik New York, NY More articles by this author Darius Paduch New York, NY More articles by this author Peter Schlegel New York, NY More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...