Mp42-15 Successful Sperm Retrieval in a Male With Azoospermia, Partial Azfa Deletion, and CFTR Mutation

You have accessJournal of UrologyInfertility: Therapy (MP42)1 May 2024MP42-15 SUCCESSFUL SPERM RETRIEVAL IN A MALE WITH AZOOSPERMIA, PARTIAL AZFA DELETION, AND CFTR MUTATION Nikos Crist, Christian Karcher, Thairo Pereira, and Helen L. Bernie Nikos CristNikos Crist , Christian KarcherChristian Karcher , Thairo PereiraThairo Pereira , and Helen L. BernieHelen L. Bernie View All Author Informationhttps://doi.org/10.1097/01.JU.0001008688.39367.31.15AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Infertility secondary to azoospermia is typically broken down into two general categories: non-obstructive and obstructive. Y-chromosome microdeletions of the AZF loci are the most common genetic cause of non-obstructive azoospermia in young men. Congenital unilateral absence of the vas deferens (CUAVD) is a rare cause of obstructive azoospermia often closely associated with CFTR mutations. Herein we report a unique case of successful sperm retrieval with subsequent pregnancy and childbirth in a patient with both a partial AZFa deletion and CFTR mutation with CUAVD after microTESE and fresh in-vitro fertilization (IVF) with intracytoplasmic sperm injection (ISCI). METHODS: We start by reporting the case of a 29-year-old otherwise healthy male who presented to our clinic reporting a 1.5-year history of failure to conceive. Labs revealed low total testosterone (tT) with normal FSH and LH. Semen analysis revealed complete azoospermia. Scrotal ultrasound revealed left CUAVD. Genetic testing revealed a 5T/11G CFTR mutation and sY84 AZFa partial deletion of the USPY9 gene region. Clomiphene was initiated to normalize tT and optimize spermatogenesis. As part of our analysis, we conducted a literature review and identified six additional articles reporting fertility outcomes in a total of 10 patients with AZFa partial deletions limited to the USP9Y gene region. RESULTS: Following counseling, the patient elected to undergo microTESE. During the procedure, the majority of the seminiferous and epididymal tubules appeared sclerotic, however samples obtained from microTESE revealed 2-3sperm/hpf slide. This extracted sperm was used to initiate fresh IVF with ISCI leading to successful birth of a healthy child. 4/10 patients with partial AZFa USPY9 deletions identified through our literature review were also able to conceive despite the mutation. CONCLUSIONS: Urologists should consider microTESE with fresh IVF and ISCI to facilitate conception in patients with non-obstructive azoospermia caused by partial AZFa deletions limited to the USP9Y gene region. Rare cases in which patients present with both AZFa partial deletions and 5T CFTR mutations should still be considered for microTESE, as the presence of these mutations in tandem does not preclude the possibility of successful sperm extraction and conception via fresh IVF. To our knowledge, this is the first case to document successful conception via microTESE assisted fresh IVF with ICSI in a patient with both a phenotypically significant CFTR mutation and partial AZFa microdeletion. Source of Funding: None © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e689 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Nikos Crist More articles by this author Christian Karcher More articles by this author Thairo Pereira More articles by this author Helen L. Bernie More articles by this author Expand All Advertisement PDF downloadLoading ...