Successful Sperm Retrieval in Azoospermia with Partial AZFA Deletion and CFTR Mutation

This case report details a successful sperm retrieval and subsequent childbirth in a 29-year-old male with azoospermia due to a partial AZFa deletion and a CFTR mutation leading to congenital unilateral absence of the vas deferens (CUAVD). After 1.5 years of infertility, the patient underwent microdissection testicular sperm extraction (microTESE), which revealed viable sperm. This sperm was used for fresh in-vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI), resulting in the birth of a healthy child. The findings suggest that microTESE and fresh IVF with ICSI can facilitate conception in patients with non-obstructive azoospermia caused by specific genetic deletions, including cases involving both AZFa and CFTR mutations.