This case report highlights a successful sperm retrieval and subsequent conception in a 29-year-old male with non-obstructive azoospermia caused by a partial AZFa microdeletion and obstructive azoospermia due to a CFTR mutation associated with congenital unilateral absence of the vas deferens (CUAVD). The patient, who had a 1.5-year history of infertility, underwent a thorough evaluation revealing low total testosterone levels, normal FSH and LH, and complete azoospermia in semen analysis. Scrotal ultrasound confirmed left-sided CUAVD. Genetic testing identified a 5T/11G CFTR mutation and a sY84 AZFa partial deletion in the USP9Y gene region, both contributing to his infertility. The patient was treated with clomiphene to normalize testosterone levels and optimize spermatogenesis. After counseling, the decision was made to proceed with microTESE (microsurgical testicular sperm extraction), despite the majority of seminiferous and epididymal tubules appearing sclerotic during the procedure. Nevertheless, viable sperm (2-3 sperm/hpf) was successfully retrieved and used in fresh in-vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI), ultimately resulting in the birth of a healthy child.
In addition, a literature review revealed six studies on fertility outcomes in 10 patients with AZFa partial deletions in the USP9Y gene region. Among these, four patients successfully conceived following microTESE and IVF. This case is unique as it demonstrates that the combination of both a partial AZFa deletion and CFTR mutation does not preclude successful sperm retrieval and conception. Urologists should consider microTESE and IVF with ICSI as viable options for patients with these genetic abnormalities, as this is the first reported case of successful conception in such a patient through these techniques.
