Review of Reproductive Health in Males With Cystic Fibrosis: Mechanism, Diagnosis, Treatment, and Future Directions

We aim to summarize the current knowledge of fertility in males with cystic fibrosis (MwCF) including reproductive outcomes, the role of the cystic fibrosis transmembrane conductance regulator mutation in sperm function, patient perspectives for MwCF, and review future directions.

This narrative review synthesizes current literature and clinical guidance regarding male infertility in MwCF. Primary sources were identified through targeted database searches and cross-referencing bibliographies of landmark studies. Emphasis was placed on high-impact original research and clinical research that have shaped current practice.

MwCF must undergo surgical sperm retrieval along with intracytoplasmic sperm injection (ICSI) to have a biological child. Emerging research suggests that this anatomic anomaly may not be the only contributing factor to male fertility outcomes. Several studies have demonstrated spermatogenic dysfunction in MwCF. Limited data exists regarding assisted reproductive outcomes in MwCF and much of this data was published prior to the advent of modulator therapy (MT), raising the question as to whether these findings are applicable to today's patients. Additionally, hypogonadism may be more prevalent in MwCF compared to the general population, yet no guidance exists on screening, leading to missed opportunities to improve quality of life and other physiologic benefits.

Given the necessity for assisted reproduction for MwCF, early diagnosis and referral to a reproductive urologist are critical for helping patients navigate the logistical challenges of biological fatherhood. Proactive counseling from adolescence ensures that families can realistically prepare for the emotional, surgical, and financial complexities of the reproductive journey.