Unraveling familial ties: elevated sperm DNA fragmentation index in men with infertility and familial cancer susceptibility.

Abstract

Objective: To study the potential association between pure male factor infertility (MFI) and the likelihood of a positive family history of cancer because limited information exists on the oncologic risk among relatives of men experiencing infertility.

Design: This cross-sectional, retrospective analysis considered the latest 1,168 men seeking medical help for primary couple's infertility at a single center. Infertility was defined according to the World Health Organization criteria.

Subjects: A total of 1,168 men seeking medical help for primary couple's infertility at a single center.

Intervention(s): Patients underwent thorough assessments, including medical history, measured body mass index, laboratory investigations including semen analyses and sperm DNA fragmentation (SDF) index testing.

Main outcome measure(s): Abnormal SDF was defined as >30%. Descriptive statistics and logistic regression analyses tested the association between semen parameters, SDF, and positive cancer family history.

Result(s): Of 1,168, 168 (14.4%) patients reported a positive cancer familial history. Patients with positive cancer family history were older (median interquartile range [IQR]: 37.00 [33.00-41.00] vs. 38.00 [34.00-41.00] years) and more frequently smokers (271 [27.1] vs. 64 [38.1]). Positive family history for malignancies was observed in 79 (40.9%), 66 (34.2%), 36 (18.7%), and 6 (3.1%) patients with a 1st, 2nd, 3rd, and 4th degree of kinship, respectively. At multivariable logistic regression analysis, SDF was positively associated with an increased risk of positive cancer family history in any (HR, 1.12; 95% CI, 1.04-2.1) and in 1st-degree relatives (HR, 1.01; 95% CI, 1.00-1.03). Similarly, abnormal SDF was associated with an increased risk of positive cancer family history in any relative (HR, 1.78; 95% CI, 1.12-2.87) and in 1st-degree relatives (HR, 1.92; 95% CI, 1.01-3.84).

Conclusion: Almost 14% of patients with MFI reported a familial history of cancer. Greater SDF levels emerged to be associated with a higher likelihood of a positive family history of cancer.