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.