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

Abstract

Structured Abstract OBJECTIVE: To study the potential association between pure male factor infertility (MFI) and the likelihood of a positive family history of cancer, since limited information exists on the oncological risk among relatives of men experiencing infertility.

Design: This cross-sectional, retrospective analysis considered the latest 1168 men seeking medical help for primary couple's infertility at a single centre. Infertility was defined according to the WHO criteria.

Subjects: 1168 men seeking medical help for primary couple's infertility at a single centre.

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

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

Results: Of 1168, 168 (14.4%) patients reported a positive cancer familial history. Patients with positive cancer family history were older [median (IQR): 37.00 (33.00, 41.00) vs. 38.00 (34.00, 41.00) years; p=0.036)] and more frequently smokers [271 (27.1) vs. 64 (38.1); p<0.001]. A positive family history for malignancies was observed in 79 (40.9%), 66 (34.2%), 36 (18.7%) and 6 (3.1%) patients with a 1^st, 2^nd, 3^rd and 4^th 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; p=0.048) and in 1^st-degree relatives (HR:1.01; 95% CI:1.00 - 1.03; p=0.050). 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; p=0.043) and in 1^st-degree relatives (HR:1.92; 95% CI:1.01- 3.84; p=0.049).

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