Azoospermia/Oligozoospermia and Prostate Cancer are Increased in Families of Women with Primary Ovarian Insufficiency

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Abstract Background Nonobstructive azoospermia (NOA) and primary ovarian insufficiency (POI) have common genetics that may also predispose to cancer risk. Objectives We hypothesized that NOA or severe oligozoospermia and risk of male cancers would be higher in families of women with POI. Methods Women with POI were identified using International Classification of Disease codes in electronic medical records (1995-2021) from two major healthcare systems in Utah and reviewed for accuracy. Using genealogy information in the Utah Population Database, women with POI (n=392) and their relatives were included if there were at least three generations of ancestors available. Men with NOA or severe oligozoospermia (≤5 million/mL) from the Subfertility Health and Assisted Reproduction and the Environment Study were identified in these families and risk was calculated in relatives compared to population rates. The relative risk of prostate and testicular cancer was examined using the Utah Cancer Registry. Results There was an increased risk of NOA/severe oligozoospermia in relatives of women with POI among first- (RR 2.8 [95% CI 1.1, 6.7]; p=0.03), second- (3.1 [1.1, 6.7]; p=0.02), and third-degree relatives (1.8 [1.1, 3.1]; p=0.03). In these families with POI and NOA/oligozoospermia (n=21), prostate cancer risk was higher in first- (3.5 [1.1, 8.1]; p=0.016) and second-degree relatives (3.1 [1.9, 4.8]; p=0.000008). Conclusions The data demonstrate excess familial clustering of severe spermatogenic impairment compared to matched population rates, along with higher prostate cancer risk in relatives of women with POI. These findings support a common genetic contribution to POI, spermatogenic impairment and prostate cancer.

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