March 21, 2026 · Human reproduction (Oxford, England) · DOI: 10.1093/humrep/deag038

A clinical protocol for the detection of comorbidities associated with monogenic causes of male infertility

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The authors aimed to establish a systematic framework for identifying comorbidities associated with monogenic causes of male infertility. They developed a seven-step protocol to generate gene-specific phenotyping for two men with infertility linked to the genes MEI1 and DNAH17, assessing potential health risks through targeted questionnaires and clinical tests. While initial results showed no significant comorbidities, the authors emphasize the need for further phenotyping of additional patients to confirm these findings.

G W van der Heijden, D Westra, M C S van Olden, W Hobo, M S Oud, R M Smits, Ö Baysal, H Bogers, K D'Hauwers, M J E Kempers, J F M Jacobs, J A Veltman, M F Stokman, L Ramos

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