IllnessTeratozoospermia, differential diagnosis

NGS +

Male infertility due to teratozoospermia due to a single gene mutation is a rare genetic cause of male infertility due to altered morphology, such as macrozoospermia or globozoospermia, in over 85% of the sperm. Some genes in mutated form are known to cause teratozoospermia. This is a heterogeneous group of disorders encompassing a broad spectrum of abnormal sperm phenotypes affecting exclusively or simultaneously the head, neck, midpiece, and/or tail. Head integrity is critical for normal sperm function, and head defects consistently result in male infertility. The DNA-diagnostic yield is unknown. An inconspicuous molecular genetic result does not exclude the clinical diagnosis

Reference: doi: 10.1016/j.beem.2020.101473.

• Allelic: Pregnancy loss, recurrent, 4 (SYCP3)
• "Globozoospermia" (CCDC62)
• "Macrozoospermia" (AURKC)
• "Teratozoospermia" (PICK1)
• "Teratozoospermia" (ZPBP)
• Heterotaxy; male infertility [panelapp] (DNAH6)
• Spermatogenic failure 16 (SUN5)
• Spermatogenic failure 21 (BRDT)
• Spermatogenic failure 26 (TSGA10)
• Spermatogenic failure 31 (PMFBP1)
• Spermatogenic failure 4 (SYCP3)
• Spermatogenic failure 44 (CEP112)
• Spermatogenic failure 5 (AURKC)
• Spermatogenic failure 6 (SPATA16)
• Spermatogenic failure 9 (DPY19L2)