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GTR Home > Conditions/Phenotypes > Spermatogenic failure, X-linked, 5

Spermatogenic failure, X-linked, 5

Summary

X-linked spermatogenic failure-5 (SPGFX5) is characterized by male infertility due to asthenoteratozoospermia. Patient sperm shows reduced or absent progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, including short, coiled, irregular caliber, absent, and/or angulated flagella. Pregnancy may be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CT5.1, SPGFX5, SSRC, SSX1
    Summary: SSX family member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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