MedGen

Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene. [from MONDO]

Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene. [from MONDO]

X-linked spermatogenic failure-4 (SPGFX4) is characterized by male infertility due to azoospermia or oligoasthenoteratozoospermia. Some patients show maturation arrest, and Sertoli cell-only phenotype has been observed (Hardy et al., 2021; Arafat et al., 2021; Kherraf et al., 2022). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]