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GENATLAS PHENOTYPE
last update : 15/06/2006
Symbol AZFA
Location Yq11.23
Name nonobstructive spermatogenic failure
Other name(s) Sertoli cell only syndrome (MIM 400042)
Corresponding gene USP9Y , DDX3Y
Other symbol(s) AZF, SCOS, SCO, DELYQ
Main clinical features
  • male infertility, characterized by azoospermia/severe oligospermia
    • Genetic determination genomic disorder
    chromosomal
    Function/system disorder sex-genitalia
    endocrinology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   including USP9Y, AZFAT1 and DBY in severe azoospermia, and caused by recombination between HERV15 proviruses A and B (see HERV15A, HERV15B) including only DBY in mild form
    various types     naturally occuring AZF gene-specific mutations are extremely rare
    Remark(s) AZFa deletion is relatively rare among Yq deletions; complete deletion of USP9Y is compatible with normal spermatogenesis (Luddi,09)
    Genotype/Phenotype correlations mutation of USP9Y may be associated with a less severe phenotype and compatible with natural transmission