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Male infertility due to large-headed multiflagellar polyploid spermatozoa

Disease definition

A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).


Classification level: Subtype of disorder
  • Synonym(s):
    • Macrocephalic sperm head syndrome
    • Male infertility due to macrozoospermia
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: N46
  • OMIM: 243060
  • UMLS: C0403812
  • MeSH: -
  • GARD: 12385
  • MedDRA: -
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