Globozoospermia

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Disease Overview

Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility.[11136] Approximately 70% of men with globozoospermia have changes (mutations) in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia.[11136][11137] Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.[11138]


Synonyms

  • Round-headed sperm syndrome
  • SPERMATOGENIC FAILURE 9
  • SPGF9
  • GLOBOZOOSPERMIA, COMPLETE
  • GLOBOZOOSPERMIA, TOTAL
  • Male infertility due to globozoospermia
  • Male infertility due to round-headed spermatozoa
  • Mae infertility due to round-headed spermatozoa

For more information, visit GARD.

National Organization for Rare Disorders