Globozoospermia

Globozoospermia (globo) is a rare genetic condition that affects male sperm. Typical or normal sperm has an oval head surrounded by a cap-like covering called an acrosome. With globo, the sperm is missing the acrosome, resulting in round-headed sperm and an inability to penetrate a woman’s eggs (via the acrosome reaction.) The amount of men with this condition is <0.1% of the population.[1] It has no physical symptoms and can only be diagnosed by a semen analysis (SA) - a simple test that tests sperm after ejaculation.

Causes and Treatment for Globozoospermia

The cause of this condition seems to be mostly genetic, with gene deletion or mutation of the sperm cell protein making gene being a main cause.[2][3]

Unfortunately, there is no cure for this condition and the only way to conceive is through in vitro fertilization (IVF) with added intracytoplasmic sperm injection (ICSI). In IVF, a woman’s eggs are extracted and fertilized. After 3 or 5 days of incubation, the surviving embryos are placed back inside the woman in hopes of conception. With ICSI, an embryologist will pick one sperm to inject into the woman’s egg for fertilization. These will be necessary to bypass the necessity of acrosome reaction. For more information on IVF or ICSI, please visit the respective pages in the menu above.

If IVF is not possible or doesn’t work, donor sperm is available for use. This decision may be difficult for some. It is important to weigh all options and make sure to be emotionally okay with it. For more information on donor sperm, please visit the Donor page in the menu above.

[1] “Globozoospermia.” 2016. Genetic and Rare Diseases Information Center (GARD). 2016. https://rarediseases.info.nih.gov/diseases/12502/globozoospermia.

[2] Harbuz, Radu, Raoudha Zouari, Virginie Pierre, Mariem Ben Khelifa, Mahmoud Kharouf, Charles Coutton, Ghaya Merdassi, et al. 2011. “A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation.” The American Journal of Human Genetics 88 (3): 351–61. https://doi.org/10.1016/j.ajhg.2011.02.007.

[3] Koscinski, Isabelle, Elias Elinati, Camille Fossard, Claire Redin, Jean Muller, Juan Velez de la Calle, Françoise Schmitt, et al. 2011. “DPY19L2 Deletion as a Major Cause of Globozoospermia.” American Journal of Human Genetics 88 (3). Elsevier: 344–50. https://doi.org/10.1016/j.ajhg.2011.01.018.