What are the other Names for this Condition? (Also known as/Synonyms)

• Male Infertility due to Round-Headed Spermatozoa
• Spermatogenic Failure 9 (SPGF9)
• Total Globozoospermia

What is Globozoospermia? (Definition/Background Information)

• 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
• 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
• 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

(Source: Globozoospermia; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Globozoospermia? (Age and Sex Distribution)

• Globozoospermia is a rare congenital disorder. The presentation of symptoms may occur in adulthood
• The disorder exclusively affects males
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Globozoospermia? (Predisposing Factors)

• A positive family history may be an important risk factor, since Globozoospermia can be inherited
• Currently, no other risk factors have been clearly identified for this condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Globozoospermia? (Etiology)

• In a majority of cases, Globozoospermia is caused by mutation(s) in the DPY19L2 gene 
• The condition is inherited in an autosomal recessive manner

Autosomal recessive pattern of inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Globozoospermia?

The signs and symptoms of Globozoospermia may include:

• Low semen volume
• Abnormal sperm structure, with round rather than oval head
• Absence of sperm cap (acrosome) that aids in penetration of egg membrane

How is Globozoospermia Diagnosed?

Globozoospermia is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Globozoospermia?

The complications of Globozoospermia may include:

• Infertility
• Low self-esteem

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Globozoospermia Treated?

• There is no cure for Globozoospermia, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops
• A treatment option to help affected individuals have children biologically is assisted reproduction, with intracytoplasmic sperm injection (ICSI) and oocyte (egg) activation

How can Globozoospermia be Prevented?

Globozoospermia may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Globozoospermia? (Outcomes/Resolutions)

• The prognosis of Globozoospermia is dependent upon the severity of the signs and symptoms and associated complications, if any
• In some cases, assisted reproduction techniques may help affected men have children biologically
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Globozoospermia:

Globozoospermia is also known by the following names:

• Complete Globozoospermia
• Male Infertility due to Globozoospermia
• Round-Headed Sperm Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/