Macrozoospermia

Alternate names

Male infertility with large-headed, multiflagellar, polyploid spermatozoa; infertility associated with multi-tailed spermatozoa and excessive dna; spermatogenic failure 5; spgf5 ; male infertility due to large-headed multiflagellar polyploid spermatozoa; macrocephalic sperm head syndrome; male infertility due to macrozoospermia

Clinical features

Macrozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).

Epidemiology

Macrozoospermia is estimated to affect 1 in 10,000 males in North Africa. The prevalence of the condition outside this region is unknown.

Cause

Mutations in the AURKC gene cause macrozoospermia. The AURKC gene provides instructions for making a protein called aurora kinase C. This protein is abundant in male testes, which are the male reproductive organs in which sperm are produced and stored. In the testes, this protein regulates the division of sperm cells. Aurora kinase C ensures that the mechanisms for cell division are in place and helps chromosomes properly align with each other so that every new sperm cell contains one copy of each chromosome after cell division.

AURKC gene mutations that cause macrozoospermia lead to the production of a nonfunctional protein or a protein that is quickly broken down. This lack of aurora kinase C blocks cell division in sperm cells. Without cell division, the chromosomes are not split among multiple new sperm cells. As a result, affected sperm cells contain extra chromosomes, usually four copies of each instead of the usual one.

Inheritance

Autosomal recessive inheritance, a 25% chance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Signs and symptoms

In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male's genetic information that is to be passed on to the next generation.

Normally, the head of a sperm cell contains one copy of each chromosome. In men with macrozoospermia, the sperm cell head contains extra chromosomes, usually four copies of each instead of the usual one. This additional genetic material accounts for the larger head size of the sperm cell. Additionally, instead of having one tail (flagellum) per sperm cell, affected sperm have multiple flagella, most often four.

Because of the additional genetic material, if one of these abnormal sperm cells combines with an egg cell, the embryo will not develop or the pregnancy will result in miscarriage.

Diagnosis

Almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male's genetic information that is to be passed on to the next generation.

NIH genetic and rare disease info

• NIH info on Macrozoospermia

Macrozoospermia is a rare disease.

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