SNP Shot: Genomic Insights

Globozoospermia is a male-specific disorder defined by sperm cells with an atypical structure, causing infertility, or the inability to conceive a biological child.

Typically, healthy sperm possess an oval-shaped head capped by an acrosome. This acrosome holds enzymes crucial for penetrating the egg's outer layer, enabling fertilization. However, in males affected by globozoospermia, sperm cells exhibit a round head lacking an acrosome. This abnormality prevents the sperm from successfully fertilizing an egg, resulting in infertility.

Inheritance:

Globozoospermia follows an autosomal recessive inheritance pattern. This means that for the condition to manifest, an individual must inherit two copies of the mutated gene, one from each parent. The parents, while carriers of a single mutated gene, usually do not display any symptoms of the condition themselves.