SNP Shot: Genomic Insights

Macrozoospermia is a male-specific condition that results in infertility due to the presence of abnormal sperm.

Men with macrozoospermia have sperm cells where almost all exhibit unusually large and malformed heads. The sperm head, which carries the male's DNA for reproduction, typically holds one copy of each chromosome. However, in macrozoospermia, the sperm heads contain extra chromosomes, often four copies instead of the standard single copy. This surplus genetic material causes the enlarged head size. Furthermore, instead of the usual single tail (flagellum), these sperm often possess multiple flagella, most commonly four.

Due to this excess genetic material, fertilization by these abnormal sperm cells leads to either failed embryo development or miscarriage.

Inheritance:

Macrozoospermia follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene within each cell must have mutations for the condition to manifest. Individuals with only one copy of the mutated gene are carriers, typically displaying no symptoms, but are capable of passing the gene on to their offspring.