Male infertility due to large-headed multiflagellar polyploid spermatozoa
ORPHA:137893· ICD-10 N46
Definition
A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).
- Inheritance
- Autosomal recessive