Male infertility due to globozoospermia

Male infertility due to globozoospermia (also known as round-headed sperm syndrome) is a rare genetic condition in which a man's sperm cells have a characteristic round shape instead of the normal oval or elongated head. This abnormal morphology results from the absence or severe malformation of the acrosome, a cap-like structure on the sperm head that contains enzymes essential for penetrating and fertilizing the egg. The condition primarily affects the male reproductive system and is one of the most severe forms of teratozoospermia (abnormal sperm morphology). Men with globozoospermia typically have normal libido, hormone levels, and sexual function, but are unable to achieve natural conception because their sperm cannot undergo the acrosome reaction required for fertilization. Globozoospermia can be classified as total (type I), where 100% of sperm are round-headed, or partial (type II), where a proportion of sperm exhibit the round-headed phenotype alongside sperm with other morphological abnormalities. The most commonly implicated gene is DPY19L2, located on chromosome 12, with homozygous deletions or mutations accounting for a significant proportion of cases. Other genes associated with this condition include SPATA16 and PICK1. Diagnosis is made through semen analysis showing the characteristic round-headed sperm lacking acrosomes, which can be confirmed by electron microscopy or acrosome-specific staining. Currently, there is no curative treatment for globozoospermia. However, assisted reproductive technologies, particularly intracytoplasmic sperm injection (ICSI), offer the possibility of biological fatherhood for affected men. In some cases, artificial oocyte activation (AOA) techniques are used in conjunction with ICSI to improve fertilization rates, as globozoospermic sperm often fail to activate the egg even when injected directly. Success rates with ICSI combined with AOA have been reported as variable but promising, and healthy pregnancies and live births have been achieved. Genetic counseling is recommended for affected individuals and their families.

Common questions about Male infertility due to globozoospermia