Intracytoplasmic sperm injection in partial globozoospermia.

OBJECTIVE: To compare the outcome of intracytoplasmic sperm injection (ICSI) in patient couples where the male partner has partial globozoospermia with the outcome in a general ICSI population. DESIGN: Case-control study. SETTING: Center for Reproductive Medicine, Radboud University Nijmegen Medical Center, the Netherlands, a tertiary referral center. PATIENT(S): Between 1997 and 2005, 42 couples were identified in which the male presented with partial globozoospermia; 27 couples treated with ICSI were matched with 263 control couples from a general ICSI population regarding female age and year of first ICSI cycle. INTERVENTION(S): One ICSI treatment (1-10 ICSI cycles). MAIN OUTCOME MEASURE(S): Live birth rate after one ICSI treatment (1-10 ICSI cycles). RESULT(S): In the partial globozoospermia group, the live birth rate was 66.7% compared with 50.0% in the control group. In partial globozoospermia, three out of 21 pregnancies ended in a miscarriage, one major birth defect occurred, and one pregnancy ended in a neonatal death due to sepsis in a premature child, compared with four stillborn in the control group. CONCLUSION(S): ICSI is an effective treatment in couples that failed to conceive spontaneously within 1 year combined with male infertility due to partial globozoospermia. The fertilization rates and the live birth rates in this specific group did not differ from those of the general ICSI population.

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.

Globozoospermia is a rare (incidence <0.1% in male infertile patients) form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. It originates from a disturbed spermiogenesis, which is expected to be induced by a genetic factor. Several family cases and recessive mouse models with the same phenotype support this expectation. In this study, we present a consanguineous family with three affected brothers, in whom we have identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. This is the first example of a nonsyndromic male infertility condition in humans caused by an autosomal gene defect, and it could also mean that the identification of other partners like SPATA16 could elucidate acrosome formation.