We report a successful ongoing pregnancy obtained in a case of total globozoospermia after intracytoplasmic morphologically selected sperm injection (IMSI) with oocyte activation. The first semen analysis on investigation showed partial globozoospermia. However, under high magnification assessment at oocyte retrieval only round headed sperm were observed. Considering the high risk of a complete...

SPACA1 is a membrane protein that localizes in the equatorial segment of spermatozoa in mammals and is reported to function in sperm-egg fusion. We produced a Spaca1 gene-disrupted mouse line and found that the male mice were infertile. The cause of this sterility was abnormal shaping of the sperm head reminiscent of globozoospermia in humans. Disruption of Spaca1 led to the disappearance of th...

We report the successful outcome of intracytoplasmic sperm injection (ICSI) treatment in two siblings with familial globozoospermia. After controlled ovarian hyperstimulation and oocyte pick-up, retrieved oocytes were mechanically activated before ICSI and a fertilization rate of 33.3% was achieved in the first case. The second couple underwent ICSI without oocyte activation and a 9.1% fertiliz...

background: globozoospermia is a rare (incidence of 0.1% among andrological patients) and poorly understood condition, but a severe disorder in male infertility. this case report detailed the course of treatment and protocol of a patient with type 1 globozoospermia using intracytoplasmic sperm injection (icsi) and oocyte activation by calcium ionophore, which yielded conception and birth of a h...

cases found that 11 patients (61.1%) had a homozygous deletion of a 200‐kb fragment of the DPY19L gene, two (11.1%) had a homozygous nonsynonymous mutation in exon 8 (p.R298C), one (5.6%) had a homozygous new splice site mutation at the junction of exon‐intron 16 (c.1579_1580 + 4delAGGTAAinsTCAT), and four (22.2%) had no mutations in DPY19L2, SPATA16, or PICK1.4 In humans, the DPY19L2 gene is l...

Abstract Study question How should men with globozoospermia be managed in Assisted Reproductive Technologies (ART)? Summary answer IMSI (intracytoplasmic morphologically selected sperm injection), without oocyte activators (OA) allows to obtain a live birth, even when there is mutation of DPY19L2 gene. What known already Globozoospermia rare syndrome found less than 0.1% the infertile populatio...

BACKGROUND Male infertility affects >20 million men worldwide and represents a major health concern. Although multifactorial, male infertility has a strong genetic basis which has so far not been extensively studied. Recent studies of consanguineous families and of small cohorts of phenotypically homogeneous patients have however allowed the identification of a number of autosomal recessive cau...

Acrosome plays an integral role during fertilization and its absence in individuals with globozoospermia leads to failure of in vitro fertilization (IVF) and oocyte activation post-intracytoplasmic sperm injection (ICSI). A variety of processes, organelles and structures are involved in acrosome biogenesis including, trans-Golgi network (TGN), acroplaxome and cellular trafficking. This review a...