China
Africa
Explore chapters and articles related to this topic
Genetic Causes of Male Infertility
Published in Botros Rizk, Ashok Agarwal, Edmund S. Sabanegh, Male Infertility in Reproductive Medicine, 2019
Amr Abdel Raheem, Mohamed Wael Ragab, Tarek M. A. Aly
Globozoospermia is an autosomal recessive disorder reported in 0.1% of the infertile male population and is characterized by sperm showing round heads devoid of acrosomes and, therefore, are unable to fertilize oocytes. The DPY19L2 gene is the most commonly encountered mutation accounting for globozoospermia. Although ICSI is an option for these patients, it has a lower success rate because of the lack of the acrosomal enzymes necessary for oocyte activation and higher rates of sperm aneuploidy [55].
Golgi apparatus regulation of differentiation
Published in C. Yan Cheng, Spermatogenesis, 2018
Louis Hermo, Regiana L. Oliveira, Charles E. Smith, Catherine E. Au, John J. M. Bergeron
Islet cell auto antigen 1-like protein (ICA1L), which has sequence similarities to ICA69 (also known as ICA1), has been identified as a BAR-domain binding partner (Bin, amphiphysin, Rvs) of PICK1 that is crucial for acrosome formation. ICA1L and PICK1 are highly expressed in spermatids and traffic together at different steps of spermiogenesis. ICA1L-knockout mice reveal that PICK1 expression is reduced by 80% in the testes of these mice. Sperm from ICA1L-knockout mice have abnormalities in the acrosome, nucleus, and flagellar mitochondrial sheath formation. Both total and motile sperm numbers are reduced and about half of the remaining sperm have the characteristics of globozoospermia. These defects ultimately result in reduced fertility of male ICA1L-knockout mice. ICA69/ICA1L-double knockout male mice are sterile.163
Severe male factor infertility: Genetic consequences and recommendations for genetic testing
Published in David K. Gardner, Ariel Weissman, Colin M. Howles, Zeev Shoham, Textbook of Assisted Reproductive Techniques, 2017
Katrien Stouffs, Willy Lissens, Sara Seneca
Globozoospermia is a rare (<0.1%) cause of male infertility. A major characteristic of these round-headed spermatozoa is the malformation or absence of the acrosome (81). So far, at least three genes have been associated with this form of teratozoospermia in humans: SPATA16, PICK1, and DPY19L2 (82–85). In all of these cases, the condition is inherited as an autosomal recessive disease. Variants in the DPY19L2 gene are the most prevalent and can be detected in 60%-83.3% of patients with (type I) globozoospermia. Around 26.7%-73.3% of these patients are homozygous for a 200 kb deletion of the DPY19L2 gene (86). Mutations in PICK1 and SPATA16 can be detected in patients with globozoospermia, although the prevalence is very low.
Role of isoprostanes in human male infertility
Published in Systems Biology in Reproductive Medicine, 2020
Cinzia Signorini, Elena Moretti, Giulia Collodel
For the first time, F2-IsoPs were investigated in a case of globozoospermia, a rare genetic sperm defect. Globozoospermia results in primary infertility and low fertilization rate following intracytoplasmic sperm injection due to a reduced ability of globozoospermic sperm to activate the oocyte. This phenotype is observed in less than 0.1% of infertile men and characterized by round-headed sperm lacking the acrosome and by immature chromatin (Moretti et al. 2005; Dam et al. 2007). The F2-IsoP levels were increased both in semen and sperm pellet of a globozoospermic patient versus fertile subjects; the immunolocalization of F2-IsoPs showed a strong label around the sperm head and in the cytoplasmic residue frequently present in this region (Figure 4C). These data indicated that an increased susceptibility to non-enzymatic ARA oxidation could be, at least in part, responsible for fertilization failure in intracytoplasmic sperm injection (Moretti et al. 2019).
New insights into sperm with total globozoospermia: Increased fatty acid oxidation and centrin1 alteration
Published in Systems Biology in Reproductive Medicine, 2019
Elena Moretti, Giulia Collodel, Maria Cristina Salvatici, Giuseppe Belmonte, Cinzia Signorini
Globozoospermia is a rare (incidence <0.1%, Dam et al. 2007) genetic defect that causes male infertility. It is characterized by multiple alterations such as spermatozoa with round heads, absence of acrosomes and anomalies in chromatin condensation (Schirren et al. 1971; Modarres et al. 2019).Two types of globozoospermia are recognized: type I or total globozoospermia in the case of 100% round-headed, acrosome-less spermatozoa, rarer in daily clinical practice, and type II or partial globozoospermia if less than 100% of spermatozoa are affected; both conditions show chromatin abnormalities (Dam et al. 2007; Perrin et al. 2013; Eskandari et al. 2018; Talebi et al. 2018). The presence of consanguineous marriage in families affected by globozoospermia and the reports of two or more affected siblings in several families suggested a genetic contribution to such pathology in humans with an autosomal recessive mode of inheritance (Chansel-Debordeaux et al. 2015). This hypothesis was supported by the description in the literature of KO mice with a globozoospermia-like phenotype lacking different genes (Yan 2009; Coutton et al. 2015). In humans, very few genes have been identified (Liu et al. 2010; Coutton et al. 2015; Escoffier et al. 2015). These findings support the idea of a multigenic disorder, in which several mutations in proteins, essentially involved in acrosome biogenesis, may cause the same morphologic phenotype (Alvarez Sedó et al. 2012).
Artificial oocyte activation with calcium ionophore for frozen sperm cycles
Published in Systems Biology in Reproductive Medicine, 2018
Seda Karabulut, Özlem Aksünger, Can Ata, Yusuf Sağıroglu, İlknur Keskin
Several studies have reported the usage of AOA with CaI as a safe and a reliable method (Ebner et al. 2012). According to the results of the studies evaluating the efficacy of AOA (Moaz et al. 2006; Nasr Esfahani et al. 2008; Borges et al. 2009), it has been considered to be useful in a selected patient population who have experienced TFF or low fertilization outcome in the previous ICSI attempts (Taylor et al. 2010; Sermondade et al. 2011). Furthermore, it has been reported to be beneficial in patients with a compromised fertilization due to globozoospermia (Ebner et al. 2012; Montag et al. 2012; Nasr-Esfahani et al., 2009). However, there is limited data on the efficacy of AOA for different indications including patients having severely decreased sperm parameters (concentration: <1 mil/ml, total motility: <50%, and normal morphology: <1%), FS, and low oocyte count. In the present study, we investigated possible effects of AOA on these groups of patients to achieve and/or enhance fertilization and pregnancy rates while analyzing the incidence and distribution of TFF cases among infertile patients.