Globozoospermia: A Case Report and Systematic Review of Literature
Purpose: Globozoospermia is a genetic syndrome characterized by the presence of round-headed spermatozoa and infertility due to the inability of these spermatozoa to fertilize the oocyte. In this article, we present the clinical case of a young globozoospermic patient with a new, not yet described...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Society for Sexual Medicine and Andrology
2023-01-01
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| Series: | The World Journal of Men's Health |
| Subjects: |
| _version_ | 1797976316456206336 |
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| author | Andrea Crafa Rosita Angela Condorelli Sandro La Vignera Aldo Eugenio Calogero Rossella Cannarella |
| author_facet | Andrea Crafa Rosita Angela Condorelli Sandro La Vignera Aldo Eugenio Calogero Rossella Cannarella |
| author_sort | Andrea Crafa |
| collection | DOAJ |
| description | Purpose: Globozoospermia is a genetic syndrome characterized by the presence of round-headed spermatozoa and infertility
due to the inability of these spermatozoa to fertilize the oocyte. In this article, we present the clinical case of a young globozoospermic
patient with a new, not yet described mutation of the DPY19L2 gene. We also performed a systematic review of
the literature on gene mutations, the outcome of assisted reproductive techniques, and the risk of transmission of abnormalities
to the offspring in patients with globozoospermia and made recommendations to offer a more appropriate clinical management
of these patients.
Materials and Methods: We performed a systematic search in the PubMed, Google Scholar, and Scopus databases from their
inception to December 2021. The search strategy included the combination of the following Medical Subjects Headings
(MeSH) terms and keywords: “globozoospermia”, “round-headed spermatozoa”, “round head spermatozoa”, “intracytoplasmic
sperm injection”, “ICSI”, “offspring”, “child health”, “assisted reproductive technique outcome”. All the eligible studies
were selected following the PECOS (Population, Exposure, Comparison/Comparator, Outcomes, Study design) model. The
quality of included studies was assessed by applying the “Cambridge Quality Checklists”.
Results: The main genes involved in the pathogenesis of globozoospermia are DPY19L2, SPATA16, PICK1, GGN, SPACA1,
ZPBP, CCDC62, and CCNB3 genes. Other genes could also play a role. These include C2CD6, C7orf61, CCIN, DNH17,
DNH6, PIWIL4, and CHPT1. Globozoospermic patients should undergo ART to achieve fertility. In particular, intracytoplasmic
sperm injection with assisted oocyte activation or intracytoplasmic morphologically-selected sperm injection appears to
be associated with a higher success rate. Patients with globozoospermia should also be evaluated for the high rate of sperm
aneuploidy which appears to influence the success rate of ART but does not appear to be associated with an increased risk of
transmission of genetic abnormalities to offspring.
Conclusions: This systematic review summarizes the evidence on the gene panel to be evaluated, ICSI outcomes, and the
health of the offspring in patients with globozoospermia. Evidence-based recommendations on the management of patients
with globozoospermia are provided. |
| first_indexed | 2024-04-11T04:49:03Z |
| format | Article |
| id | doaj.art-aa1b666630e14fef9827b07108202eac |
| institution | Directory Open Access Journal |
| issn | 2287-4208 2287-4690 |
| language | English |
| last_indexed | 2024-04-11T04:49:03Z |
| publishDate | 2023-01-01 |
| publisher | Korean Society for Sexual Medicine and Andrology |
| record_format | Article |
| series | The World Journal of Men's Health |
| spelling | doaj.art-aa1b666630e14fef9827b07108202eac2022-12-27T05:27:26ZengKorean Society for Sexual Medicine and AndrologyThe World Journal of Men's Health2287-42082287-46902023-01-01411498010.5534/wjmh.220020Globozoospermia: A Case Report and Systematic Review of LiteratureAndrea Crafa0https://orcid.org/0000-0002-8311-9095Rosita Angela Condorelli1https://orcid.org/0000-0002-5217-9343Sandro La Vignera2https://orcid.org/0000-0002-7113-2372Aldo Eugenio Calogero3https://orcid.org/0000-0001-6950-335XRossella Cannarella4https://orcid.org/0000-0003-4599-8487Department of Clinical and Experimental Medicine, University of Catania, Catania, ItalyDepartment of Clinical and Experimental Medicine, University of Catania, Catania, ItalyDepartment of Clinical and Experimental Medicine, University of Catania, Catania, ItalyDepartment of Clinical and Experimental Medicine, University of Catania, Catania, ItalyDepartment of Clinical and Experimental Medicine, University of Catania, Catania, ItalyPurpose: Globozoospermia is a genetic syndrome characterized by the presence of round-headed spermatozoa and infertility due to the inability of these spermatozoa to fertilize the oocyte. In this article, we present the clinical case of a young globozoospermic patient with a new, not yet described mutation of the DPY19L2 gene. We also performed a systematic review of the literature on gene mutations, the outcome of assisted reproductive techniques, and the risk of transmission of abnormalities to the offspring in patients with globozoospermia and made recommendations to offer a more appropriate clinical management of these patients. Materials and Methods: We performed a systematic search in the PubMed, Google Scholar, and Scopus databases from their inception to December 2021. The search strategy included the combination of the following Medical Subjects Headings (MeSH) terms and keywords: “globozoospermia”, “round-headed spermatozoa”, “round head spermatozoa”, “intracytoplasmic sperm injection”, “ICSI”, “offspring”, “child health”, “assisted reproductive technique outcome”. All the eligible studies were selected following the PECOS (Population, Exposure, Comparison/Comparator, Outcomes, Study design) model. The quality of included studies was assessed by applying the “Cambridge Quality Checklists”. Results: The main genes involved in the pathogenesis of globozoospermia are DPY19L2, SPATA16, PICK1, GGN, SPACA1, ZPBP, CCDC62, and CCNB3 genes. Other genes could also play a role. These include C2CD6, C7orf61, CCIN, DNH17, DNH6, PIWIL4, and CHPT1. Globozoospermic patients should undergo ART to achieve fertility. In particular, intracytoplasmic sperm injection with assisted oocyte activation or intracytoplasmic morphologically-selected sperm injection appears to be associated with a higher success rate. Patients with globozoospermia should also be evaluated for the high rate of sperm aneuploidy which appears to influence the success rate of ART but does not appear to be associated with an increased risk of transmission of genetic abnormalities to offspring. Conclusions: This systematic review summarizes the evidence on the gene panel to be evaluated, ICSI outcomes, and the health of the offspring in patients with globozoospermia. Evidence-based recommendations on the management of patients with globozoospermia are provided.assisted reproductive techniquesglobozoospermiaintracytoplasmic sperm injectionround-headed spermatozoa |
| spellingShingle | Andrea Crafa Rosita Angela Condorelli Sandro La Vignera Aldo Eugenio Calogero Rossella Cannarella Globozoospermia: A Case Report and Systematic Review of Literature The World Journal of Men's Health assisted reproductive techniques globozoospermia intracytoplasmic sperm injection round-headed spermatozoa |
| title | Globozoospermia: A Case Report and Systematic Review of Literature |
| title_full | Globozoospermia: A Case Report and Systematic Review of Literature |
| title_fullStr | Globozoospermia: A Case Report and Systematic Review of Literature |
| title_full_unstemmed | Globozoospermia: A Case Report and Systematic Review of Literature |
| title_short | Globozoospermia: A Case Report and Systematic Review of Literature |
| title_sort | globozoospermia a case report and systematic review of literature |
| topic | assisted reproductive techniques globozoospermia intracytoplasmic sperm injection round-headed spermatozoa |
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