Publications by authors named "Beatrice Dorphin"
Article Synopsis
- Globozoospermia is a type of male infertility characterized by round-headed sperm that lack an acrosome, with genetic anomalies in the DPY19L2 gene accounting for 50-70% of cases, often due to complete gene deletions.* -
- A study involving 69 patients found that 36% had homozygous deletions of the DPY19L2 gene, and even higher proportions of genetic defects correlated with increased rates of globozoospermia, indicating a strong relationship between genotype and phenotype.* -
- The study suggests a new diagnostic approach focusing on patients with over 50% globozoospermia by initially testing for DPY19L2 deletions using
Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in encoding a serine protease inhibitor believed to target acrosin, the main sperm acrosomal protease. In accord with these findings, we observed that homozygous KO male mice had azoospermia.
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- The study aimed to discover new mutations in the AURKC gene of patients with macrozoospermia and to explore the relationship between their genetic changes and observed phenotypes.
- Researchers discovered a new non-sense mutation, p.Y248*, which accounts for 13% of all mutant alleles, but found no phenotype differences compared to the previously known main mutation, c.144delC.
- The study involved 87 patients with primary infertility from multiple countries, where sperm analysis and extensive molecular testing of the AURKC gene were conducted to assess the mutations and their impacts.
Article Synopsis
- Hepatitis B virus (HBV) infection may negatively affect male fertility by reducing sperm motility and impacting fertilization success.
- A study comparing 32 IVF cycles in couples with male HBV infection to 64 cycles in non-infected couples found significantly lower sperm motility and a higher low fertilization rate (LFR) in the HBV group.
- Despite the reduced fertilization success, the overall quality of embryos on days 2 or 3 and the implantation and pregnancy rates were similar between the two groups.