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pubmed: 1472-6483



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Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.
Related Articles

Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.

Reprod Biomed Online. 2018 Apr 04;:

Authors: López-Hernández B, Méndez JP, Coral-Vázquez RM, Benítez-Granados J, Zenteno JC, Villegas-Ruiz V, Calzada-León R, Soderlund D, Canto P

Abstract
RESEARCH QUESTION: The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease.
DESIGN: Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed.
RESULTS: The MLPA analysis demonstrated that one patient presented a heterozygous duplication of the entire SOX9 coding region (above 1.3 value of peak ratio), as well as at least a ~ 483 kb upstream duplication. Moreover, no duplication of other SOX9 probes was observed corresponding to the region between -1007 and -1500 kb upstream. A qRT-PCR analysis showed a duplication of at least -581 kb upstream and ~1.63 kb of the coding region that encompasses exon 3. The limits of the duplication were mapped approximately from ~71539762 to 72122741 of Chr17. No molecular abnormalities were found in the remaining nine patients.
CONCLUSION: This study is thought to be the first report regarding a duplication of SOX9 that is associated with the presence of 46,XX ovotesticular DSD, encompassing at least -581 kb upstream, and the almost entire coding region of the gene.

PMID: 29673731 [PubMed - as supplied by publisher]




Early oocyte denudation does not compromise ICSI cycle outcome: a large retrospective cohort study.
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Early oocyte denudation does not compromise ICSI cycle outcome: a large retrospective cohort study.

Reprod Biomed Online. 2018 Apr 04;:

Authors: Naji O, Moska N, Dajani Y, El-Shirif A, El-Ashkar H, Hosni M, Khalil M, Khalaf Y, Bolton V, El-Toukhy T

Abstract
This retrospective cohort study of 2051 consecutive fresh non-donor intracytoplasmic sperm injection (ICSI) cycles investigated whether time from oocyte retrieval to denudation, precisely measured and recorded by an operator-independent automated radiofrequency-based system, affected cycle outcome. ICSI cycles were divided into two groups: group I (denudation within <2 h of oocyte retrieval, n = 1118) and group II (denudation 2-5 h after oocyte retrieval, n = 933). Univariate analysis by two-sample t-test or Mann-Whitney test was used, as appropriate. Both groups were comparable with regards to mean number of oocytes retrieved and fertilized normally after ICSI. The mean number of embryos transferred and surplus embryos cryopreserved at the blastocyst stage were similar. There was no significant difference in fertilization, embryo implantation, pregnancy, clinical pregnancy or live birth rates between the groups. Analysis of group I ICSI outcome after subdivision into immediate (up to 30 min) and early (31-119 min) denudation showed no statistically significant differences between the two subgroups. In conclusion, early oocyte denudation within <2 h after retrieval does not appear to compromise ICSI cycle outcome, permitting more efficiency and flexibility in scheduling laboratory workload. As this was a retrospective observational study, further prospective studies are required to confirm the findings.

PMID: 29673730 [PubMed - as supplied by publisher]




Perinatal outcomes following IVF with use of donor versus partner sperm.
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Perinatal outcomes following IVF with use of donor versus partner sperm.

Reprod Biomed Online. 2018 Apr 06;:

Authors: Kamath MS, Antonisamy B, Selliah HY, La Marca A, Sunkara SK

Abstract
It is a matter of interest whether pregnancies with the use of donor sperm are associated with a higher risk of adverse perinatal outcomes compared with partner sperm. Anonymized data were obtained from the Human Fertilization & Embryology Authority. Data from 1991 to 2011 involving a total of 95,787 singleton births (4523 with donor sperm and 91,264 with partner sperm) following fresh IVF/intracytoplasmic sperm injection (ICSI) were analysed to compare perinatal outcomes of preterm birth (PTB), low birthweight (LBW) and high birthweight (HBW). The risk of LBW was significantly lower (adjusted odds ratio [aOR] 0.88, 95% confidence interval [CI]: 0.79-0.99) following donor sperm versus partner sperm IVF/ICSI. There was no significant difference in the risk of PTB (aOR 0.93, 95% CI: 0.83-1.04), early PTB (aOR 0.86, 95% CI: 0.67-1.11), very LBW (aOR 0.95, 95% CI: 0.75-1.20), HBW (aOR 1.09, 95% CI: 0.98-1.21) and very HBW (aOR 1.15, 95% CI: 0.90-1.45) following donor sperm versus partner sperm IVF/ICSI. The current study did not demonstrate an increased risk of adverse perinatal outcomes following donor sperm compared with partner sperm IVF/ICSI treatment.

PMID: 29673729 [PubMed - as supplied by publisher]