Proteomic identification of target proteins in normal but nonfertilizing sperm.

Objective: To identify the male molecular causes of failures of IVF (with a deficient binding of spermatozoa to the zona pellucida, without any obvious oocyte anomaly), which are undetected by classical sperm analysis.

Design: Case-control prospective study.

Setting: University hospital.

Characterization of a recurrent poor-quality embryo morphology phenotype and zygote transfer as a rescue strategy.

Some patients in IVF programmes repeatedly display an abnormal embryonic development characterized as soon as day 2 post fertilization by a high rate (>60%) of highly fragmented embryos (⩾40% of cytoplasmic fragments) leading to recurrent IVF failures. This study postulated that, for various maternal reasons, some embryos were unable to withstand the in-vitro environment and an early pronucleate-stage transfer was proposed to these couples. Fifty-three patients with recurrent IVF failures (a mean of 2.

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.

One in seven couples worldwide are infertile, and male factor infertility accounts for approximately 30%-50% of these cases. Although many genes are known to be essential for gametogenesis, there are surprisingly few monogenic mutations that have been conclusively demonstrated to cause human spermatogenic failure. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis, and it is expressed in the steroidogenic tissue of the developing and adult human gonad.

Successful pregnancy by insemination of spermatozoa in a woman with a human seminal plasma allergy: should in vitro fertilization be considered first?

Objective: To raise the possibility that pregnancy can be obtained by assisted reproductive techniques in patients with human seminal plasma allergy.

Design: Case report.

Setting: University hospital.

Progressive alcohol-induced sperm alterations leading to spermatogenic arrest, which was reversed after alcohol withdrawal.

This is a report of a 6-year follow-up of a male patient's semen parameters during heavy chronic alcohol intoxication and after withdrawal. A slowly progressive negative impact of alcohol could be observed: isolated moderate teratozoospermia was firstly noted followed by oligoasthenoteratospermia. Then a severe worsening resulted in cryptozoospermia and ultimately in azoospermia.

Determinants of pregnancy rate in the donor oocyte model: a multivariate analysis of 450 frozen-thawed embryo transfers.

Background: Conflicting results have been published about the determinants of pregnancy after oocyte donation (OD). We used the OD model to determine predictive factors of pregnancy in the recipient after frozen-thawed embryo transfer (FTET) in a specific series where all the embryos were cryopreserved without any prior selection for fresh transfer.

Methods: We report a retrospective study in a university tertiary care center.

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

Background: The metabolic pathway of folate is thought to influence DNA stability either by inducing single/double stranded breaks or by producing low levels of S-adenosyl-methionine leading to abnormal gene expression and chromosome segregation. Polymorphisms in the genes encoding enzymes in the folate metabolism pathway show distinct geographic and/or ethnic variations and in some cases have been linked to disease. Notably, the gene Methylenetetrahydrofolate reductase (MTHFR) in which the homozygous (TT) state of the polymorphism c.

Learning curve of vitrification assessed by cumulative summation test for learning curve (LC-CUSUM).

We used the cumulative summation test for learning curve (LC-CUSUM), a specifically designed statistical tool, to evaluate the first 50 procedures performed by a trainee in vitrification and to provide a usable model for monitoring the learning process of this technique. Given the lack of models to evaluate IVF technologies, the CUSUM methodology could prove useful for quality control in laboratories.

Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome.

The aim of this study is to determine if Müllerian agenesis has a genetic basis linked to the WNT genes. Genomic DNA analyses for mutations in the coding sequences of four members of this family in a series of 11 women with Mayer-Rokitansky-Kuster-Hauser syndrome found four variants in the coding sequence of these genes, but causal mutations were not observed. This supports the hypothesis that mutations in the coding sequence of WNT4, WNT5A, WNT7A, and WNT9B are not responsible for the Mayer-Rokitansky-Kuster-Hauser syndrome.

Y-chromosome AZFc structural architecture and relationship to male fertility.

Objective: To determine if there is a relationship between various forms of partial AZFc deletions and spermatogenic failure.

Design: Case-control study.

Setting: Infertility clinic (Tenon Hospital, Paris).

[Y chromosome and male infertility: what is a normal Y chromosome?].

The human Y chromosome contains a number of genes and gene families that are essential for germ cell development and maintenance. Many of these genes are located in highly repetitive elements that are subject to rearrangements. Deletion of azoospermia factor (AZF) regions AZFa, AZFb, and AZFc are found in approximately 10-15% of men with severe forms of spermatogenic failure.

Influence of sickle cell disease and treatment with hydroxyurea on sperm parameters and fertility of human males.

Background: Recent progress in the treatment of sickle cell disease, in particular the use of hydroxyurea, has considerably modified the prognosis of this disease. Many more patients now reach reproductive age. The objective of this study was to assess the potential impact of hydroxyurea on the semen of patients.

Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection.

Objective: To raise the possibility that a familial chromosomal translocation associated with teratozoospermia can disrupt a gene necessary for flagellum assembly.

Design: Case report.

Setting: University hospital.

GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure.

No statistically significant difference in deletion frequency was found between infertile patients and a control group. It is suggested that in some populations the gr/gr deletion might be an inconsequential polymorphism.

Luteinizing hormone concentrations after gonadotropin-releasing hormone antagonist administration do not influence pregnancy rates in in vitro fertilization-embryo transfer.

Objective: To determine the impact of circulating LH concentrations during controlled ovarian hyperstimulation on the outcome of IVF.

Design: Retrospective study.

Setting: University hospital.