A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).

Infertility affects about 15% of couples of childbearing age. About half of these cases can be attributed predominantly to a male factor, such as a quantitative or qualitative impairment in spermatogenesis. The first-line genetic screening for non-obstructive azoospermia is limited to karyotyping (to identify chromosome abnormalities) and Y chromosome microdeletions screening, with a view to explaining the spermatogenetic failure and evaluating the likelihood of sperm retrieval in a testicular biopsy.

[EEQ in clinical embryology: a starting program].

Every laboratory including those working in assisted reproductive technologies have to be accredited EN ISO 15189 before 2020. This standardisation includes an external quality evaluation (EQE). In order to work out an EQE tool, we used images extracted from our own database developed during daily practice.

Sperm parameters and male fertility after bariatric surgery: three case series.

Recent studies have underlined the impact of obesity on sperm parameters, but very few data are available on the effect of weight loss on male fertility. This article reports the case series of three male patients who underwent rapid and major weight loss following bariatric surgery and the consequences of this surgery on semen parameters and fertility. A severe worsening of semen parameters was observed during the months after bariatric surgery, including extreme oligoasthenoteratozoospermia, but azoospermia was not observed.

[The virtual slide: a new tool for the External Quality Control for the spermatozoid assessment morphology].

As part of the accreditation procedures, External Quality Control (EQC) must be performed for all biological determinations. In the exploration of male infertility, the spermocytogram is very important because it is often used as first line and an error of interpretation may have dramatic consequences. Alongside the EQC which usely consists of carrying out preparation slides (stained or not), we tested the use of a slide scanned from a stained specimen ("virtual slide").

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.