An increasing number of couples require medical assistance to achieve a pregnancy, and more than 2% of the births in Western countries now result from assisted reproductive technologies. To identify genetic variants responsible for male infertility, we performed a whole-genome SNP scan on patients presenting with total globozoospermia, a primary infertility phenotype characterized by the presence of 100% round acrosomeless spermatozoa in the ejaculate. This strategy allowed us to identify in most patients (15/20) a 200 kb homozygous deletion encompassing only DPY19L2, which is highly expressed in the testis. Although there was no known function for DPY19L2 in humans, previous work indicated that its ortholog in C. elegans is involved in cell polarity. In man, the DPY19L2 region has been described as a copy-number variant (CNV) found to be duplicated and heterozygously deleted in healthy individuals. We show here that the breakpoints of the deletions are located on a highly homologous 28 kb low copy repeat (LCR) sequence present on each side of DPY19L2, indicating that the identified deletions were probably produced by nonallelic homologous recombination (NAHR) between these two regions. We demonstrate that patients with globozoospermia have a homozygous deletion of DPY19L2, thus indicating that DPY19L2 is necessary in men for sperm head elongation and acrosome formation. A molecular diagnosis can now be proposed to affected men; the presence of the deletion confirms the diagnosis of globozoospermia and assigns a poor prognosis for the success of in vitro fertilization.

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This study aimed to investigate the effects of heavy metals on measures of male fertility. One hundred and two infertile men with occupational exposure and thirty fertile men were included in this study. Blood and urinary levels of lead, cadmium, zinc and copper were measured by atomic absorption spectrophotometry. Semen parameters and a motile sperm organelle morphology examination were also performed. Measures of hormonal levels, oxidation–reduction potential, DNA fragmentation index and chromatin condensation were assessed for all participants. Heavy metals levels, oxidative stress and DNA quality were significantly higher in the infertile group compared to controls. FSH and testosterone levels were lower in the infertile group. A urinary cadmium level was positively associated with abnormal sperm morphology (r = .225, p < .05). Normal morphology was inversely correlated with the duration of the exposure (r = −.227, p = .022). The blood lead level was positively related to the level of testosterone (r = .223, p = .031). Cadmium and lead blood levels were positively correlated with the level of chromatin decondensation (r = .528, p < .001; r = .280, p = .017). Our study showed that occupational exposure to heavy metals is very harmful to reproductive health. DNA quality and oxidative stress investigations must be recommended for reprotoxic exposed patients prior to in vitro fertilisation treatment.

Background. Intramural pregnancy is a rare form of ectopic pregnancy, difficult to diagnose and generally complicated by uterine rupture. Case. A 38-year-old woman, gravida 5 para 1, was diagnosed with intramural pregnancy by ultrasound and confirmed with MRI. A uterine rupture occurred, which lead to laparotomy and a conservative treatment. Conclusion. Early diagnosis is necessary for conservative treatment.

Cesarean scar pregnancy is a rare type of ectopic pregnancy associated with severe complications such as uterine rupture, uncontrollable bleeding which may lead to hysterectomy, and definitive infertility. Many therapeutic options are available such as Dilatation & Curetage, excision of trophoblastic tissues using either laparotomy or laparoscopy, systemically administered Methotrexate, and more recently uterine artery embolization. The use of Methotrexate sometimes required laparotomy later because of severe hemorrhage. Through this paper, we demonstrated that viable cesarean scar pregnancy can be managed safely by systemically delivered Methotrexate at the cost of a prolonged followup.

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ObjectivesTo evaluate the long-term efficacy and safety of transobturator four-arm mesh for treating cystoceles.Patients and methodsIn this prospective study, 105 patients had a cystocele corrected between January 2004 and December 2008. All patients had a symptomatic cystocele of stage ⩾2 according to the Baden–Walker halfway stratification. We used only the transobturator four-arm mesh kit (Surgimesh®, Aspide Medical, France). All surgical procedures were carried out by the same experienced surgeon. The patients’ characteristics and surgical variables were recorded prospectively. The anatomical outcome, as measured by a physical examination and postoperative stratification of prolapse, and functional outcome, as assessed by a questionnaire derived from the French equivalents of the Pelvic Floor Distress Inventory, Pelvic Floor Impact Questionnaire and the Pelvic Organ Prolapse–Urinary Incontinence-Sexual Questionnaire, were considered as the primary outcome measures. Peri- and postoperative complications constituted the secondary outcome measures.ResultsAt 36 months after surgery the anatomical success rate (stage 0 or 1) was 93%. On a functional level, all the scores of quality of life and sexuality were improved. The overall satisfaction score (visual analogue scale) was 71.4%. There were no perioperative adverse events. Mesh erosion was reported in 7.6% and mesh retraction in 5.7% of the patients.ConclusionsIf the guidelines and precautions are followed, vaginal prosthetic surgery for genitourinary prolapse has shown long-term benefits. It provides excellent results both anatomically and functionally. However, complications are not negligible and some are specific to prosthetic surgery.

Antenatal renal vein thrombosis is a rarely described diagnostic finding, with variable consequences on kidney function. We present the case of an affected fetus, born at 35-week gestation, with intrauterine oligohydramnios and two small kidneys. A renal ultrasound carried out after birth confirmed the presence of prenatal abnormalities. Renal vein thrombosis was not diagnosed at the time. The baby died 20 days later of kidney failure, metabolic acidosis, and polypnea with severe hypotrophy. Autopsy revealed atrophied kidneys and adrenal glands. The vena cava had thrombosis occupying most of its length. The right renal vein was normal, while the left renal vein was threadlike and not permeable. Histologically, there was necrosis of the left adrenal gland with asymmetrical bilateral renal impairment and signs of ischemic and hemorrhagic lesions. A review of thrombophilia was carried out and a heterozygous mutation in Factor V was found in both the mother and the child.