Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

To date, mutations in two genes, SPATA16 and DPY19L2, have been identified as responsible for a severe teratozoospermia, namely globozoospermia. The two initial descriptions of the DPY19L2 deletion lead to a very different rate of occurrence of this mutation among globospermic patients. In order to better estimate the contribution of DPY19L2 in globozoospermia, we screened a larger cohort including 64 globozoospermic patients. Twenty of the new patients were homozygous for the DPY19L2 deletion, and 7 were compound heterozygous for both this deletion and a point mutation. We also identified four additional mutated patients. The final mutation load in our cohort is 66.7% (36 out of 54). Out of 36 mutated patients, 69.4% are homozygous deleted, 19.4% heterozygous composite and 11.1% showed a homozygous point mutation. The mechanism underlying the deletion is a non-allelic homologous recombination (NAHR) between the flanking low-copy repeats. Here, we characterized a total of nine breakpoints for the DPY19L2 NAHR-driven deletion that clustered in two recombination hotspots, both containing direct repeat elements (AluSq2 in hotspot 1, THE1B in hotspot 2). Globozoospermia can be considered as a new genomic disorder. This study confirms that DPY19L2 is the major gene responsible for globozoospermia and enlarges the spectrum of possible mutations in the gene. This is a major finding and should contribute to the development of an efficient molecular diagnosis strategy for globozoospermia.

Laparoscopic preservation of ovarian function: an underused procedure.

OBJECTIVE: There are many young women undergoing irradiation or chemotherapy without having the option of preserving their ovarian function. Our purpose was to review the literature on laparoscopic ovarian transposition, to evaluate its efficacy, and to provide clinical opinion on the subject. STUDY DESIGN: We evaluated the English articles on laparoscopic ovarian transposition identified through a MEDLINE search. We also report a case of laparoscopic ovarian tranposition in a 28-year-old woman with rectal cancer. RESULTS: Laparoscopic ovarian transposition in women <40 years old is associated with preservation of ovarian function in 88.6% of cases. During and afer irradication, our patient never missed her menstrual periods. CONCLUSION: Despite its simplicity and efficacy, this procedure is underused. We encourage clinicians to discuss and propose it to their patients.

A randomized trial of sublingual misoprostol for cervical priming before hysteroscopy.

STUDY OBJECTIVE: To evaluate the effects of sublingual misoprostol on cervical dilatation before hysteroscopy. DESIGN: Prospective randomized study (Canadian Task Force classification I). SETTING: University teaching center. PATIENTS: Forty nulliparous women who received injection of leuprolide acetate 4 weeks before hysteroscopy, of whom 20 were randomized to treatment with misoprostol and 20 to placebo. INTERVENTION: Sublingual misoprostol 100 mug or placebo administered 12 hours before operative hysteroscopy. MEASUREMENTS AND MAIN RESULTS: Misoprostol was associated with mild abdominal cramps in four women (20%) and vaginal bleeding in another. No side effects were reported among women in the placebo group. There was no difference in baseline diameter of the cervical opening between the misoprostol group (4.0 +/- 0.1 mm) and the control group (4.2 +/- 0.2 mm). Time to dilate cervix up to 9 mm was also not significantly different (misoprostol 48.4 +/- 9.2 sec, placebo 37.7 +/- 4.1 sec). We found no difference in degree of difficulty dilating the cervix between groups. Cervical tear occurred in one patient in the misoprostol group. CONCLUSION: Sublingual misoprostol 100 mug does not facilitate cervical dilatation before hysteroscopy. This may be related to leuprolide's hypoestrogenic effect.