Vaginal misoprostol applied 4 h before operative hysteroscopy at three different doses did not reduce the need for cervical dilatation, did not facilitate hysteroscopic surgery, and increased pre-operative pain.
(Y;autosome) translocations have been reported in association with male infertility. Different mechanisms have been suggested to explain the male infertility, such as deletion of the azoospermic factor (AZF) on the long arm of the Y chromosome, or meiosis impairment. We describe a new case with a de novo unbalanced translocation t(Y;22) and discuss the genotype-phenotype correlation. A 36 year old male with azoospermia was found to have a mosaic 45,X/46,X, + mar karyotype. Fluorescence in situ hybridization (FISH) showed the presence of a derivative Y chromosome containing the short arm, the centromere and a small proximal part of the long-arm euchromatin of the Y chromosome and the long arm of chromosome 22. The unstable small marker chromosome included the short arm and the centromere of chromosome 22. This unbalanced translocation t(Y;22)(q11.2;q11.1) generated the loss of the long arm of the Y chromosome involving a large part of AZFb, AZFc and Yq heterochromatin regions. Testicular tissue analyses showed sperm in the wet preparation. Our case shows the importance of documenting (Y;autosome) translocations with molecular and testicular tissue analyses.
Prader-Willi syndrome (PWS) results from either paternal deletion of 15q11-q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS.
The proportion of abnormal oocytes or embryos per recovered oocyte in in-vitro fertilization (IVF) cycles had no influence on the occurrence of pregnancy following the transfer of normal embryo(s) derived from oocytes capable of fertilization. There were more implantations per transferred embryo in stimulated IVF cycles using long-acting buserelin (30.0%) compared with short-acting decapeptyl (17.3%) or no gonadotrophin-releasing hormone agonist (GnRHa, 15.2%) treatments. However, the chances of implantation per embryo transferred being in excess of one in patients who became pregnant tended to be higher in non-GnRHa (23.5%) compared to buserelin- (16.4%) or decapeptyl- (13.3%) treated IVF cycles. Moreover, frozen--thawed embryos had a higher implantation rate (P less than 0.05) when originating from IVF cycles without GnRHa (11.7%) compared to GnRHa-treated cycles (buserelin, 4.3%; decapeptyl, 5.9%). It can be concluded that GnRHa associated with gonadotrophins produced embryos of a poorer aptitude for development than stimulation treatments without GnRHa. The clinical efficacy of GnRHa in IVF--ET cycles could be the result of an improved uterine receptivity to the transferred embryos.
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