Breakpoint of a Y chromosome pericentric inversion in the DAZ gene area. A case report.

BACKGROUND: The presence of a spermatogenesis locus (gene or gene complex) in the euchromatic region of the long arm of the Y chromosome (Yq11), defined as azoospermia factor on the basis of gross structural rearrangement, was detected. The gene family responsible for different spermatogenetic defects is "deleted in azoospermia" (DAZ). CASE: A 34-year-old man had oligozoospermia, and a cytogenetic analysis carried out on peripheral lymphocytes with G banding revealed a 46,X, inv(Y)(p11q11)karyotype. The relation between the chromosomal breakpoint and the DAZ gene was more precisely defined by a fluorescent in situ hybridization technique. We revealed two signals for the DAZ gene, weaker than normal, one on the short arm and the other on the long arm of the Y chromosome, indicating that the breakpoint was located at the DAZ gene level. CONCLUSION: This is the first report documenting a chromosomal pericentric inversion with disruption in the DAZ gene area. We hope to obtain information on whether the disruption affects a functional zone of the gene and correlates with oligospermia at the chromosomal level.

Ovarian stimulation in a woman with premature ovarian failure and X-autosome translocation. A case report.

BACKGROUND: There are only a few reports on ovulation induction in women with premature ovarian failure resulting from an X chromosome abnormality. Up to now, there have been no publications on ovulation stimulation in a patient with an X-autosome translocation. CASE: A healthy, 29-year-old woman had premature ovarian failure (POF) but no other discernible pathologic clinical features. Laboratory tests prior to initiating a stimulation cycle revealed a 46,XX t(X;16) karyotype. Genetic counseling was proposed, and the risk of X chromosome abnormality was discussed. The couple decided to undergo ovulation induction. For treatment of infertility, clomiphene citrate had been administered in the past. Because those treatments were not successful, GnRH-a and follicle stimulating hormone treatment was recommended. The first treatment cycle was successful in inducing ovulation, but on the 15th day after human chorionic gonadotropin administration, menstruation occurred. The couple refused a second stimulation, and menstruation occurred 32 days after the first. The patient then became amenorrheic again. CONCLUSION: At least some hope can be offered to infertile women with hypergonadotropinism and X-autosomal translocation, although it is impossible to determine whether ovulation induction will result in pregnancy. New treatments can be anticipated for women with POF and X chromosome aberrations who have similar hormonal environments.

Intracytoplasmic sperm injection in infertile patients with structural cytogenetic abnormalities.

OBJECTIVE: To investigate the incidence of chromosomal aberration in men and women in an intracytoplasmic sperm injection (ICSI) program for severe male infertility as well as in conceptuses resulting from these ICSI treatments. STUDY DESIGN: We evaluated chromosomal analysis, outcome of ICSI and the conceptuses resulting from treatment of 301 couples included in ICSI program. RESULTS: Cytogenetic evaluation demonstrated structural anomalies in 11 cases (3.6%), 9 men (2.9%) and 2 women (0.7%), all consisting of balanced chromosomal translocations. There were no significant differences in the rates of developed embryos (44.2% versus 40.1%) in couples with abnormal (n = 11) and normal (n = 290) chromosomal analysis. Embryo transfer led to a similar number of newborns (15.3% versus 12.4%) per transferred embryos, without any correlation with parents' chromosomes. In 63 fetuses conceived from couples without chromosomal abnormalities, we observed one fetus affected by Patau syndrome (47,XY, + 13). Two of four (50%) fetuses conceived by couples with male balanced chromosomal defects were carriers of the chromosomal translocation inherited from their fathers. The two fetuses resulted in the birth of two infants observed to be normal at the 12-month pediatric follow-up. CONCLUSION: The offer of this treatment to infertile couples with male factor infertility should be accompanied by proper information regarding the genetic risks of this treatment. ICSI remains a good therapeutic option for infertile patients, but prenatal diagnosis is mandatory because of the potential increased aneusomic risk for the offspring conceived.

Techniques of sperm selection and in vitro fertilization results.

This study was performed to evaluate the effectiveness of four techniques for sperm selection in vitro fertilization (IVF) programme. Swim Up, Percoll, Sedimentation and Mini-Percoll were evaluated in 440 IVF cycles. The various methods were performed according to the motility and the number of spermatozoa, and the degree of cellularity of the sample; Swim Up and Percoll were used when sperm count was superior 20 million/ml, Sedimentation and Mini-Percoll when the sperm count was less than 20 million/ml. There was no difference in fertilization rate and in the number of replaced embryos per transfer with Swim Up compared to Percoll procedure; the Sedimentation technique improved fertilization (p < 0.05) and embryos rate (p < 0.001) compared to Mini-Percoll sperm preparation. There was no difference in pregnancy rate with Swim Up compared to Percoll and Sedimentation compared to Mini-Percoll procedure. We conclude that with advanced reproductive procedures where serious sperm disorders exist, the choose of the tecnique of sperm selection, most appropriate, according with the motility and the number of spermatozoa, the debrits and nonspermatic cells of the semen, might produce a suspension of spermatozoa with high fertilization potential.

Incidence and outcome of multiple pregnancy after in vitro fertilization.

The aim of this study was to analyse the experience of IVF multiple pregnancies, in relation to the maternal morbidity and the neonatal morbidity and mortality. We considered 48 multiple pregnancies: 36 twins (group A), 8 triplets (group B), 2 quadruplets (group C), and 2 quintuplets (group D). The mean maternal age was 29.72 years and the mean gestational age was 36.83 weeks. Of the 36 patients with two babies, 20 (55.60%) had cesarean section, whereas 12 were delivered vaginally. All the triplets, quadruplets and quintuplets were delivered abdominally. Twenty-three cervical cerclage were placed. In group A 7 patients had premature rupture of the membranes (PROM), 2 had pregnancy-induced hypertension (PIH) and 14 had premature labour. In group B 4 patients had premature labour, 3 hadPROM and 2 had PIH. In group C one patient had premature labour. In group D 2 patients had premature labour and one also PIH. Multiple pregnancies lead to a high incidence of antenatal complications and extensive neonatal morbidity which translate into prolonged and expensive hospitalization for the neonates.