Genetic aspects of male infertility and the possible risks of new assisted reproduction and their influence on the development of zygotes and children born after intracytoplasmic sperm injection (ICSI) need further research. These patients have an increased risk of diploidy, and disomies are frequent in their spermatozoa. Meiotic disorders are more common in testicular biopsies of patients with severe oligoasthenozoospermia. For these reasons, a detailed andrological study is absolutely mandatory before accepting a couple with these characteristics into an IVF-ICSI programme. When an andrological patient has plasma FSH values >10 IU/l and/or very low total motile sperm count <1 x 10(6), despite a normal karyotype, they clearly need a testicular biopsy and a meiotic study in order to rule out meiotic arrest or synaptic anomalies. Another important aspect to be considered is the possible benefit of applying preimplantation genetic diagnosis in these cases because they normally have a high percentage of chromosomally abnormal embryos, although in the present study this was not evident. All studies agree on the necessity of conducting follow-up studies in the population of children born after IVF-ICSI. In this way, it will be possible to find out if these infertile patients and their offspring have a higher risk of suffering epigenetic errors and imprinting disorders.

Genetic aspects of male infertility and the possible risks of new ART and their influence on the development of zygotes and children born after ICSI, need further research. These patients have an increased risk of diploidy and disomies are frequent in their spermatozoa. Meiotic disorders are more common in testicular biopsies of patients with severe oligoasthenozoospermia. For these reasons, a deep andrological study is absolutely mandatory before accepting a couple of these characteristics in an IVF/ICSI programme. We think that when an andrological patient has plasmatic FSH values > 10IU/L and/or very low total motile sperm count < 1x106 they, despite a normal karyotype, clearly need a testicular biopsy and a meiotic study in order to rule out a meiotic arrest or synaptic anomalies. Another important aspect to be considered is the possible benefit of applying PGD techniques in these cases because they normally have a high percentage of chromosomically abnormal embryos. All the studies agree on the necessity of conducting follow-up studies in the population of children born after IVF/ICSI. In this way it will be possible to find out if these infertile patients and their offspring have higher risk of suffering epigenetic errors and imprinting disorders.

Indications and candidates for preimplantation genetic diagnosis (PGD) have increased in recent years. This study evaluates whether IVF-intracytoplasmic sperm injection (ICSI) results could be improved by selecting embryos through PGD-AS (aneuploidy screening) in couples in whom the male partner presents meiotic abnormalities. Two hundred and fifty-six embryos were biopsied and 183 were suitable for analysis (73.2%). Ninety-two embryos showed normal chromosomal analysis (50.3% of the analysed embryos and 57.5% of the diagnosed embryos). Pregnancy, abortion and implantation rates were compared with 66 IVF-ICSI cycles performed in 44 patients with meiotic abnormalities without PGD (control group). No statistically significant differences in the pregnancy rate (52 versus 43.9%), implantation rate (32.1 versus 23.5%) and miscarriage rate (15.4 versus 10.3%) were observed between the groups. Although the embryos obtained from men with meiotic abnormalities showed a high frequency of chromosome abnormalities, no improvements in pregnancy and implantation rates were obtained after PGD-AS in the series analysed.

Objective: The aim of the study was to evaluate the intracytoplasmic sperm injection outcome in a selected group of patients with oligoasthenozoospermia in relation to the results obtained from their meiotic analysis.Design: Retrospective clinical study.Setting: An assisted reproduction service and a university department.Patient(s): One hundred thirty-seven men with oligoasthenozoospermia grouped in relation to their meiotic pattern.Intervention(s): Two hundred twenty-four intracytoplasmic sperm injection cycles from 137 men with oligoasthenozoospermia in whom diagnostic meiotic analyses had been performed.Main Outcome Measure(s): Fertilization, pregnancy, implantation, and abortion rates.Result(s): There were no significant statistical differences in fertilization, pregnancy, implantation, or abortion rates among the three groups studied.Conclusion(s): No statistically significant differences in fertilization, pregnancy, implantation, or abortion rates were found inpatients with oligoasthenozoospermia in relation to the meiotic pattern. (C) 2003 by American Society for Reproductive Medicine.

Se presenta un embarazo conseguido tras microinyección intracitoplasmática de espermatozoides del eyaculado de un paciente con síndrome de Klinefelter mosaico. El mosaicismo observado en células germinales premeióticas estaba invertido con respecto al observado en sangre periférica. A partir de los estudios meióticos y de hibridación in situ (FISH) en espermatozoides, se estimó que el riesgo genético del paciente para la transmisión de gonosomopatías a la descendencia era equivalente a la de la población control, aconsejándose un ciclo de fecundación in vitro con microinyección intracitoplasmática espermática y posterior diagnóstico prenatal en caso de gestación

Human male infertility is often related to chromosome abnormalities. In chromosomally normal infertile males, the rates of chromosome 21 and sex chromosome disomy in spermatozoa are increased. Higher incidences of trisomy 21 (seldom of paternal origin) and sex chromosome aneuploidy are also found. XXY and XYY patients produce increased numbers of XY, XX and YY spermatozoa, indicating an increased risk of production of XXY, XYY and XXX individuals. Since XXYs can reproduce using intracytoplasmic sperm injection (ICSI), this could explain the slight increase of sex chromosome anomalies in ICSI series. Carriers of structural reorganizations produce unbalanced spermatozoa, and risk having children with duplications and/or deficiencies. In some cases, this risk is considerably lower or higher than average. These patients also show increased diploidy, and a higher risk of producing diandric triploids. Meiotic disorders are frequent in infertile males, and increase with severe oligoasthenozoospemia (OA) and/or high follicle stimulating hormone (FSH) concentrations. These patients produce spermatozoa with autosomal and sex chromosome disomies, and diploid spermatozoa. Their contribution to recurrent abortion depends on the production of trisomies, monosomies and of triploids. The most frequent sperm chromosome anomaly in infertile males is diploidy, originated by either meiotic mutations or by a compromised testicular environment.

Purpose: Based on data from the literature, to detect thepossible presence of an increased frequency of meiotic anomaliesin oligoasthenozoospermic (OA) patients preselectedfor intracytoplasmic sperm injection.

a large follicle and one of those was a dizygotic twin pregnancy suggesting implantation of at least one embryo derived from a small follicle.Implantation rate for embryos derived from large or small follicles was 17.2% (maximum) and 14% (minimum) respectively.Conclusions: The behaviour of oocytes from very small follicles compares well with that of oocytes from large follicles.We suggest that all follicles should be aspirated during oocyte retrieval in order to increase the pool of embryos available for transfer.

Objective: To evaluate the frequency of disomy (for chromosomes X, Y, and 18) and of diploidy in the spermatozoa of infertile men undergoing intracytoplasmic sperm injection (ICSI).Design: Prospective analysis of sperm nuclei by fluorescence in situ hybridization (FISH).Setting: University-affiliated IVF-ICSI program.Patient(s): Semen samples from 19 patients participating in an IVF-ICSI program.Intervention(s): Semen samples were analyzed and prepared for FISH.Main Outcome Measure(s): Semen parameters were evaluated. The frequency of disomy for chromosomes X, Y, and 18 and the frequency of diploidy were analyzed by FISH.Result(s): A total of 9,373 spermatozoa from 19 infertile patients were analyzed and compared with spermatozoa from a control group of 5 healthy men. No differences in the frequency of disomy 18 were found, but statistically significant differences in the incidence of sex chromosome disomy and of diploidy were observed.Conclusion(s): The study of sperm nuclei by FISH is useful to improve genetic counseling in infertile patients selected for ICSI.

The incidence of meiotic abnormalities and their relationship with different spermatogenic parameters was assessed in 103 male patients with presumably idiopathic severe oligoasthenozoospermia (motile sperm concentration < or = 1.5 x 10(6)/ml). Meiosis on testicular biopsies was independently evaluated by two observers. Meiotic patterns included normal meiosis and two meiotic abnormalities, i.e. severe arrest and synaptic anomalies. A normal pattern was found in 64 (62.1%), severe arrest in 21 (20.4%) and synaptic anomalies in 18 (17.5%). The overall rate of meiotic abnormalities was 37.9%. Most (66.7%) meiotic abnormalities occurred in patients with a sperm concentration < or = 1 x 10(6)/ml. In this group, total meiotic abnormalities were found in 57.8% of the patients; of these, 26.7% had synaptic anomalies. When the sperm concentration was < or = 0.5 x 10(6)/ml, synaptic anomalies were detected in 40% of the patients. In patients with increased follicle stimulating hormone (FSH) concentrations, total meiotic abnormalities occurred in 54.8% (synaptic anomalies in 22.6%). There were statistically significant differences among the three meiotic patterns in relation to sperm concentration (P < 0.001) and serum FSH concentration (P < 0.05). In the multivariate analysis, sperm concentration < or = 1 x 10(6)/ml and/or FSH concentration > 10 IU/l were the only predictors of meiotic abnormalities.

ABSTRACT. A group of 11 pre‐pubertal growth hormone deficient patients were treated with human growth hormone over a period of 4 years. In 6 of the patients the dosage was 4 IU 3 times a week and in 5, 8 IU 3 times a week. Changes in height demonstrated that the “catch up” was significantly greater and of longer duration in the second group. In spite of a more rapid increase of bone age in the second group, the prognosis of final height had improved significantly at the end of the study period. A comparative study of the plasma concentrations of T4, T SH, gonadotrophins and steroids, to see if the greater velocity of bone maturity in the second group could be due to contamination of the preparation by other could be due to contamination of the preparation by other hypophysary hormones, did not demonstrate significant differences between the groups.

28 GHD patients aged 3-10 yrs. were treated with hGH (Roos-Kabi) during 1-4yrs. without pubertal interference. Dosages were 2mg in D1(N=19) and 4mg in D2(N=9), 3 times/week.11 patients received treatment during 4 full yrs.:6 in D1(rD1) and 5 in D2(rD2).The mean Chronological Age(CA),Bone Age(BA),Height(Ht)SDS*and BA.SDS were comparable in both groups at the onset of treatment. 1.-The evolution of height showed that in D2/rD2 the increase in SDS was significantly higher than in D1/rD1 through the treatment.The catch-up period was 3 yrs. in D1/rD1 and it was still present in D2/rD2 in the 4th yr. 2.-In D1/rD1 the BA increased parallely to the CA,but is the D2/rD2 there was a continuous catch-up of BA with BA>CA in the 4th yr. 3.-The relationship ΔHt/ΔBA was :Whether this expected early bone fusion using the D2 dosage is due to the hGH itself or to a contamination by TSH/Gonadotrophins is now being investigated.*SDS = Standard Deviation Score