1,721,204 research outputs found
Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities
No full textThe most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter's syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidies in these two conditions. Non mosaic 47,XXY Klinefelter patients (12 subjects) show a significantly lower percentage of normal Y-bearing sperm and slightly higher percentage of normal X-bearing sperm. Consistent with the hypothesis that 47,XXY germ cells may undergo and complete meiosis, aneuploidy rate for XX- and XY-disomies is also increased with respect to controls, whereas the percentage of YY-disomies is normal. Aneuploidy rates in men with mosaic 47,XXY/46,XY (11 subjects) are lower than those observed in men with non-mosaic Klinefelter's syndrome, and only the frequency of XY-disomic sperm is significantly higher with respect to controls. Although the great majority of children born by intracytoplasmic sperm injection from Klinefelter subjects are chromosomally normal, the risk of producing offspring with chromosome aneuploidies is significant. Men with Y chromosome microdeletions (14 subjects) showed a reduction of normal Y-bearing sperm, and an increase in nullisomic and XY-disomic sperm, suggesting an instability of the deleted Y chromosome causing its loss in germ cells, and meiotic alterations leading to XY non-disjunction. Intracytoplasmic injection of sperm from Y-deleted men will therefore transmit the deletion to male children, and therefore the spermatogenic impairment, but raises also concerns of generating 45,X and 47,XXY embryos
P4 Reproductive Medicine: Prediction, Prevention, Personalization, and Participation in Infertility Care
No full textEditorial: Testicular Cancer: New Insights on the Origin, Genetics, Treatment, Fertility, General Health, Quality of Life and Sexual Function
Full text linkCorrigendum: Editorial: Testicular Cancer: New Insights on the Origin, Genetics, Treatment, Fertility, General Health, Quality of Life and Sexual Function (Frontiers in Endocrinology, (2020), 11, (41), 10.3389/fendo.2020.00041)
No full text[This corrects the article DOI: 10.3389/fendo.2020.00041.]
Evidence for stimulatory role of follicle-stimulating hormone on the spermatogonial population in adult males.
No full textObjective: To evaluate the effects of treatment with FSH on seminal indices and on the seminiferous epithelium of oligozoospermic subjects with normal FSH plasma levels. Design: Placebo-controlled, double-blind randomized study. Setting: Academic setting. Patient(s): Ninety subjects with idiopathic oligozoospermia (sperm count of < 10 x 106/mL) and normal plasma levels of FSH. Intervention(s): Three months of treatment with FSH (60 patients) or placebo (30 patients); bilateral testicular fine-needle aspiration. Main Outcome Measure(s): Seminal indices; testicular cytologic features; plasma levels of FSH, LH, and testosterone; and ultrasonographic testicular examination. Result(s): According to seminal indices, patients treated with FSH and placebo were classified as nonresponders or as responders (as determined by at least a doubling of sperm count). No placebo-treated patients responded to treatment. Among FSH-treated patients, 20 responded to hormonal treatment and 40 did not. The results of pretreatment cytologic examination of testicular specimens from patients who did not respond to FSH treatment were consistent with hypospermatogenesis associated with maturational disturbances at the spermatid level. In contrast, patients who responded to treatment with FSH had isolated hypospermatogenesis without maturational disturbances. After FSH therapy, we detected an increase of spermatogonia and spermatocyte population in both the responder and nonresponder subjects. This increase was associated with an activation of spermatogenic and spermiogenic processes and with a rise in ejaculated sperm concentration only when isolated hypospermatogenesis was present (responder patients). Conclusion(s): The findings of this study demonstrate that FSH treatment increases the spermatogonial population in men. This treatment may be appropriate for oligozoospermic subjects who have normal FSH plasma levels and a testicular evaluation characterized by hypospermatogenesis without maturational disturbances
Y chromosome microdeletions in infertile men with varicocele
No full textThe pathogenic mechanisms by which varicocele disrupt spermatogenesis are not clearly understood and it is possible that when varicocele is associated with a severe bilateral testiculopathy, other causes may represent the actual aetiological factor. Since microdeletions in the Y chromosome long arm (Yq) have become in last years a major cause of male infertility, we perform a Yq microdeletion screening in infertile men with varicocele. We selected 40 patients with severe oligozoospermia (sperm count<5x10(6)/ml, group 1) and 80 with varicocele and mild oligozoospermia (sperm count 10-20x10(6)/ml, group 2). Deletions of Yq was observed in seven out of 40 patients (17.5%) of group 1, while no deletions were found in patients of group 2, suggesting that the bilateral testicular damage observed in patients of group 1 is due to the underlying genetic anomaly, and not to varicocele itself. The finding of a genetic aetiology in infertile men with varicocele suggests that in such patients a Yq microdeletion screening should be performed, both for a proper diagnosis and to avoid unnecessary treatments that will probably not improve the sperm count
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