BACKGROUND: The objective of this study was to estimate the frequency of Y chromosome microdeletions in the Slovenian population of infertile men and to analyse the consequences of mutation in respect to clinical severity and prognosis. METHODS: In a controlled clinical study at the university-based medical genetics service and infertility clinic, 226 infertile men undergoing ICSI were tested. The main outcome measures included polymerase chain reaction amplification of 16 genes and gene families and 42 sequence-tagged sites in the non-recombining region of the Y chromosome, semen, testicular volume and testicular histological analysis, serum FSH concentrations, fertilization and respective pregnancy rates. RESULTS: The incidence of deletions was 4.4%: 8.6% in men with azoospermia and 1.5% in men with oligoasthenoteratozoospermia. Isolated gene deletions were not identified. No statistically significant differences in clinical outcome measures were found in patients with mutations versus patients without mutations. High fertilization (49%) and pregnancy (43%) rates with sperm of patients with Y chromosome deletions were obtained. CONCLUSIONS: Testing for gene-specific microdeletions does not contribute significantly to the sensitivity of microdeletion test. Fertilization and pregnancy rates obtained using sperm of patients with Y chromosome deletions were comparable with those achieved in conventional IVF.
BACKGROUND: The objective of this study was to estimate the frequency of Y chromosome microdeletions in the Slovenian population of infertile men and to analyse the consequences of mutation in respect to clinical severity and prognosis. METHODS: In a controlled clinical study at the university-based medical genetics service and infertility clinic, 226 infertile men undergoing ICSI were tested. The main outcome measures included polymerase chain reaction amplification of 16 genes and gene families and 42 sequence-tagged sites in the non-recombining region of the Y chromosome, semen, testicular volume and testicular histological analysis, serum FSH concentrations, fertilization and respective pregnancy rates. RESULTS: The incidence of deletions was 4.4%: 8.6% in men with azoospermia and 1.5% in men with oligoasthenoteratozoospermia. Isolated gene deletions were not identified. No statistically significant differences in clinical outcome measures were found in patients with mutations versus patients without mutations. High fertilization (49%) and pregnancy (43%) rates with sperm of patients with Y chromosome deletions were obtained. CONCLUSIONS: Testing for gene-specific microdeletions does not contribute significantly to the sensitivity of microdeletion test. Fertilization and pregnancy rates obtained using sperm of patients with Y chromosome deletions were comparable with those achieved in conventional IVF.
Authors: F Sciarra; M Pelloni; F Faja; F Pallotti; G Martino; A F Radicioni; A Lenzi; F Lombardo; D Paoli Journal: J Endocrinol Invest Date: 2018-11-29 Impact factor: 4.256
Authors: Sean E Hofherr; Anne E Wiktor; Benjamin R Kipp; D Brian Dawson; Daniel L Van Dyke Journal: J Assist Reprod Genet Date: 2011-09-13 Impact factor: 3.412
Authors: Christian J Gruber; Markus Hengstschläger; Friedrich Wieser; Doris M Gruber; Katharina Walch; Kathrin Ferlitsch; Isabel M Gruber; Angela Maar; Eva Marton; Gerhard Bernaschek; Johannes C Huber Journal: Wien Klin Wochenschr Date: 2003-12-15 Impact factor: 1.704
Authors: Christian J Gruber; Markus Hengstschläger; Heinz Leipold; Isabel M Gruber; Kathrin Ferlitsch; Doris M Gruber; Johannes C Huber Journal: Wien Klin Wochenschr Date: 2003-12-15 Impact factor: 1.704