STUDY OBJECTIVE: This study aimed to evaluate the reproductive potential of patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) who were candidates for uterus transplantation (UTx) before inclusion in the experimental trial, and to summarize the existing experience with posttransplantation embryo transfers in functionally successful cases. DESIGN AND SETTING: A prospective study at a tertiary medical center. PARTICIPANTS: Ten pre-UTx women with MRKHS and 7 successful UTx cases. INTERVENTIONS AND MAIN OUTCOME MEASURES: Ovarian stimulations, frozen embryo collection, embryo transfers, and incidence of pregnancy in MRKHS women in the pre- and posttransplantation periods. RESULTS: The average number of ovarian stimulations to collect the required frozen embryos was 1.9 (1-3). On average, the number of aspirated oocytes was 16.4 (7-38), 12.6 (5-26) oocytes were fertilized, and 7.0 (1-18) embryos were cryopreserved per cycle. To date, the average number of embryo transfers per recipient was 4.9 (3-8), and the embryo transfer/pregnancy rate was 8.8% (3 of 34). Three pregnancies have been achieved to date, including a missed abortion in the 8th week, a birth in the 35th week, and an ongoing pregnancy in the 30th week. CONCLUSIONS: Despite the small number of UTx cases, our data indicated that women with MRKHS showed a good response to ovarian stimulation and blastocyst formation. Although the procedures for fertilization, cryopreservation, and transfer of the embryos were standardized, the success rate per embryo transfer achieved in the study group has been low to date.
- MeSH
- dospělí MeSH
- ductus Mülleri abnormality chirurgie MeSH
- indukce ovulace statistika a číselné údaje MeSH
- lidé MeSH
- odběr oocytu statistika a číselné údaje MeSH
- poruchy sexuálního vývoje s karyotypem 46, XX chirurgie MeSH
- přenos embrya statistika a číselné údaje MeSH
- prospektivní studie MeSH
- těhotenství MeSH
- úhrn těhotenství na počet žen v reprodukčním věku * MeSH
- uterus transplantace MeSH
- vrozené vady chirurgie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Publikační typ
- abstrakt z konference MeSH
Úvod, cíle: Poruchy ejakulace jsou po míšním poranění velmi časté. U nemocných s přáním vlastního potomka je většinou nutný asistovaný odběr spermií. Penilní vibrostimulace (PVS) je neinvazivní metoda k získání ejakulátu u pacientů s lézí nad úrovní T10. Cílem práce je zhodnocení efektivity a bezpečnosti PVS, vyhodnocení kvality a dalšího využití ejakulátu. Metodika: Od 2010 do 2014 jsme provedli PVS u 20 pacientů. Poranění krční (C) míchy bylo u 13 pacientů, hrudní (T) míchy u sedmi pacientů. Průměrný věk byl 30,8 let. Průměrná doba od úrazu do PVS byla 64 měsíců. První PVS mělo sedm nemocných déle než 3,5 roku a 13 do 3,5 roku od úrazu. K PVS jsme užili přístroj FERTI CARE Multicept. Výsledky: Ejakulace jsme dosáhli u 11 pacientů (55 %), z toho devět mělo poranění C míchy a dva T míchy. U nemocných se začátkem PVS do 3,5 roku od poranění byla úspěšnost 77 % a nad 3,5 roku 14 %, p = 0,027. Při srovnání ejakulátu z druhé PVS došlo ke zvýšení celkového počtu spermií (p = 0,03), koncentrace spermií (p = 0,025) a počtu progresivně pohyblivých spermií (p = 0,027) oproti první PVS. Získaný ejakulát je v 72 % pouze kryoprezervován k pozdějšímu využití. U dvou pacientů byl ejakulát použit k fertilizaci. Jeden nemocný měl azoospermii. Autonomní dysreflexie se vyskytla v průběhu PVS u sedmi pacientů, příznaky odezněly do 3 min. Závěr: PVS je bezpečná metoda asistovaného odběru ejakulátu. Při opakování PVS jsme zjistili zlepšení kvality ejakulátu. U dvou pacientů byl ejakulát úspěšně použit k fertilizaci.
Objectives: Following spinal cord injury (SCI), ejaculatory dysfunctions are frequent. In men who wish to father children, assisted sperm retrieval is often necessary. Penile vibratory stimulation (PVS) is a non-invasive method for sperm retrieval in patients with a lesion above T10. The aim of our research was to evaluate the effectiveness and safety of PVS, semen quality and further utilization of the ejaculate. Methods: Between 2010 and 2014, we performed PVS in 20 patients. An injury of the cervical (C) and thoracic (T) spinal cord was present in 13 and seven patients, respectively. The mean age of patients was 30.8 years. The mean time from the injury to PVS was 64 months. Seven patients had the first PVS more than 3.5 years after the injury and 13 patients less than 3.5 years. FERTI CARE Multicept was used for PVS. Results: Ejaculation was achieved in 11 patients (55%) – in nine with C and in two with T SCI. Success rate of PVS in patients less than 3.5 years after the injury was 77%, compared to 14% in patients more than 3.5 years after the injury, p = 0.027. Total sperm count (p = 0.03), sperm concentration (p = 0.025) and the number of sperm with progressive motility (p = 0.027) increased in the semen from the second PVS. Obtained ejaculate is mostly (72%) cryopreserved only for further use. The ejaculate was used for fertilisation in two patients. One patient had azoospermia. Autonomic dysreflexia during PVS occurred in seven patients, symptoms resolved within 3 mins. Conclusion: PVS is a safe method for sperm retrieval. Semen quality improved with repeated PVS. The ejaculate was successfully used for fertilisation in two patients. Key words: penile vibratory stimulation – spinal cord injury – anejaculation The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.
- MeSH
- asistovaná reprodukce MeSH
- dospělí MeSH
- ejakulace * MeSH
- erekce penisu MeSH
- erektilní dysfunkce etiologie prevence a kontrola MeSH
- fyzikální stimulace * metody přístrojové vybavení MeSH
- kryoprezervace MeSH
- lidé MeSH
- mladý dospělý MeSH
- obnova funkce MeSH
- poranění míchy * komplikace MeSH
- poranění páteře komplikace MeSH
- výsledek terapie MeSH
- zachování plodnosti metody MeSH
- zdravotnické prostředky MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- Publikační typ
- abstrakt z konference MeSH
OBJECTIVES: In about 50% of male infertility the underlying pathogenesis remains unknown. A recent Japanese study provided evidence that the rs6836703: G>A single-nucleotide polymorphism (SNP) from the ADP-ribosyltransferase 3 (ART3) gene is significantly associated with non-obstructive azoospermia. However, the functional significance of this association is unknown and replication studies in unrelated populations are thus necessary. DESIGN: In this study, 257 fertile Czech controls of proven paternity and 98 sub-/infertile patients selected according to stringent exclusion / inclusion criteria were genotyped by High Resolution Melting (HRM) of small amplicons. SETTING: This study was performed at University Hospital Motol - Laboratory of reproductive genetics using routinely analyzed cases. RESULTS: Significant differences in allele distribution between fertile and sub-/infertile men were found (OR=1.78, 95% CI: 1.17-2.70; p=0.007). Following sub-stratification of cases according to their sperm counts we found that observed differences in allele distributions were increased in oligozoospermic men with sperm counts of <15 million sperm/mL (OR=1.98, 95% CI: 1.28-3.07; p=0.002). This difference was also reflected in genotype distributions between fertile and sub-/infertile men (p=0.008), and fertile versus oligozoospermic men (p=0.004). CONCLUSIONS: Our study serves as a first replication of the original Japanese report and opens new avenues of research. Compared to the Japanese patient cohort, we provided evidence that the analyzed ART3 variant is associated with quantitative impairment of spermatogenesis.
- MeSH
- ADP-ribosatransferasy * MeSH
- genotyp MeSH
- lidé MeSH
- mužská infertilita MeSH
- počet spermií * MeSH
- spermie MeSH
- studie případů a kontrol MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Li-Fraumeni syndrome is a rare autosomal dominant cancer predisposition syndrome characterized by a broad spectrum of tumors. The disorder is caused by germline mutations in the TP53 gene. We studied chromosomes in the sperm of two male carriers of TP53 mutations. We observed increased sperm aneuploidy, mainly concerning the gonosomes when compared to four normal male controls. This observation may correlate with the involvement of the p53 protein in spermatogenesis, with its role in aneuploidy in cancer, and with the occurrence of two cases of Turner syndrome in families with germline TP53 mutations reported in the literature.
- MeSH
- aneuploidie MeSH
- dospělí MeSH
- heterozygot MeSH
- hybridizace in situ MeSH
- lidé MeSH
- Liův-Fraumeniho syndrom genetika MeSH
- nádorový supresorový protein p53 genetika MeSH
- počet spermií MeSH
- spermie MeSH
- zárodečné mutace MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
The verified and tested system is based on specialized genetic counselling to detect genetic and environmental risk factors at least in the last 3 generations and to indicate further laboratory and clinical examinations. Cytogenetic examination is indicated for the detection of heterochromosomal and autosomal aberrations. In the case of unclear severe oligo- or azoospermia, FISH analysis of ejaculated sperm is recommended together with classical and CASA sperm analysis, accompanied by Y chromosome microdeletion analysis of AZF a, b and c, including the recently introduced Y subdeletion detection within AZFc. The detection of most frequent 38 CFTR gene mutations and variants IVS8(TG)/IVS8(Tn) and 1540 A/G are performed in men with the nonobstructive azoospermia and severe oligospermia. The androgene receptor is analysed to elucidate disorders of sex development, as well as phenotypically unapparent males with XXY (Klinefelter) syndrome. The detection of thrombophilic mutations is important to improve the strategy of early prenatal care, especially if female partner is carrying alleles increasing thrombophilic disposition in developing embryo/fetus, that might endanger reproduction or their prenatal developement. This combined approach of genetic counselling together with genetic testing will allow the precise contribution of genetic factors causing male infertility.
Aneuploidies in embryos conceived by assisted reproduction techniques can originate before meiosis, during meiosis and after fertilization. To evaluate the risk of aneuploidy from the maternal meiosis, it is possible to analyze the first polar body (PB1) and second polar body (PB2). The paternal pre-meiotic and meiotic error rate can be evaluated by sperm analysis. Postfertilization errors can only be analyzed by embryo biopsy. Methods: Molecular cytogenetic methods for analysis of gametes are based on fluorescence in situ hybridization (FISH) and fluorescence microscopy. New options include use of peptide nucleic acid probes (PNA-FISH) and primed in situ synthesis (PRINS) for detection of chromosome specific sequences. The standard 2-dimensional image analysis can be complemented by 3- dimensional analysis using Z-stacking and deconvolution (3D-FISH) for more precise detection of FISH signals in interphase nuclei that are not flat after fixation (sperm, cells from blastocysts). Results: We have tested use of FISH, PNA-FISH, PRINS and 3D-FISH for detection of aneuploidy in sperm as well as FISH and PNA-FISH for analysis of first and second polar bodies and oocytes. We have also tested FISH, PNA-FISH and 3D-FISH for analysis of blastomeres as well as FISH and 3D-FISH for reanalysis of embryos in blastocyst stage after abnormal results of preimplantation screening of aneuploidy. Conclusions: For optimal evaluation of risk of aneuploidy after conception it is possible to combine the prefertilization sperm analysis with polar body and blastomere biopsy after fertilization. This complex evaluation allows optimal choice of reproductive medicine methods and early and efficient prevention of embryonal/fetal aneuploidies.
