STUDY QUESTION: What is the impact of the EuroNet-PHL-C2 treatment for boys with classical Hodgkin lymphoma (cHL) on semen parameters? SUMMARY ANSWER: More than half of the patients (52%, n = 16/31) had oligozoospermia or azoospermia at 2 years from cHL diagnosis; particularly boys treated for advanced-stage cHL had low sperm counts and motility. WHAT IS KNOWN ALREADY: Chemotherapy and radiotherapy to the inguinal region or testes can impair spermatogenesis and result in reduced fertility. The EuroNet-PHL-C2 trial aims to minimize radiotherapy in standard childhood cHL treatment, by intensifying chemotherapy. The present study aims to assess the (gonadotoxic) impact of this treatment protocol on semen parameters and reproductive hormones in boys aged ≤18 years. STUDY DESIGN, SIZE, DURATION: This international, prospective, multi-centre cohort study was an add-on study to the randomized phase-3 EuroNet-PHL-C2 trial, where the efficacy of standard cHL treatment with OEPA-COPDAC-28 (OEPA: vincristine, etoposide, prednisone, and doxorubicin; COPDAC-28: cyclophosphamide, vincristine, prednisone, and dacarbazine) was compared to intensified OEPA-DECOPDAC-21 chemotherapy (DECOPDAC-21: COPDAC with additional doxorubicin and etoposide and 25% more cyclophosphamide). Patients were recruited between January 2017 and September 2021. PARTICIPANTS/MATERIALS, SETTING, METHODS: Eligibility criteria included male patients, diagnosed with classical HL before or at the age of 18 years, and treated according to the EuroNet-PHL-C2 protocol in any of the 18 participating sites in the Netherlands, Germany, Belgium, Czech Republic, and Austria. Sperm parameters (sperm concentration, progressive motility, sperm volume, and calculated total motile sperm count) were assessed at diagnosis and 2 years after diagnosis in (post)pubertal boys. Laboratory measurements (serum follicle-stimulating hormone (FSH) and inhibin B) were performed in samples drawn at diagnosis, during treatment (2-3 times), and at 2 years post-diagnosis, and (age-adjusted) analyses were conducted separately for pre-pubertal and (post)pubertal boys. Outcomes were compared between the treatment levels (TL1, TL2, and TL3) and consolidation treatment schemes (COPDAC-28 and DECOPDAC-21). MAIN RESULTS AND THE ROLE OF CHANCE: In total, 101 boys were included in the present analysis: 73 were (post)pubertal (median age 15.4 years, (IQR 14.4; 16.6), 10 TL1, 29 TL2, 34 TL3, 62% of TL2/3 patients received COPDAC-28) and 28 boys were pre-pubertal (median age 9.6 years (IQR 6.6; 11.4), 4 TL1, 7 TL2, 17 TL3, 38% of TL2/3 patients received COPDAC-28). The study included six boys who had received pelvic radiotherapy; none were irradiated in the inguinal or testicular area. At diagnosis, 48 (post)pubertal boys delivered semen for cryopreservation; 19 (40%) semen samples were oligospermic and 4 (8%) were azoospermic. Low sperm concentration (<15 mil/ml) appeared to be related to the HL disease itself, with a higher prevalence in boys who presented with B symptoms (76% vs 26%, aOR 2.3 (95% CI 1.0; 3.8), P = 0.001) compared to those without such symptoms. At 2 -years post-diagnosis, 31 boys provided semen samples for analysis, of whom 12 (39%) boys had oligozoospermia and 4 (13%) had azoospermia, while 22 boys (71%) had low total motile sperm counts (TMSC) (<20 mil). Specifically, the eight boys in the TL3 group treated with DECOPDAC-21 consolidation had low sperm counts and low progressive motility after 2 years (i.e. median sperm count 1.4 mil/ml (IQR <0.1; 5.3), n = 7 (88%), low sperm concentration, low median progressive motility 16.5% (IQR 0.0; 51.2), respectively). Age-adjusted serum FSH levels were significantly raised and inhibin B levels (and inhibin B:FSH ratios) were decreased during chemotherapy in (post)pubertal boys, with subsequent normalization in 80% (for FSH) and 60% (for inhibin B) of boys after 2 years. Only 4 out of the 14 (post)pubertal boys (29%) with low sperm concentrations after 2 years had elevated FSH (>7.6 IU/l), while 7 (50%) had low inhibin B levels (<100 ng/l). In pre-pubertal boys, reproductive hormones were low overall and remained relatively stable during chemotherapy. LIMITATIONS, REASONS FOR CAUTION: The present analyses included sperm and laboratory measurements up to 2 years post-diagnosis. Long-term reproductive outcomes and potential recovery of spermatogenesis remain unknown, while recovery was reported up to 5- or even 10-year post-chemotherapy in previous studies.Boys who were pre-pubertal at diagnosis were still too young and/or physically not able to deliver semen after 2 years and we could not assess a potential difference in gonadotoxicity according to pubertal state at the time of treatment. Overall, the statistical power of the analyses on sperm concentration and quality after 2 years was limited. WIDER IMPLICATIONS OF THE FINDINGS: Results of the semen analyses conducted among the 31 boys who had provided a semen sample at 2 years post-treatment were generally poor. However, additional long-term and adequately powered data are crucial to assess the potential recovery and clinical impact on fertility. The participating boys will be invited to deliver a semen sample after 5 years. Until these data become available, benefits of intensified chemotherapy in cHL treatment to reduce radiotherapy and lower risk for development of secondary tumours should be carefully weighed against potentially increased risk of other late effects, such as diminished fertility due to the increased chemotherapy burden. Boys with newly diagnosed cHL should be encouraged to deliver sperm for cryopreservation whenever possible. However, patients and clinicians should also realize that the overall state of disease and inflammatory milieu of cHL can negatively affect sperm quality and thereby reduce chance of successful fertility preservation. Furthermore, the measurement of FSH and inhibin B appears to be of low value in predicting low sperm quality at two years from cHL treatment. STUDY FUNDING/COMPETING INTEREST(S): This study was funded by the Dutch charity foundation KiKa (project 257) that funds research on all forms of childhood cancer. C.M.-K., D.K., W.H.W., D.H., MC, A.U., and A.B. were involved in the development of the EuroNet-PHL-C2 regimen. The other authors declare no potential conflict of interest. TRIAL REGISTRATION NUMBER: N/A.

• Klíčová slova
• azoospermia, childhood Hodgkin lymphoma, fertility, follicle-stimulating hormone, gonadotoxicity,
• MeSH
• analýza spermatu * MeSH
• azoospermie farmakoterapie   MeSH
• cyklofosfamid terapeutické užití   MeSH
• dakarbazin terapeutické užití   MeSH
• dítě MeSH
• doxorubicin terapeutické užití   škodlivé účinky   MeSH
• etoposid terapeutické užití   aplikace a dávkování   MeSH
• folikuly stimulující hormon krev   MeSH
• Hodgkinova nemoc * farmakoterapie   metabolismus   MeSH
• inhibiny krev   MeSH
• lidé MeSH
• mladiství MeSH
• motilita spermií účinky léků   MeSH
• oligospermie farmakoterapie   MeSH
• počet spermií MeSH
• pohlavní hormony * metabolismus   MeSH
• prednison terapeutické užití   aplikace a dávkování   MeSH
• předškolní dítě MeSH
• prospektivní studie MeSH
• protokoly protinádorové kombinované chemoterapie terapeutické užití   škodlivé účinky   MeSH
• vinkristin terapeutické užití   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• klinické zkoušky, fáze III MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• randomizované kontrolované studie MeSH
• Názvy látek
• cyklofosfamid MeSH
• dakarbazin MeSH
• doxorubicin MeSH
• etoposid MeSH
• folikuly stimulující hormon MeSH
• inhibin B MeSH Prohlížeč
• inhibiny MeSH
• pohlavní hormony * MeSH
• prednison MeSH
• vinkristin MeSH

AIM: Within the in vitro fertilization (IVF) process, to evaluate the possibility of using the state of the meiotic spindle of oocytes as an indicator of maturity in order to optimize the timing of vitrification. PATIENTS AND METHODS: In the presented report, the cause of couple infertility was a combination of a 38-year-old female and 43-year-old male with azoospermia, which was an indication for oocyte vitrification. Oocyte polar bodies and optically birefringent meiotic spindles were visualized by polarized light microscopy and their states and relative positions were used as indicators of oocyte maturation, i.e. readiness for vitrification. Oocytes which had an angle between the polar body and meiotic spindle a ≤ 30° or had a poorly visible meiotic spindle were vitrified 4 hours post-meiotic spindle evaluation (8 hours after ovum pick-up). RESULTS: After thawing, oocytes were fully maturated and prepared for intracytoplasmic sperm injection (ICSI). Following treatment with tamoxifen, vital sperm were retrieved from the patient's partner, the oocytes were thawed and fertilized with the obtained sperm, with subsequent embryo transfer and delivery of a healthy baby at term. CONCLUSION: The meiotic spindle can be used as an oocyte maturation pointer in older women. After thawing, the oocytes were fully matured and ready for fertilization by ICSI.

• Klíčová slova
• IVF, diabetes therapy in pregnancy, meiotic spindle, oocyte, polar body, pregnancy,
• MeSH
• aparát dělícího vřeténka * fyziologie   MeSH
• azoospermie terapie   MeSH
• dospělí MeSH
• fertilizace in vitro metody   MeSH
• intracytoplazmatické injekce spermie * metody   MeSH
• kryoprezervace * metody   MeSH
• lidé MeSH
• oocyty * fyziologie   MeSH
• těhotenství MeSH
• vitrifikace * MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH

Male infertility is a global public health concern. Teratozoospermia is a qualitative anomaly of spermatozoa morphology, contributing significantly to male infertility, whereas azoospermia is the complete absence of spermatozoa in the ejaculate. Thus, there is a serious need for unveiling the common origin and/or connection between both of these diseases, if any. This study aims to identify common potential biomarker genes of these two diseases via an in silico approach using a meta-analysis of microarray data. In this study, a differential expression analysis of genes was performed on four publicly available RNA microarray datasets, two each from teratozoospermia (GSE6872 and GSE6967) and azoospermia (GSE145467 and GSE25518). From the analysis, 118 DEGs were found to be common to teratozoospermia and azoospermia, and, interestingly, sperm autoantigenic protein 17 (SPA17) was found to possess the highest fold change value among all the DEGs (9.471), while coiled-coil domain-containing 90B (CCDC90B) and coiled-coil domain-containing 91 (CCDC91) genes were found to be common among three of analyses, i.e., Network Analyst, ExAtlas, and GEO2R. This observation indicates that SPA17, CCDC90B, and CCDC91 genes might have significant roles to play as potential biomarkers for teratozoospermia and azoospermia. Thus, our study opens a new window of research in this area and can provide an important theoretical basis for the diagnosis and treatment of both these diseases.

• Klíčová slova
• CCDC90B, CCDC91, SPA17, azoospermia, biomarker genes, male infertility, teratozoospermia,
• MeSH
• azoospermie * diagnóza   genetika   MeSH
• biologické markery MeSH
• lidé MeSH
• mužská infertilita * genetika   MeSH
• RNA MeSH
• sperma metabolismus   MeSH
• teratozoospermie * genetika   metabolismus   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• metaanalýza MeSH
• Názvy látek
• biologické markery MeSH
• RNA MeSH

The most common reason for in vitro fertilization (IVF) cycle cancelation is a lack of quality gametes available for intracytoplasmic sperm injection (ICSI). Here we present the successful fertility treatment of the couple affected by obstructive azoospermia combined with suboptimal response to controlled ovarian stimulation. Since the conventional approach appeared ineffective to overcome both partners' specific problems, the targeted interventions, namely, (1) pharmacological enhancement of sperm motility and (2) polarized light microscopy (PLM)-guided optimization of ICSI time, were applied to rescue the cycle with only immature oocytes and immotile testicular sperm retrieved. The treatment with theophylline aided the selection of viable spermatozoa derived from cryopreserved testicular tissue. When the traditional stimulation protocol failed to produce mature eggs, non-invasive spindle imaging was employed to adjust the sperm injection time to the maturational stage of oocytes extruding a polar body in vitro. The fertilization of 12 late-maturing oocytes yielded 5 zygotes, which all developed into blastocysts. One embryo was transferred into the uterus on day 5 post-fertilization, and another 3 good quality blastocysts were vitrified for later use. The pregnancy resulted in a full-term delivery of a healthy child. This case demonstrates that the individualization beyond the standard IVF protocols should be considered to maximize the chance of poor-prognosis patients to achieve pregnancy with their own gametes.

• Klíčová slova
• IVF add-ons, Oocyte maturity, Polarized light microscopy, Testicular sperm, Theophylline,
• MeSH
• azoospermie epidemiologie   terapie   MeSH
• ejakulace fyziologie   MeSH
• fertilizace in vitro trendy   MeSH
• indukce ovulace MeSH
• intracytoplazmatické injekce spermie MeSH
• kryoprezervace * MeSH
• lidé MeSH
• motilita spermií genetika   MeSH
• narození živého dítěte epidemiologie   MeSH
• oocyty růst a vývoj   MeSH
• oogeneze genetika   MeSH
• spermie patologie   transplantace   MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Five intratesticular sex steroids (testosterone, dihydrotestosterone, androstenedione, estradiol and epitestosterone) along with six serum hormones (LH, FSH, prolactin, SHBG, testosterone and estradiol) were determined in 84 non-obstructive azoospermic men, in order to evaluate to what extent serum and testicular tissue as well as individual hormones in the same material mutually correlate. With exception of androstenedione, tight correlations were found among tissue content of sex steroids, while only weak correlation was recorded between serum and testicular concentrations of major sex steroids testosterone and estradiol. It points to importance of measurement of intratesticular steroids in combination with examination of sperm parameters for assessment of testicular function and spermatogenesis.

• MeSH
• azoospermie krev   diagnóza   MeSH
• biologické markery krev   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• pohlavní steroidní hormony krev   MeSH
• spermatogeneze fyziologie   MeSH
• testis metabolismus   MeSH
• testosteron krev   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• biologické markery MeSH
• pohlavní steroidní hormony MeSH
• testosteron MeSH

INTRODUCTION: There is an increasing number of cystic fibrosis (CF) patients with the diagnosis established in adulthood worldwide. AIM: To give an overview of our experience with the diagnostics of CF in adulthood in the Czech Republic. METHODS: CF patients with the diagnosis determined at the age 18 years during 2000-2014 period were selected from the Czech Registry of CF (www.cfregistr.cz). Demographic and clinical data were reported from medi-cal records at the time of diagnosis and as of 31st December 2014. Only those with two CF causing mutation or with one CF causing mutation together with sweat chloride concentration > 60 mmol/l were included in the study. The clinical presentation was compared with a control group consisting of homozygous F508del patients with the diagnosis established in childhood. RESULTS: 23 patients (16 men and 7 women) with the diagnosis determined at a mean age of 32.9 ± 8.5 years were included in the study. Presenting symptoms included bronchiectasis and/or haemoptysis in 12 cases, obstructive azoospermia in 7 cases and recurrent pancreatitis in 4 cases. When compared with the control group, the patients had higher age (38.6 ± 8.3 vs. 28.3 ± 4.7 years; p < 0.001), a lower concentration of sweat chloride (62 ± 23 vs. 90 ± 12 mmol/l; p < 0.001), less frequent airway infections with Pseudomonas aeruginosa and/or Burkholderia cepacia complex (4 vs. 12; p = 0.029), bronchiectasis (14 vs. 23; p = 0.001), exocrine pancreatic insufficiency (1 vs. 23; p < 0.001) and therapy with insulin (1 vs. 9; p = 0.01); on the contrary, pancreatitis was more frequent (6 vs. 0; p = 0.022). CONCLUSION: Diagnosis of CF in adults should be considered in those with corresponding symptoms in respiratory, digestive and reproductive tract. Clinical presentation differs from classical CF in many parameters. KEY WORDS: adults - cystic fibrosis - diagnostics.

• MeSH
• azoospermie etiologie   MeSH
• bronchiektazie etiologie   MeSH
• chronická pankreatitida etiologie   MeSH
• cystická fibróza komplikace   diagnóza   genetika   MeSH
• dospělí MeSH
• exokrinní pankreatická insuficience etiologie   MeSH
• hemoptýza etiologie   MeSH
• lidé MeSH
• mutace MeSH
• registrace MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

Male infertility is a serious problem in an increasing number of couples. We report an infertile man with non-obstructive azoospermia and karyotype 45,XY,rob(14;22). The immunofluorescence analysis of his testicular tissue using antibodies to SYCP1, SYCP3, HORMAD2, MLH1, and centromeres showed delayed synapsis of the chromosomes involved in the translocation, a varying extent of trivalent asynapsis and its association with sex chromosomes. The mean frequency of meiotic recombination per cell was within the range of normal values. Fluorescence in situ hybridization (FISH) with probes for chromosomes 14 and 22 revealed 5.83% of chromosomally abnormal testicular spermatozoa. FISH with probes for chromosomes X, Y, and 21 showed frequencies of disomic and diploid testicular spermatozoa increased when compared to ejaculated sperm of healthy donors, but comparable with published results for azoospermic patients. PGD by FISH for the translocation and aneuploidy of chromosomes X, Y, 13, 18, and 21 showed a normal chromosomal complement in one out of three analyzed embryos. A healthy carrier girl was born after the embryo transfer. This study shows the benefits of preimplantation genetic diagnosis in a case of a rare Robertsonian translocation carrier with azoospermia and a relatively low frequency of chromosomally unbalanced testicular spermatozoa.

• Klíčová slova
• Aneuploidy, FISH, PGD, Robertsonian translocation, azoospermia, meiosis, testicular sperm,
• MeSH
• aneuploidie * MeSH
• azoospermie genetika   MeSH
• detekce genetických nosičů * MeSH
• karyotypizace MeSH
• lidé MeSH
• lidské chromozomy, pár 14 * MeSH
• lidské chromozomy, pár 22 * MeSH
• meióza genetika   MeSH
• spermie metabolismus   MeSH
• translokace genetická * MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

The main aim of the study was to assess whether the longer use of a GnRH-agonist implant (deslorelin 4.7 mg, Suprelorin) in toms would lead to the suppression of spermatogenesis comparable with histologic appearance in juvenile animals as was previously described in dogs. The other aims were to monitor the progression of the testes size decrease and development of azoospermia 5 to 7 months after treatment with a GnRH-agonist implant. In animals, 5, 6, and 7 months after GnRH-agonist implant insertion, variable histological appearance of germinal epithelium was found, when tubules with elongating spermatids, round spermatids, spermatocytes, and spermatogonia as the most developed germinal cells were found in each group of toms. In all male cats, 5, 6, and 7 months after implant insertion, testosterone concentrations and testes size significantly differed between the first and the last visit. All animals, except one tom castrated 5 months after implant insertion, developed complete azoospermia. However, in this tom, all spermatozoa were immotile. Treatment with the subcutaneous GnRH-agonist implant was well tolerated, and no treatment-related adverse effects were noted. These results reported the efficacy of 4.7-mg deslorelin implant (Suprelorin) during its 7 months of use. The complete azoospermia confirms its contraceptive effect. However, the histologic evaluation revealed a great individual variability in the degree of spermatogenic suppression. The question as to whether spermatogenesis in toms can be suppressed in all males to the level of spermatogonia/primary spermatocytes after prolonged exposure to deslorelin has yet to be answered.

• Klíčová slova
• GnRH-agonist, Histologic evaluation, Male cat, Semen collection, Testis size, Testosterone,
• MeSH
• antikoncepce metody   veterinární   MeSH
• azoospermie chemicky indukované   veterinární   MeSH
• hormon uvolňující gonadotropiny agonisté   MeSH
• implantované léky MeSH
• kočky * MeSH
• kontraceptiva mužská aplikace a dávkování   MeSH
• motilita spermií účinky léků   MeSH
• spermatogeneze účinky léků   MeSH
• testis anatomie a histologie   MeSH
• triptorelin-pamoát aplikace a dávkování   analogy a deriváty   MeSH
• zvířata MeSH
• Check Tag
• kočky * MeSH
• mužské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• deslorelin MeSH Prohlížeč
• hormon uvolňující gonadotropiny MeSH
• implantované léky MeSH
• kontraceptiva mužská MeSH
• triptorelin-pamoát MeSH

BACKGROUND: High-throughput studies provide a wide spectrum of genes for use as predictive markers during testicular sperm extraction (TESE) in combination with ICSI. In this work, we used the specimens from testicular biopsies of men with non-obstructive azoospermia who underwent TESE to investigate the expression of spermatogenesis-related genes MND1, SPATA22, GAPDHS and ACR. METHODS: Testicular biopsy specimens were subdivided into three groups: hypospermatogenesis (HS); maturation arrest (MA); and Sertoli cell-only syndrome (SCO). The levels of expression of the spermatogenesis-related genes MND1, SPATA22, GAPDHS and ACR in the testes were compared among these three groups using the reverse transcription polymerase chain reaction (RT-PCR) technique. RESULTS: Analysis of the expression of spermatogenic genes in human testes with abnormal spermatogenesis showed different expression patterns in patients from different groups. Fertilization rate for studied set of patients was 66% and pregnancy rate 29%. For HS group fertilization rate was 72% and pregnancy rate 32%, while for MA group fertilization and pregnancy rates were 54% and 26%, respectively. Fertilization rates in relation to the studied genes were uniformly around 70%, pregnancy rates for ACR and GAPDHS genes were surprisingly low at 6% and 8% correspondingly. CONCLUSIONS: Analysis of the expression of genes involved in spermatogenesis can be a fast additional test for the level of spermatogenesis in testicular samples.

• MeSH
• akrosin genetika   MeSH
• azoospermie genetika   patologie   MeSH
• biopsie MeSH
• dospělí MeSH
• fertilizace MeSH
• glyceraldehyd-3-fosfátdehydrogenasy genetika   MeSH
• intracytoplazmatické injekce spermie MeSH
• lidé středního věku MeSH
• lidé MeSH
• nemoci varlat genetika   patologie   MeSH
• odběr spermií MeSH
• oligospermie genetika   patologie   MeSH
• polymerázová řetězová reakce s reverzní transkripcí MeSH
• proteiny buněčného cyklu genetika   MeSH
• Sertoli cell only syndrom genetika   patologie   MeSH
• spermatogeneze genetika   MeSH
• stanovení celkové genové exprese MeSH
• těhotenství MeSH
• testis metabolismus   patologie   MeSH
• úhrn těhotenství na počet žen v reprodukčním věku MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• akrosin MeSH
• glyceraldehyd-3-fosfátdehydrogenasy MeSH
• MND1 protein, human MeSH Prohlížeč
• proteiny buněčného cyklu MeSH
• SPATA22 protein, human MeSH Prohlížeč

BACKGROUND: Non-obstructive azoospermic (NOA) men can father children after testicular sperm extraction (TESE). Previous studies suggest that they may be at risk of producing chromosomally abnormal spermatozoa, but the number of sperm analysed per patient was usually very low. METHODS: Multicolour fluorescence in situ hybridization was used for detection of chromosome 13, 15, 16, 18, 21, 22, X and Y disomy and diploidy in sperm obtained from NOA men (n = 17) and control donors (n = 10). At least 500 testicular sperm were scored in each patient to increase the precision of our study. RESULTS: The mean frequency of overall disomy (2.32%) and diploidy (0.80%) found in 13 689 testicular spermatozoa of NOA patients was significantly higher than in the ejaculated sperm of normospermic control donors, disomy (0.62%) and diploidy (0.29%). A highly significant increase in frequencies of chromosome 15, Y and overall disomy (P < 0.001), and a significant increase in disomy of chromosome 13 (P = 0.002), 16 (P = 0.031) and 21 (P = 0.018), overall diploidy (P = 0.031) and diploidy caused by errors in meiosis I (P = 0.011) were observed in the NOA group. CONCLUSIONS: Testicular sperm samples of NOA patients show a higher incidence of numerical chromosomal abnormalities compared with ejaculated sperm of control donors. Appropriate genetic counselling is necessary in NOA men undergoing TESE.

• MeSH
• aneuploidie * MeSH
• azoospermie genetika   MeSH
• chromozomální aberace MeSH
• dospělí MeSH
• hybridizace in situ fluorescenční MeSH
• lidé středního věku MeSH
• lidé MeSH
• mapování chromozomů MeSH
• meióza MeSH
• přenos embrya MeSH
• riziko MeSH
• senioři MeSH
• spermie patologie   MeSH
• testis patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH