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1.
Fertil Steril ; 112(1): 61-72.e1, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31103287

RESUMO

OBJECTIVE: To study peripheral blood DNA differential methylation in oligozoospermic infertile men in comparison with normozoospermic fertile controls. DESIGN: Case-control study. SETTING: Reproductive biology laboratory. PATIENTS(S): Azoospermic and oligozoospermic infertile patients (n = 6) and normozoospermic fertile controls (n = 6) in the discovery phase, and oligo/asthenozoospermic infertile men (n = 11) and normozoospermic fertile controls (n = 10) in the validation phase. INTERVENTION(S): Blood samples drawn from all participants, DNA isolation and methylation analysis. MAIN OUTCOME MEASURE(S): DNA methylation values analyzed using genomewide methylation 450K BeadChip array, followed by deep sequencing of selected regions for methylation analysis in the neighborhood regions of differentially methylated CpGs. RESULT(S): We found 329 differentially methylated CpG spots, out of which 245 referred to the genes, representing 170 genes. Deep-sequencing analysis confirmed the methylation pattern suggested by 450K array. A thorough literature search suggested that 38 genes play roles in spermatogenesis (PDHA2, PARP12, FHIT, RPTOR, GSTM1, GSTM5, MAGI2, BCAN, DDB2, KDM4C, AGPAT3, CAMTA1, CCR6, CUX1, DNAH17, ELMO1, FNDC3B, GNRHR, HDAC4, IRS2, LIF, SMAD3, SOD3, TALDO1, TRIM27, GAA, PAX8, RNF39, HLA-C, HLA-DRB6), are testis enriched (NFATC1, NMNAT3, PIAS2, SRPK2, WDR36, WWP2), or show methylation differences between infertile cases and controls (PTPRN2, RPH3AL). CONCLUSION(S): We found a statistically significant correlation between peripheral blood DNA methylation and male infertility, raising the hope that epigenome-based blood markers can be used for screening male infertility risk. The study also identified new candidates for spermatogenesis and fertility.


Assuntos
Azoospermia/diagnóstico , Metilação de DNA , Fertilidade/genética , Perfilação da Expressão Gênica/métodos , Análise de Sequência com Séries de Oligonucleotídeos , Oligospermia/diagnóstico , Azoospermia/sangue , Azoospermia/genética , Azoospermia/fisiopatologia , Estudos de Casos e Controles , Ilhas de CpG , Marcadores Genéticos , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Oligospermia/sangue , Oligospermia/genética , Oligospermia/fisiopatologia , Fenótipo , Valor Preditivo dos Testes
2.
Int Urol Nephrol ; 51(3): 401-408, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30701399

RESUMO

PURPOSE: We studied prospectively the role of FSH, testis volume, age, duration of infertility, hormonal therapy, varicocelectomy and testicular histopathology in determining the sperm retrieval rate (SRR) in fresh versus salvage micro-TESE. METHODS: Our study analysed retrospectively the prospectively maintained database of 330 NOA patients who underwent micro-TESE either 1st or 2nd or 3rd timers from January 2017 to August 2018 from the Andrology Clinic of a specialized IVF centre. They were divided equally into 3 groups, group (1) were 1st timers, group (2) were 2nd timers and group (3) were 3rd timers, respectively. RESULTS: Interestingly, our study demonstrated a positive correlation between high FSH level and favourable micro-TESE outcome in 1st timers who underwent micro-TESE (p 0.015). Additionally, our study revealed a positive correlation between age and favourable micro-TESE outcome in 2nd timers who underwent micro-TESE (p 0.031). Further, our study revealed a positive correlation between right testicular volume and favourable micro-TESE outcome in 1st timers who underwent micro-TESE (p 0.023). Eventually, there was a significant positive correlation between histopathology which was mainly sertoli cell only syndrome and favourable micro-TESE outcome in 1st timers micro-TESE (p 0.001). CONCLUSION: Our study demonstrates that sperms can be retrieved despite high FSH level, and preoperative histopathology is not essential in predicting SRR in NOA patients. Further, age can be considered a good prognostic factor in patients who undergo salvage micro-TESE for the 2nd time.


Assuntos
Hormônio Foliculoestimulante/sangue , Infertilidade Masculina/terapia , Recuperação Espermática , Testículo/patologia , Adulto , Fatores Etários , Azoospermia/sangue , Azoospermia/complicações , Hormônios/uso terapêutico , Humanos , Infertilidade Masculina/sangue , Infertilidade Masculina/etiologia , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Estudos Retrospectivos , Terapia de Salvação , Varicocele/cirurgia
3.
Urol J ; 16(3): 295-299, 2019 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-30251746

RESUMO

PURPOSE: In limited number of studies performed concerning the psychological moods of female, and male with the diagnosis of infertility, data related to increased incidence of depression, and anxiety have been reported. The objective of this study is to determine whether azoospermia has any psychological effects on men, and investigate the potential effects of psychological mood on seminal, and plasma oxidative parametres. MATERIALS AND METHODS: Twenty-seven patients whose two consecutive semen analyses were reported as pellet -negative azoospermia constituted the azoospermic group, and 30 healthy individuals who applied to the infertility polyclinic with normal seminal parametres comprised the normozoospermic group. RESULTS: BECK Anxiety scores were significantly higher in the azoospermic group (P = 0.009). When compared with the normozoospermic group, higher levels of oxidative parametres, but lower levels of the antioxidative parametre were detected in the azoospermic group (P < 0.05). In the azoospermic group, a positive correlation was detected between BECK Anxiety and total oxidant status. Anxiety may increase oxidative parametres in both plasma, and seminal fluid (r = 473, p = 0.026). CONCLUSION: Anxiety may increase oxidative parametres in both plasma, and seminal fluid. Oxidative milieu may impair sperm quality, and affect the success rates of assisted reproductive treatments. The determination of oxida-tive potential in infertile men, thiol, and prolidase may be used as biomarkers.


Assuntos
Azoospermia/metabolismo , Azoospermia/psicologia , Sêmen/metabolismo , Adulto , Azoospermia/sangue , Humanos , Masculino , Oxirredução
4.
Andrologia ; 51(2): e13176, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30311269

RESUMO

We aimed in this retrospective study to evaluate non-surgical preoperative parameters and testicular histopathology in determining the sperm retrieval rate (SRR) in non-obstructive azoospermic (NOA) patients. We evaluated the data of 1,395 consecutive patients who underwent 1st time micro-dissection testicular sperm extraction (micro-TESE) that was done by fifteen different senior andrologists and a consequent undefined number of biologists assisting them in the operative rooms from January 2010 to May 2013 in a specialised IVF centre. Our study did not demonstrate any statistical significance between the mean age, the mean duration of infertility and finally, the mean of FSH levels of the patients with positive and negative micro-TESE outcomes (p-value 0.391, 0.543, 0.767 respectively). Moreover, our study did not demonstrate any association between different types of hormonal therapy prior to micro-TESE and patients with positive micro-TESE outcome (p-value 0.219). Interestingly, our study showed positive associations between the testicular histopathology SCO (sertoli cell only syndrome) and high FSH and sperm retrieval rate (p < 0.001, 0.02 respectively). Logistic regression analysis revealed high statistical significance between sperm retrieval rate and high FSH level and testicular histopathology (OR 1.6, 0.21, 95% CI lower 1.2, 0.008 and upper 2.1, 0.06 and finally p 0.003, <0.001 respectively). This study reveals that preoperative testicular biopsy is unnecessary to predict the sperm retrieval rate in NOA patients.


Assuntos
Azoospermia/sangue , Hormônio Foliculoestimulante/sangue , Recuperação Espermática , Espermatozoides , Adulto , Humanos , Masculino , Estudos Retrospectivos
5.
Genet Med ; 21(1): 189-194, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29904161

RESUMO

PURPOSE: In about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. Highly predictive clinical parameter(s) for diagnosing such an adult-onset cases are missing. METHODS: (1) Exome sequencing (ES), (2) Sanger sequencing of FANCA, (3) diepoxybutane (DEB)-induced chromosome breakage test. RESULTS: ES identified a pathogenic homozygous FANCA variant in a patient affected by Sertoli cell-only syndrome (SCOS) and in his azoospermic brother. Although they had no overt anemia, chromosomal breakage test revealed a reverse somatic mosaicism in the former and a typical FA picture in the latter. In 27 selected SCOS cases, 1 additional patient showing compound heterozygous pathogenic FANCA variants was identified with positive chromosomal breakage test. CONCLUSION: We report an extraordinarily high frequency of FA in a specific subgroup of azoospermic patients (7.1%). The screening for FANCA pathogenic variants in such patients has the potential to identify undiagnosed FA before the appearance of other severe clinical manifestations of the disease. The definition of this high-risk group for "occult" FA, based on specific testis phenotype with mild/borderline hematological alterations, is of unforeseen clinical relevance.


Assuntos
Azoospermia/genética , Proteína do Grupo de Complementação A da Anemia de Fanconi/genética , Anemia de Fanconi/genética , Síndrome de Células de Sertoli/genética , Adulto , Idade de Início , Azoospermia/sangue , Azoospermia/complicações , Azoospermia/patologia , Quebra Cromossômica , Exoma/genética , Anemia de Fanconi/sangue , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/patologia , Feminino , Regulação da Expressão Gênica/genética , Humanos , Masculino , Mutação , Linhagem , Fenótipo , Síndrome de Células de Sertoli/sangue , Síndrome de Células de Sertoli/complicações , Síndrome de Células de Sertoli/patologia , Testículo/metabolismo , Testículo/patologia , Sequenciamento Completo do Exoma
6.
Physiol Res ; 67(Suppl 3): S521-S524, 2018 11 28.
Artigo em Inglês | MEDLINE | ID: mdl-30484678

RESUMO

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.


Assuntos
Azoospermia/sangue , Azoospermia/diagnóstico , Hormônios Esteroides Gonadais/sangue , Espermatogênese/fisiologia , Testículo/metabolismo , Adulto , Biomarcadores/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Testosterona/sangue , Adulto Jovem
7.
Andrologia ; 50(10): e13136, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30159913

RESUMO

The reported sperm retrieval rate (SRR) in patients with nonobstructive azoospermia (NOA) due to spermatogenic arrest (SA) is highly variable in the literature. This discrepancy could be explained by the heterogeneity of testicular tissues. Surprisingly, even though inhibin B levels reflect directly Sertoli cell function; no studies have evaluated this parameter in SA. We aimed to clarify the morphological and biological profile in 158 men with SA. From the total population, patients whose seminiferous tubules diameter was below 165 µm have higher SRR (46.9% vs. 27.4%, p < 0.05), lower inhibin levels and a higher frequency of nonuniform SA (71.9% vs. 38.7%, p < 0.001). On multivariate analysis, patients with late SA and a history of cryptorchidism were positively associated with successful sperm extraction. Patients with successful SRR and uniform SA exhibited inhibin levels twofold lower than those with failed TESE (45 pg/ml vs. 95 pg/ml, p < 0.05), whereas FSH levels were similar in the two groups. In this study, we showed for the first time that the mean diameter of the seminiferous tubules may be of value in the diagnosis of SA. Our results suggest that inhibin levels could be useful in the management of NOA with SA, along with FSH levels and testicular volume.


Assuntos
Azoospermia/congênito , Recuperação Espermática , Testículo/patologia , Adulto , Azoospermia/sangue , Azoospermia/complicações , Azoospermia/etiologia , Azoospermia/patologia , Azoospermia/terapia , Biópsia , Hormônio Foliculoestimulante/sangue , Humanos , Inibinas/sangue , Masculino , Estudos Retrospectivos
8.
Zhonghua Nan Ke Xue ; 24(1): 27-32, 2018.
Artigo em Chinês | MEDLINE | ID: mdl-30157356

RESUMO

Objective: To investigate the characteristics of the semen parameters of native Tibetans and immigrated Tibetan Hans in the high-altitude area and analyze the influence of altitude adaptation on male fertility. METHODS: This study included 1 563 infertile male patients, including 698 native Tibetans and 865 immigrated Tibetan Hans, and 56 normal fertile men, including 33 native Tibetans and 23 Tibetan Hans. We obtained semen samples from the subjects for routine semen analysis and sperm DNA fragmentation index (DFI) examination and collected peripheral blood for determination of the reproductive hormone levels. RESULTS: In the infertile patients, the native Tibetans, as compared with the immigrated Hans, showed significantly higher incidence rates of azoospermia (5.87% vs 2.89%, P <0.05), severe oligozoospermia (3.15% vs 1.73%, P <0.05) and abnormal seminal viscosity (43.12% vs 25.89%, P<0.01), but no statistically significant differences in the percentages of normozoospermia (81.08% vs 87.39%, P >0.05), oligozoospermia (5.44% vs 3.93%, P >0.05), severe asthenozoospermia (4.44% vs 4.04%, P >0.05) or severe teratozoospermia (4.58% vs 6.59%, P >0.05). In the normal fertile men, there were no statistically significant differences between the native Tibetans and immigrated Hans in age (ï¼»32.42 ± 4.82ï¼½ vs ï¼»34.57 ± 6.01ï¼½ yr, P >0.05), sperm concentration (ï¼»143.69 ± 85.74ï¼½ vs ï¼»155.11 ± 82.56ï¼½ ×106/ml, P >0.05), straight line velocity (ï¼»25.74 ± 3.94ï¼½ vs ï¼»27.24 ± 3.46ï¼½ µm/s, P >0.05), percentage of morphologically normal sperm (ï¼»8.22 ± 4.35ï¼½ vs ï¼»7.28±2.46ï¼½ %, P >0.05), total testosterone concentration (ï¼»17.97 ± 2.98ï¼½ vs ï¼»15.72 ± 6.38ï¼½ nmol/L, P >0.05), or follicle stimulating hormone level (ï¼»5.51 ± 1.62ï¼½ vs ï¼»4.17 ± 2.08ï¼½ IU/L, P >0.05). However, the immigrated Hans, in comparison with the native Tibetans, exhibited a higher sperm motility (ï¼»79.75 ± 14.67ï¼½ vs ï¼»66.58 ± 17.21ï¼½%, P <0.05), a lower curvilinear velocity (ï¼»60.97 ± 2.71ï¼½ vs ï¼»71.14 ± 82.13ï¼½ µm/s, P <0.05) and a lower level of luteinizing hormone (ï¼»4.28 ± 1.20ï¼½ vs ï¼»5.84 ± 1.15ï¼½ IU/L, P <0.05). CONCLUSIONS: During the acclimatization to the plateau hypoxia environment, the immigrated Tibetan Hans undergo adaptive changes in sperm concentration and motility and have lower incidence rates of azoospermia and severe oligozoospermia than native Tibetan males.


Assuntos
Aclimatação/fisiologia , Altitude , Emigrantes e Imigrantes , Infertilidade Masculina/diagnóstico , Análise do Sêmen , Azoospermia/sangue , Azoospermia/diagnóstico , Azoospermia/epidemiologia , Fragmentação do DNA , Fertilidade , Humanos , Hipóxia/sangue , Hipóxia/fisiopatologia , Infertilidade Masculina/sangue , Infertilidade Masculina/epidemiologia , Hormônio Luteinizante/sangue , Masculino , Oligospermia/sangue , Oligospermia/diagnóstico , Oligospermia/epidemiologia , Sêmen , Contagem de Espermatozoides , Motilidade Espermática , Tibet , Viscosidade
9.
Hum Reprod Update ; 24(4): 442-454, 2018 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-29726895

RESUMO

BACKGROUND: Testicular sperm extraction (TESE) is a surgical procedure to retrieve spermatozoa from the testes of men with azoospermia to help them achieve biological parenthood. Although effective, the surgical procedure is not without complications and haematoma, devascularization, inflammation and a decrease in testosterone levels have been described as such. The prevalence and duration of hypogonadism and associated symptoms after TESE have not been studied systematically. OBJECTIVE AND RATIONALE: In this systematic review we addressed the following research questions: Are serum testosterone levels decreased after TESE and, if so, do these levels recover over time? What is the prevalence of symptoms and signs related to hypogonadism after TESE and are they related to testosterone levels? SEARCH METHODS: We searched the databases Pubmed and Embase from 1 January 1993 to 26 June 2017. We combined subject headings with terms in title and/or abstract for participants, intervention and outcomes. We included all studies that reported on TESE, regardless of the specific technique used, that measured testosterone and/or LH, and/or had information on signs or symptoms related to hypogonadism as defined by hypogonadism guidelines. An additional inclusion criterion was that studies described these measurements both before and after TESE. The quality of the included studies was assessed using the Risk Of Bias In Non-randomized Studies-of Interventions tool. OUTCOMES: We identified 15 studies reporting on total testosterone levels of which five studies also reported on testicular volume and one study on erectile dysfunction. Men with Klinefelter syndrome and men with non-obstructive azoospermia had the strongest decrease in total testosterone levels 6 months after TESE, with a mean decrease of 4.1 and 2.7 nmol/l, respectively, which recovered again to baseline levels 26 and 18 months after TESE, respectively. At 6 months after TESE, some studies reported serum total testosterone concentrations below a cut-off value of 12 nmol/l, where symptoms and signs related to hypogonadism may appear. Furthermore, an increased prevalence of erectile dysfunction related to decreased total testosterone levels 6 months after TESE was reported. Also, in some men a decrease in testicular volume was reported. However, it is not clear if this is related to low testosterone levels. WIDER IMPLICATIONS: The transient, but statistically significant, decrease in total testosterone levels indicates that men are at risk of developing a temporary hypogonadism after TESE, but there is insufficient evidence for whether patients actually experience clinical symptoms in case of decreased serum testosterone levels. To be able to properly counsel TESE patients, more large-scale monitoring on signs and symptoms of hypogonadism, in combination with testosterone measurements, needs to be performed in men undergoing TESE.


Assuntos
Hipogonadismo/etiologia , Recuperação Espermática/efeitos adversos , Adulto , Azoospermia/sangue , Azoospermia/complicações , Humanos , Hipogonadismo/diagnóstico , Hipogonadismo/epidemiologia , Síndrome de Klinefelter/sangue , Síndrome de Klinefelter/complicações , Masculino , Fatores de Risco , Recuperação Espermática/estatística & dados numéricos , Espermatozoides/patologia , Testosterona/sangue
10.
Fertil Steril ; 109(5): 777-782, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29778371

RESUMO

The purpose of this document is to review the current methods of diagnosis and evaluation for men with azoospermia.


Assuntos
Comitês Consultivos/normas , Azoospermia/diagnóstico , Azoospermia/genética , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/genética , Azoospermia/sangue , Humanos , Infertilidade Masculina/sangue , Masculino , Testosterona/sangue
11.
Andrologia ; 50(7): e13022, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29687503

RESUMO

Azoospermia can be diagnosed in about 10%-15% of the infertile male population. To overcome the problem of failure to produce spermatozoa in the ejaculate in patients with nonobstructive azoospermia (NOA), testicular sperm extraction (TESE) may be performed to find the focal area of spermatogenesis. A 47-year-old man with NOA presented for treatment of secondary couple infertility. The patient underwent a first TESE 7 years earlier with cryopreservation, and an intracytoplasmic sperm injection-embryo transfer ended in a term pregnancy. He reported a history of repeated testicular traumas. At the present time, a complete medical workup was carried out, including clinical history, general and genital physical examination, scrotal and transrectal ultrasounds. Hormone measurements showed follicle-stimulating hormone level of 42.7 IU/L, luteinising hormone of 11.4 IU/L, total testosterone of 2.6 ng/ml and right and left testicular volume, respectively, of 4 and 3.9 ml. He underwent a second TESE, with successful sperm retrieval and cryopreservation. The histological pattern was hypospermatogenesis. In cases of extreme testicular impairment, although in the presence of very high follicle-stimulating hormone value and small testicular volume, estimating poor sperm recovery potential, the integration of clinical and anamnestic data, could help the surgeon to practise the more appropriate method of treatment.


Assuntos
Azoospermia/diagnóstico , Escroto/diagnóstico por imagem , Recuperação Espermática , Testículo/diagnóstico por imagem , Azoospermia/sangue , Azoospermia/terapia , Estradiol/sangue , Hormônio Foliculoestimulante/sangue , Humanos , Hormônio Luteinizante/sangue , Masculino , Pessoa de Meia-Idade , Prolactina/sangue , Testosterona/sangue , Resultado do Tratamento , Ultrassonografia
12.
Hum Reprod ; 33(6): 1087-1098, 2018 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-29635626

RESUMO

STUDY QUESTION: Are exosomal microRNAs (miRNAs) in seminal plasma (SP) useful as markers of the origin of azoospermia and the presence of sperm in the testis? SUMMARY ANSWER: Our study demonstrated the potential of several miRNAs contained in small extracellular vesicles (sEVs) of seminal fluid as sensitive and specific biomarkers for selecting those azoospermic individuals with real chances of obtaining spermatozoa from the testicular biopsy. WHAT IS KNOWN ALREADY: There are no precise non-invasive diagnostic methods for classifying the origin of the sperm defects in semen and the spermatogenic reserve of the testis in those infertile men with a total absence of sperm in the ejaculate (azoospermia). The diagnosis of such individuals is often based on the practice of biopsies. In this context it is reasonable to study the presence of organ-specific markers in human semen that contains fluid from the testis and the male reproductive glands, which could help in the diagnosis and prognosis of male infertility. Additionally, seminal fluid contains high concentrations of sEVs that are morphologically and molecularly consistent with exosomes, which originate from multiple cellular sources in the male reproductive tract. STUDY DESIGN, SIZE, DURATION: A case and control prospective study was performed. This study compares the miRNA content of exosomes in semen samples obtained from nine normozoospermic fertile individuals (control group), 14 infertile men diagnosed with azoospermia due to spermatogenic failure, and 13 individuals with obstructive azoospermia and conserved spermatogenesis. Additionally, three severe oligozoospermic individuals (<5 × 106 sperm/ml) were included in the study. PARTICIPANTS/MATERIALS, SETTING, METHODS: A differential high-throughput miRNA profiling analysis using miRNA quantitative PCR panels was performed in SP exosomes from azoospermic patients and fertile individuals. MAIN RESULTS AND THE ROLE OF CHANCE: A total of 623 miRNAs were included in the miRNA profiling stage of the study. A total of 397 miRNAs (63.7%) were consistently detected in samples from all groups and statistically analysed, which revealed altered patterns of miRNA expression in infertile patients. We focused on the miRNAs that were differentially expressed between azoospermia as a result of an obstruction in the genital tract (i.e. having conserved spermatogenesis) and azoospermia caused by spermatogenic failure, and described, in a miRNA validation stage of the study, the expression values of one miRNA (miR-31-5p) in exosomes from semen as a predictive biomarker test for the origin of azoospermia with high sensitivity and specificity (>90%). The efficacy of the predictive test was even better when the blood FSH values were included in the analysis. Furthermore a model that included miR-539-5p and miR-941 expression values is also described as being useful for predicting the presence of residual spermatogenesis in individuals with severe spermatogenic disorders with diagnostic accuracy. LIMITATIONS, REASONS FOR CAUTION: Further studies, with an independent second population involving a larger number of samples, are needed to confirm our findings. WIDER IMPLICATIONS OF THE FINDINGS: Our findings contribute to the search for the most valuable genetic markers that are potentially useful as tools for predicting the presence of testicular sperm in azoospermic individuals. STUDY FUNDING/COMPETING INTEREST(S): This work was financially supported by grants from the Fondo de Investigaciones Sanitarias/Fondo Europeo de Desarrollo Regional "Una manera de hacer Europa" (FIS/FEDER) [Grant number PI15/00153], the Generalitat de Catalunya [Grant number 2014SGR5412]. S.L. is sponsored by the Researchers Stabilization Program (ISCIII/Generalitat de Catalunya) from the Spanish National Health System [CES09/020].


Assuntos
Azoospermia/genética , Exossomos/genética , MicroRNAs/análise , Análise do Sêmen/métodos , Sêmen/química , Espermatogênese/genética , Adulto , Azoospermia/sangue , Azoospermia/diagnóstico , Estudos de Casos e Controles , Marcadores Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Reação em Cadeia da Polimerase em Tempo Real , Testículo/química , Adulto Jovem
13.
Urol J ; 15(3): 122-125, 2018 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-29397566

RESUMO

PURPOSE: To evaluate whether an artifical neural network helps to diagnose any chromosomal abnormalities in azoospermic males. MATERIALS AND METHODS: The data of azoospermic males attending to a tertiary academic referral center were evaluated retrospectively. Height, total testicular volume, follicle stimulating hormone, luteinising hormone, total testosterone and ejaculate volume of the patients were used for the analyses. In artificial neural network, the data of 310 azoospermics were used as the education and 115 as the test set. Logistic regression analyses and discriminant analyses were performed for statistical analyses. The tests were re-analysed with a neural network. RESULTS: Both logistic regression analyses and artificial neural network predicted the presence or absence of chromosomal abnormalities with more than 95% accuracy. CONCLUSION: The use of artificial neural network model has yielded satisfactory results in terms of distinguishing patients whether they have any chromosomal abnormality or not.


Assuntos
Azoospermia/genética , Aberrações Cromossômicas , Testículo/patologia , Adulto , Azoospermia/sangue , Estatura , Hormônio Foliculoestimulante/sangue , Humanos , Hormônio Luteinizante/sangue , Masculino , Modelos Biológicos , Tamanho do Órgão , Estudos Retrospectivos , Sêmen , Testosterona/sangue
14.
Kaohsiung J Med Sci ; 34(2): 103-108, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29413225

RESUMO

The aim of this study was to evaluate the predictive value of preoperative hormonal levels and pathology, as well as the outcome of microsurgical testicular sperm extraction in patients with non-obstructive azoospermia (NOA), presenting to our clinic for treatment of infertility. The records of 145 men with NOA who underwent microdissection testicular sperm extraction (micro-TESE) between March 2013 and November 2016 were studied. The patient's age, testicular volume, hormonal profile for follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (TT), and testicular pathology were recorded. The sperm retrieval, the clinical pregnancy and live birth delivery rates were noted. Our testicular sperm retrieval rate was 65.5%. There was no statistical difference in age, testicular volume, or hormonal levels in the TESE-positive and negative groups. Hypospermatogenesis was found in testicular histopathology in 57 of 117 patients (48.7%) who underwent testicular biopsy. Sertoli Cell-Only (SCO) syndrome was seen in 20.5%, Germ Cell Maturation Arrest (MA) in 16.3%, and Atrophy-hyalinization in 14.5%. Seven men had Klinefelter's syndrome (KS), four of whom were TESE-positive. There were no adverse effects of the procedure except for infection at the incision site in one patient. Single intracytoplasmic sperm injection (ICSI) cycles were performed in 92 couples leading to 41 clinical pregnancies and 26 live birth deliveries. Micro-TESE is a safe procedure in experienced hands and provides infertile men with NOA an opportunity to father children. However unselected candidates with NOA should be counselled at the outset that only 17.9% will eventually become biological fathers.


Assuntos
Azoospermia/sangue , Azoospermia/patologia , Hormônios/sangue , Microdissecção , Cuidados Pré-Operatórios , Recuperação Espermática , Testículo/patologia , Adulto , Azoospermia/cirurgia , Humanos , Masculino , Oligospermia/patologia , Tamanho do Órgão , Valor Preditivo dos Testes
15.
Andrologia ; 50(2)2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28766811

RESUMO

We aimed to analyse the relationship between sperm parameters and International Index of Erectile Function (IIEF) score, the Female Sexual Function Index (FSFI) score, the testosterone (T) level in infertile men and between FSFI score and partners' fertility. Patients were divided into three groups; (group 1: azoospermia [n = 57], group 2: sperm count <15 million [n = 41], group 3: sperm count >15 million [n = 81]). Patients and their partners filled the IIEF and FSFI forms. The normality of the tests was analysed with Kolmogorov-Smirnov and Shapiro-Wilk tests. Spearman's rho test, a nonparametric test, was used to correlate the data. A value of p < .05 was considered statistically significant. There was a positive correlation between the sperm count, other sperm parameters, morphology and motility and IIEF score, FSFI score and T (p = .037, .028 and .041 respectively). We found a positive correlation between IIEF score and FSFI score (p = .182). Infertile partners' FSFI score was lower than fertile partners' scores (p = .023). Male infertility causes severe sexual dysfunction in couples, and female sexual dysfunction increases in parallel to that of men. Male sexual function also tends to decrease with low sperm count. While the clinician evaluates infertile couples, psychological and sexual functions should also be evaluated and patients should not be deprived of appropriate treatment.


Assuntos
Azoospermia/psicologia , Disfunção Erétil/psicologia , Comportamento Sexual/psicologia , Parceiros Sexuais/psicologia , Espermatozoides/patologia , Adulto , Azoospermia/sangue , Azoospermia/fisiopatologia , Disfunção Erétil/sangue , Disfunção Erétil/fisiopatologia , Feminino , Humanos , Masculino , Análise do Sêmen , Comportamento Sexual/fisiologia , Inquéritos e Questionários , Testosterona/sangue
16.
J Chin Med Assoc ; 81(6): 531-535, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29079114

RESUMO

BACKGROUND: An accurate diagnosis of the etiology of azoospermia is crucial, as sperm retrieval methods differ between patients with non-obstructive azoospermia (NOA) and obstructive azoospermia (OA). The aim of this study was to determine hormone and testes size cutoff values to identify the cause of azoospermia in Taiwanese patients. METHODS: The medical records of azoospermic patients were retrospectively collected from April 2008 to July 2016, including hormone profile, physical examination findings, and testes size. Bilateral testes biopsies or microdissection testicular sperm extraction were performed in all patients for a definite diagnosis. The diagnostic parameters used to distinguish NOA from OA were analyzed using the t-test and receiver operating characteristic curves. RESULTS: A total of 51 patients with OA and 156 with NOA were included. The mean levels of testosterone (4.5 vs. 3.4 ng/ml) and E2 (26.3 vs. 19.2 pg/ml) were significantly higher in the OA group, whereas the levels of follicular stimulating hormone (FSH) (5.6 vs. 25.4 mIU/ml) and Leutinizing hormone (LH) (3.7 vs. 11.6 mIU/ml) were lower. Receiver operating characteristic curve analysis revealed that FSH and right testis size were the best individual diagnostic predictors. Using a combination of FSH >9.2 mIU/ml and right testis size <15 ml, the positive predictive value for NOA was 99.2% and 81.8% for OA. CONCLUSION: A combination of FSH >9.2 mIU/ml and right testis size <15 ml was a strong predictor of NOA in our Taiwanese patients.


Assuntos
Azoospermia/diagnóstico , Testículo/patologia , Azoospermia/sangue , Azoospermia/patologia , Hormônio Foliculoestimulante/sangue , Humanos , Hormônio Luteinizante/sangue , Masculino , Curva ROC , Estudos Retrospectivos , Testosterona/sangue
17.
Med Arch ; 71(4): 243-245, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28974842

RESUMO

INTRODUCTION: Main categorisation of azospermic is in two grups: nonobstructive azoospermia (NOA) and obstructive azoospermia (OA). We had evaluation of prognostic factors and determinants in sperm retrieval procedures in azoospermic patients. METHODS: Retrospective evaluation observed 21 selected patients with NOA and OA azoospermia, after that complete history, physical examination with ultarsound volume of testis and hormonal profile. Hormonal profile included: follicle stimulating hormone (FSH), luteinizing hormone (LH), testosteron (T) and prolactin (P) serum levels. Also karyotype and Y-deletion analysis were done and analyzed. RESULTS: 9 OA patients (42,9%) were undergone for TESE operation and 12 NOA patients (57,1%) for Micro-TESE operation. All TESE procedures were positive (100%). Micro-TESE in 12 selected NOA patients, 5 patients (41,6%) were positive and 7 patients (58,4%) negative. Patients testicular size, serum FSH and testosterone level showed correlation in success of sperm retrieval procedures. CONCLUSION: TESE is elected procedure for obstructive azospermia (OA). Micro-TESE is appropriate sperm retrieval procedurec for patients with non-obstructive azoospermia (NOA) and correlate with high FSH and small volume of testis.


Assuntos
Azoospermia/cirurgia , Recuperação Espermática , Adulto , Azoospermia/sangue , Azoospermia/patologia , Hormônio Foliculoestimulante/sangue , Humanos , Hormônio Luteinizante/sangue , Masculino , Tamanho do Órgão , Prognóstico , Prolactina/sangue , Estudos Retrospectivos , Recuperação Espermática/instrumentação , Testículo/patologia , Testículo/cirurgia , Testosterona/sangue , Resultado do Tratamento
18.
BMC Med Genet ; 18(1): 98, 2017 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-28874128

RESUMO

BACKGROUND: Chromosomal disorders in non obstructive azoospermia (NOA) may have an important influence on spermatogenesis, which may be reflected by the serum inhibin B levels. Till now, few studies have concerned the relationship of genetic causes and inhibin B in NOA. METHODS: In this retrospective study, 322 men with NOA in Center for Reproductive Medicine, Nanfang Hospital, Southern Medical University were collected. The level of follicle stimulating hormone (FSH), inhibin B, Y chromosome microdeletion test (YCMD) and karyotype were measured. RESULTS: Abnormal karyotypes were present in 38.5% of NOA, and YCMD were present in 18.0%, there was a high correlation between karyotypes and YCMD (χ2 = 11.892, P < 0.001). The level of inhibin B in chromosomal abnormality from lowest to highest was 46,XX (or 45,X), 47, XXY, mosaics, polymorphisms, inversion and translocation. And the level of inhibin B within Non-AZF a&b region deletion was higher than AZF a&b microdeletion. CONCLUSION: According to the level of inhibin B, spermatogenesis in chromosomal abnormality from lowest to highest was 46,XX (or 45,X), 47, XXY, mosaics, polymorphisms, inversion and translocation. And spermatogenesis within Non-AZF a&b region deletion was better than AZF a&b microdeletion.


Assuntos
Azoospermia/genética , Inibinas/sangue , Adulto , Azoospermia/sangue , Deleção Cromossômica , Cromossomos Humanos Y , Hormônio Foliculoestimulante , Humanos , Cariotipagem , Masculino , Estudos Retrospectivos , Aberrações dos Cromossomos Sexuais , Espermatogênese/genética
19.
Andrology ; 5(4): 704-710, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28440964

RESUMO

The methylenetetrahydrofolate reductase (MTHFR) gene codes a crucial enzyme which involve in folate metabolism. The effect of MTHFR gene polymorphisms on male fertility status is uncertain and controversial. We evaluated the effect of B vitamin family intake on total homocysteine content and semen parameters of men with MTHFR gene polymorphisms. MTHFR genotypes frequency and serum total homocysteine concentration were measured among 280 men with impaired spermatogenesis (asthenospermia, oligospermia, severe oligospermia and azoospermia) and 85 control participants. B vitamin family dietary intakes were assessed using a semi-quantitative food-frequency questionnaire. In addition, concentrations of vitamins B9 and B12 were evaluated in serum samples of some participants (n = 60). We observed significantly higher frequency of TC or TT genotypes in C677T polymorphism among oligospermic, severe oligospermic and azoospermic men. CC genotype of A1298C polymorphism was significantly higher only in azoospermic men. Also, we observed critical effect of vitamin B9 and B12 intake on decreasing of total homocysteine and improving of semen parameters among the men with T allele of MTHFR C677T polymorphism. Our investigation showed that sufficient consumption of vitamins B9 and B12 influences sperm parameters of men with different MTHFR polymorphisms, especially genotypes with T allele.


Assuntos
Azoospermia/tratamento farmacológico , Suplementos Nutricionais , Fertilidade/efeitos dos fármacos , Ácido Fólico/administração & dosagem , Homocisteína/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Oligospermia/tratamento farmacológico , Polimorfismo Genético , Vitamina B 12/administração & dosagem , Adulto , Azoospermia/sangue , Azoospermia/genética , Azoospermia/fisiopatologia , Estudos de Casos e Controles , Fertilidade/genética , Ácido Fólico/metabolismo , Frequência do Gene , Heterozigoto , Homozigoto , Humanos , Irã (Geográfico) , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/metabolismo , Oligospermia/sangue , Oligospermia/genética , Oligospermia/fisiopatologia , Fenótipo , Índice de Gravidade de Doença , Vitamina B 12/metabolismo
20.
Andrology ; 5(2): 219-225, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28187504

RESUMO

Patients with very low sperm count through direct sperm examination can exhibit extreme oligozoospermia or cryptozoospermia (after centrifugation). The management of these patients is a real challenge for both clinicians and biologists. In this retrospective and comparative cohort study, we compared the andrological phenotype of patients with extreme alterations of spermatogenesis and assessed whether the origin of spermatozoa (testicular or ejaculate) had any influence on intracytoplasmic sperm injection (ICSI) outcomes. A total of 161 ICSI cycles were performed using ejaculated spermatozoa from 75 patients with extreme oligozoospermia (EOS) or cryptozoospermia (CS) and 150 ICSI cycles using extracted testicular spermatozoa from 74 patients with non-obstructive azoospermia (NOA). Physical, hormonal, ultrasound assessments, and ICSI outcomes were performed in each group. Cryptorchidism was significantly more frequent in the NOA group (60.8% vs. 22.6%, p = 0.001). FSH levels were significantly higher [18.9 IU/L (5.9-27.0) vs. 15.3 IU/L (9.0-46.5), p = 0.001] and the majority of inhibin B levels measured were found mostly undetectable in the NOA group as compared to EOS/CS group (31.1% vs. 10.7%, p = 0.0004). Moreover, we found no significant differences in the respect to the fertilization rates (48.9% and 43.3%, p = 0.43), implantation rates (17.4% and 15.9%, p = 0.77), and percentage of top quality embryo (22.4% and 20.4%, p = 0.73) between the two groups. The clinical pregnancy rates per embryo transferred were comparable in both groups (28.3% and 27.4%, p = 0.89). In this study, we showed for the first time a different andrological phenotype between EOS/CS and NOA groups. Indeed, cryptorchidism was significantly more frequent with more severe endocrine parameters found in the NOA group. These results reflect a more profound alteration in spermatogenesis in NOA patients. However, there was no difference in ICSI outcomes between NOA and EOS/CS groups.


Assuntos
Azoospermia/sangue , Criptorquidismo/sangue , Hormônio Foliculoestimulante/sangue , Inibinas/sangue , Oligospermia/sangue , Injeções de Esperma Intracitoplásmicas , Espermatogênese/fisiologia , Testosterona/sangue , Adulto , Azoospermia/diagnóstico por imagem , Criptorquidismo/diagnóstico por imagem , Feminino , Fertilização , Humanos , Masculino , Oligospermia/diagnóstico por imagem , Indução da Ovulação , Gravidez , Taxa de Gravidez , Estudos Retrospectivos , Análise do Sêmen , Recuperação Espermática , Testículo/diagnóstico por imagem , Ultrassonografia , Adulto Jovem
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