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1.
JBRA Assist Reprod ; 25(4): 653-656, 2021 10 04.
Artigo em Inglês | MEDLINE | ID: mdl-34415134

RESUMO

TESE-ICSI (testicular sperm extraction associated with intracytoplasmic sperm injection) represents a technique to attain pregnancy in couples with non-obstructive azoospermia (NOA) and other unlikely situations. Because of the poor pregnancy outcomes obtained by this procedure, we need new sperm selection techniques to improve the livebirth rate of NOA patients. Here we describe a successful micro TESE-ICSI cycle performed with sperm selected through high magnification and polarized light microscopy in a couple with two previous ICSI failures.


Assuntos
Azoospermia , Injeções de Esperma Intracitoplásmicas , Azoospermia/diagnóstico , Azoospermia/terapia , Feminino , Humanos , Masculino , Gravidez , Estudos Retrospectivos , Recuperação Espermática , Espermatozoides
2.
JBRA Assist Reprod ; 25(2): 331-323, 2021 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-33565294

RESUMO

Exclusive Sertoli Cell Syndrome (ESCS) is a rare condition that has male infertility as its main consequence. It is one of the most serious forms of non-obstructive azoospermia, with a poor reproductive prognosis. In some cases, however, such as the type II of the syndrome, sperm can be recovered through testicular puncture and subsequent ICSI, with a 13% success rate. This article aims to report the case of an azoospermic 35-year-old patient, with no other significant changes in complementary exams. After percutaneous puncture of the epididymis and biopsy with no sperm, we diagnosed ESCS, and indicated IVF with donor semen.


Assuntos
Azoospermia , Síndrome de Células de Sertoli , Adulto , Azoospermia/diagnóstico , Epididimo , Humanos , Masculino , Síndrome de Células de Sertoli/diagnóstico , Células de Sertoli , Espermatozoides , Testículo
3.
J Assist Reprod Genet ; 37(5): 1251-1259, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32394194

RESUMO

PURPOSE: Worldwide publications follow the gold standard method-the polymerase chain reaction (PCR)-for detecting Y-chromosome microdeletions; however, markers are frequently variable between the studies. Can we detect the deletions by another molecular method with more genomic coverage? The Y chromosome harbors several different genes responsible for testicular development and spermatogenesis, and its repetitive conformation predisposes it to complex rearrangements that have clinical impact. Our aim was to evaluate a molecular diagnostic method, the Multiplex Ligand Probe-dependent Amplification (MLPA), which is also a valuable ancillary method for the identification of deletions, duplications, and rearrangements in a single and faster reaction, leading to a better comprehension of patients' phenotypes, and should be considered a useful tool for detection of Y chromosome deletions. METHODS: This is a study of diagnostic accuracy (transversal prospective study) conducted to investigate Y-chromosome deletions in 84 individuals through PCR and MLPA methods. Forty-three infertile men (azoospermic and oligozoospermic) and 41 controls (40 fertile men and 1 normal karyotyped woman) were analyzed by PCR and MLPA techniques. RESULTS: We diagnosed seven (7) deletions (16.2%) by PCR and 9 with MLPA (21%). In addition, we found five (5) duplications and a suggestive mosaic. CONCLUSION: Our results demonstrate that MLPA technique is valuable in the investigation of microdeletions and microduplications. Besides deletions, duplications can cause instability of chromosome genes, possibly leading to infertility. Both studied techniques provide an advantageous diagnostic strategy, thus enabling a better genetic counseling.


Assuntos
Infertilidade Masculina/diagnóstico , Técnicas de Diagnóstico Molecular , Reação em Cadeia da Polimerase Multiplex , Oligospermia/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Adolescente , Adulto , Azoospermia/diagnóstico , Azoospermia/epidemiologia , Azoospermia/genética , Azoospermia/patologia , Brasil/epidemiologia , Deleção Cromossômica , Cromossomos Humanos Y/genética , Humanos , Infertilidade Masculina/epidemiologia , Infertilidade Masculina/genética , Infertilidade Masculina/patologia , Masculino , Pessoa de Meia-Idade , Oligospermia/epidemiologia , Oligospermia/genética , Oligospermia/patologia , Fenótipo , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia , Espermatogênese/genética , Adulto Jovem
4.
JBRA Assist Reprod ; 23(3): 246-249, 2019 08 22.
Artigo em Inglês | MEDLINE | ID: mdl-30969740

RESUMO

OBJECTIVE: To study the outcomes of testicular sperm extraction (TESE) among men with pure Sertoli cell-only histology identified during diagnostic testicular biopsy. METHODS: This retrospective cohort study involved 1680 cases of patients with nonobstructive azoospermia (NOA) diagnosed with pure Sertoli cell-only histology who underwent testicular biopsy with TESE in a reference center in Brazil by a single surgeon. Sperm retrieval rates (SSR) were the main outcome measure. RESULTS: Overall, 14.83% of patients with Sertoli cell-only had sperm retrieved with TESE in quantity that allowed the performance of ICSI. No differences were observed in SSR based on testis volume (<15 mL vs. <15 mL) or serum FSH level. CONCLUSIONS: Patients with Sertoli cell-only histology can be counseled that they have some likelihood of sperm retrieval with TESE. Based on the findings, patients to be submitted to testicular biopsy for histologic analysis may be concomitantly prepared for ICSI with TESE in case sperm is available.


Assuntos
Síndrome de Células de Sertoli/patologia , Recuperação Espermática , Testículo/patologia , Adulto , Azoospermia/complicações , Azoospermia/diagnóstico , Azoospermia/patologia , Biópsia , Brasil , Técnicas Histológicas , Humanos , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/etiologia , Infertilidade Masculina/patologia , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Estudos Retrospectivos , Análise do Sêmen , Síndrome de Células de Sertoli/diagnóstico
5.
Rev. argent. urol. (1990) ; 83(3): 96-101, 2018. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-986327

RESUMO

Objetivos: El propósito de este estudio es evaluar la eficacia de los laboratorios de embriología y de anatomía patológica para hallar espermatozoides en las muestras de tejido testicular obtenido por biopsia testicular (testicular sperm extraction, TESE) en pacientes con azoospermia no obstructiva. Materiales y métodos: Se realizó un análisis retrospectivo y prospectivo de todos los pacientes con azoospermia no obstructiva atendidos en CRECER y en la Clínica Privada Pueyrredón, entre enero de 2006 y diciembre de 2016. En este estudio solo se incluyeron aquellos pacientes en los que la muestra obtenida con TESE fue enviada simultáneamente al anatomopatólogo y al laboratorio de embriología. Para el análisis de los resultados de las biopsias el estudio se detuvo a fines de 2016, pero el seguimiento de los pacientes continuó hasta el mes de octubre de 2017, registrándose todos aquellos casos que realizaron procedimientos de inyección intracitoplasmática de espermatozoides (intracytoplasmic sperm injection, ICSI) con muestras obtenidas de TESE y se anotó la obtención de embriones, embarazos y nacimientos. Resultados: El laboratorio de embriología halló espermatozoides en 36 de los 68 pacientes (52,9%), mientras que el laboratorio de patología solo informó presencia en 21 pacientes (30,88%). Hubo acuerdo en el hallazgo de espermatozoides entre ambos laboratorios en 20 de los 68 casos (29,41%), mientras que en 16 pacientes el laboratorio de embriología encontró espermatozoides donde el de patología no pudo hacerlo (23,53%). Al mismo tiempo, el laboratorio de patología halló espermatozoides solo en un caso en el que el de embriología informó su ausencia para la misma muestra analizada (1,47%) (p=0,0003). Conclusiones: El laboratorio de embriología es significativamente más eficaz para determinar la presencia de espermatozoides en las muestras de TESE, teniendo mejor rendimiento que el de patología, por lo que consideramos que, si las muestras fueran analizadas solo por el patólogo, se perdería la posibilidad de lograr muchos embarazos realizando ICSI más TESE.(AU)


Objectives: The purpose of this study is to evaluate the efficacy of embryology and pathological anatomy laboratories to find spermatozoa in testicular tissue samples obtained by testicular sperm extraction (TESE) in patients with non-obstructive azoospermia. Materials and methods: It was carried out a retrospective and prospective analysis of all the patients with non-obstructive azoospermia treated at CRECER and at Clínica Privada Pueyrredón, between January 2006 and December 2016. This study only includes patients in whom the sample obtained with TESE was sent at the same time to the pathology and embryology laboratory. For the analysis of the results of the biopsies, the study was stopped at the end of 2016, but the follow-up of the patients continued until October 2017, registering all those cases that performed intracytoplasmic sperm injection (ICSI) with samples obtained from TESE and wrote down the patients who´ve got embryos, pregnancies, and births. Results: The embryology laboratory found sperm in 36 of the 68 patients (52.9%), while the pathology laboratory only reported presence in 21 patients (30.88%). There was agreement in the finding of sperm between both laboratories in 20 of the 68 cases (29.41%), while in 16 patients the embryology laboratory found sperm where the pathology department could not do so (23.53%). At the same time, the pathology laboratory found sperm only in one case in which the embryology department reported its absence for the same sample analyzed (1.47%) (p=0.0003). Conclusions: The embryology laboratory is significantly more efficient to determine the presence of sperm in the samples of TESE, having better performance than the pathology one. Taking into account that, we believe that if the samples are only analyzed by the pathologist, the possibility of getting many pregnancies performing ICSI plus TESE would be lost. (AU)


Assuntos
Humanos , Masculino , Testículo/embriologia , Testículo/patologia , Biópsia/métodos , Injeções de Esperma Intracitoplásmicas/métodos , Azoospermia/diagnóstico , Azoospermia/patologia , Recuperação Espermática , Estudos Prospectivos , Estudos Retrospectivos , Pesquisa Comparativa da Efetividade
6.
J Assist Reprod Genet ; 33(10): 1319-1335, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27423664

RESUMO

In recent years, the management of male factor infertility has undergone important changes with the introduction of novel concepts, advanced testing, and therapeutic interventions. This review highlights some of these changes and discusses their impact to routine clinical practice. First, we discuss the recent changes in the World Health Organization (WHO) laboratory methods and reference values for the examination of human semen. Second, we examine the role of sperm chromatin integrity tests in light of increasing evidence of the detrimental effect of sperm DNA fragmentation on reproductive outcomes. Third, we summarize the main findings of varicocele-related infertility and the outcomes of microsurgical varicocele repair to different case scenarios. Lastly, we critically discuss the current management of men with nonobstructive azoospermia seeking fertility and the new opportunities that emerged to help these men achieve biological fatherhood.


Assuntos
Azoospermia/fisiopatologia , Infertilidade Masculina/fisiopatologia , Espermatozoides/patologia , Varicocele/fisiopatologia , Azoospermia/diagnóstico , Cromatina/genética , Humanos , Infertilidade Masculina/diagnóstico , Masculino , Sêmen/fisiologia , Varicocele/diagnóstico , Organização Mundial da Saúde
7.
Int Braz J Urol ; 42(1): 132-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27136479

RESUMO

This study describes a new method of microcentrifugation as an improved, viable, cost-effective option to the classical Cytospin apparatus to confirm azoospermia. Azoospermic semen samples were evaluated for cryptozoospermia by a centrifugation method similar to that of World Health Organization guidelines (2010; entire specimen centrifuged at 3000g for 15 min, and aliquots of the pellet examined). Then, if no sperm were detected, the pellet from that procedure was resuspended in culture medium, centrifuged (2000g for 15 min), and the entire pellet spread on a 4 X 6mm area of a slide and stained using the Christmas tree method (Nuclear-Fast solution and picric acid). The entire stained area was examined for the presence or absence of sperm. A total of 148 azoospermic samples (after standard WHO diagnosis) were included in the study and 21 samples (14.2%) were identified as sperm-positive. In all microcentrifugation slides, intact spermatozoa could be easily visualized against a clear background, with no cellular debris. This novel microcentrifugation technique is clearly a simple and effective method, with lower cost, increasing both sensitivity and specificity in confirming the absence or presence of spermatozoa in the ejaculate. It may represent a step forward of prognostic value to be introduced by andrology laboratories in the routine evaluation of patients with azoospermia in the initial semen analysis.


Assuntos
Azoospermia/diagnóstico , Centrifugação/métodos , Análise do Sêmen/métodos , Adulto , Andrologia/métodos , Análise Custo-Benefício , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Espermatozoides/citologia , Fatores de Tempo
8.
Int. braz. j. urol ; 42(1): 132-138, Jan.-Feb. 2016. graf
Artigo em Inglês | LILACS | ID: lil-777323

RESUMO

ABSTRACT This study describes a new method of microcentrifugation as an improved, viable, cost-effective option to the classical Cytospin apparatus to confirm azoospermia. Azoospermic semen samples were evaluated for cryptozoospermia by a centrifugation method similar to that of World Health Organization guidelines (2010; entire specimen centrifuged at 3000g for 15 min, and aliquots of the pellet examined). Then, if no sperm were detected, the pellet from that procedure was resuspended in culture medium, centrifuged (2000g for 15 min), and the entire pellet spread on a 4 X 6mm area of a slide and stained using the Christmas tree method (Nuclear-Fast solution and picric acid). The entire stained area was examined for the presence or absence of sperm. A total of 148 azoospermic samples (after standard WHO diagnosis) were included in the study and 21 samples (14.2%) were identified as sperm-positive. In all microcentrifugation slides, intact spermatozoa could be easily visualized against a clear background, with no cellular debris. This novel microcentrifugation technique is clearly a simple and effective method, with lower cost, increasing both sensitivity and specificity in confirming the absence or presence of spermatozoa in the ejaculate. It may represent a step forward of prognostic value to be introduced by andrology laboratories in the routine evaluation of patients with azoospermia in the initial semen analysis.


Assuntos
Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Centrifugação/métodos , Azoospermia/diagnóstico , Análise do Sêmen/métodos , Espermatozoides/citologia , Fatores de Tempo , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Análise Custo-Benefício , Andrologia/métodos
9.
Genet Mol Res ; 14(4): 16178-84, 2015 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-26662410

RESUMO

Chromosomal abnormality is the most common genetic cause of male infertility, particularly in cases of azoospermia, oligozoospermia, and recurrent spontaneous abortion. Chromosomal rearrangement may interrupt an important gene or exert position effects. The functionality of genes at specific breakpoints, perhaps with a specific role in spermatogenesis, may be altered by such rearrangements. Structural chromosome abnormalities are furthermore known to increase the risk of pregnancy loss. In this study, we aimed to assess chromosomal defects in infertile men from Jilin Province, China, by genetic screening and to evaluate the relationship between structural chromosome abnormalities and male infertility. The prevalence of chromosomal abnormalities among the study participants (receiving genetic counseling in Jilin Province, China) was 10.55%. The most common chromosome abnormality was Klinefelter syndrome, and the study findings suggested that azoospermia and oligospermia may result from structural chromosomal abnormalities. Chromosome 1 was shown to be most commonly involved in male infertility and balanced chromosomal translocation was identified as one of the causes of recurrent spontaneous abortion. Chromosomes 4, 7, and 10 were the most commonly involved chromosomes in male partners of women experiencing repeated abortion.


Assuntos
Aberrações Cromossômicas , Testes Genéticos , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/genética , Adolescente , Adulto , Azoospermia/diagnóstico , Azoospermia/epidemiologia , Azoospermia/genética , China/epidemiologia , Aconselhamento Genético , Testes Genéticos/métodos , Humanos , Infertilidade Masculina/epidemiologia , Cariótipo , Cariotipagem , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Oligospermia/diagnóstico , Oligospermia/epidemiologia , Oligospermia/genética , Análise do Sêmen , Adulto Jovem
10.
Genet Mol Res ; 14(4): 16041-9, 2015 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-26662397

RESUMO

Male infertility is mostly caused by spermatogenic failure. Currently, routine genetic analyses of unexplained azoospermia or oligozoospermia are limited to the investigation of Y chromosomal microdeletions and chromosome karyotype analyses. The aim of this study was to find spermatogenic failure genes in patients with chromosomal abnormalities and unexplained azoospermia caused by copy number variations in order to provide a theoretical basis for further research. Spermatogenic failure patients consisting of 13 males with chromosomal abnormalities and 20 with unexplained azoospermia were enrolled. The subjects underwent high-throughput genome-wide sequencing to find copy number variants (CNVs), and the results were analyzed using the Database of Genomic Variants, Online Mendelian Inheritance in Man database, and PubMed. The results showed that 16 CNVs were detected in 11 patients with chromosome abnormalities, and 26 CNVs were found in 16 males with azoospermia. Our data showed CNV-involved loci including: three times on 11p11.12 and 14q11.2 and twice on 6p21.32, 13q11, 15q11.11, 16p12.2, and 21q22.3. Some CNVs may involve changes in genetic structure and function or gene mutations, which may affect gene expression in testicular tissues and lead to spermatogenic failure. The involved genes include EDDM3A, EDDM3B, HLA-DRB1, HLA-DQA1, POTE B, GOLGA8C, DNMT3L, ALF, NPHP1, NRG1, RID2, ADAMTS20, TWF1, COX10, MAK, and DNEL1. By applying high throughput genome-wide sequencing to determine CNVs, we provide a number of candidate genes possibly contributing to spermatogenic failure.


Assuntos
Azoospermia/genética , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Infertilidade Masculina/genética , Espermatogênese/genética , Adulto , Azoospermia/diagnóstico , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Y , Estudos de Associação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Infertilidade Masculina/diagnóstico , Masculino , Fenótipo , Análise do Sêmen , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual , Adulto Jovem
11.
Genet Mol Res ; 14(4): 14488-95, 2015 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-26600507

RESUMO

Y chromosomal microdeletions at the azoospermia factor locus and chromosome abnormalities have been implicated as the major causes of idiopathic male infertility. A marker chromosome is a structurally abnormal chromosome in which no part can be identified by cytogenetics. In this study, to identify the origin of the marker chromosomes and to perform a genetic diagnosis of patients with azoospermia, two-color fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques were carried out. The marker chromosomes for the two patients with azoospermia originated in the Y chromosome; it was ascertained that the karyotype of both patients was 46,X, ish del(Y)(q11)(DYZ3+, DXZ1-). The combination of two-color FISH and PCR techniques is an important method for the identification of the origin of marker chromosomes. Thus, genetic counseling and a clear genetic diagnosis of patients with azoospermia before intracytoplasmic sperm injection or other clinical managements are important.


Assuntos
Azoospermia/diagnóstico , Aberrações Cromossômicas , Hibridização in Situ Fluorescente , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Azoospermia/genética , Azoospermia/patologia , Deleção Cromossômica , Cromossomos Humanos Y/genética , Humanos , Infertilidade Masculina , Cariótipo , Masculino , Reação em Cadeia da Polimerase , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia
12.
Urology ; 86(3): 448-9, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26364166
13.
Urology ; 86(3): 449, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26364167
14.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;73(3): 187-193, 03/2015. tab
Artigo em Inglês | LILACS | ID: lil-741204

RESUMO

Gait variability is related to functional decline in the elderly. The dual-task Timed Up and Go Test (TUG-DT) reflects the performance in daily activities. Objective To evaluate the differences in time to perform the TUG with and without DT in elderly women with different ages and levels of education and physical activity. Method Ninety-two elderly women perfomed the TUG at usual and fast speeds, with and without motor and cognitive DT. Results Increases in the time to perform the TUG-DT were observed at older ages and lower educational levels, but not at different levels of physical activity. More educated women performed the test faster with and without DT at both speeds. When age was considered, significant differences were found only for the TUG-DT at both speeds. Conclusion Younger women with higher education levels demonstrated better performances on the TUG-DT. .


Alterações da marcha são indícios de declínio funcional em idosos. O TUG com dupla tarefa (TUG-DT) reflete o desempenho das atividades do cotidiano. Objetivo Avaliar as diferenças no tempo de execução do TUG com e sem DT em idosas com diferentes faixas etárias, e níveis de escolaridade e atividade física. Método Noventa e duas idosas foram avaliadas pelo TUG nas velocidades usual e máxima, sem e com DT cognitiva e motora. Resultados Houve aumento no tempo de execução do TUG-DT em idosas com maior faixa etária e menor escolaridade, mas não para diferentes níveis de atividade física. Aquelas com maior escolaridade realizaram o teste mais rápido com e sem DT nas duas velocidades. Com relação à faixa etária, foram obervadas diferenças apenas nos testes com DT nas duas velocidades. Conclusão Idosas mais jovens com maior escolaridade demonstraram um melhor desempenho no TUG com DT. .


Assuntos
Adolescente , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Azoospermia/diagnóstico , Hormônio Foliculoestimulante/sangue , Inibinas/sangue , Espermatogênese , Testículo/fisiologia , Azoospermia/sangue , Infertilidade Masculina/sangue , Infertilidade Masculina/diagnóstico , Oligospermia
15.
Asian J Androl ; 17(3): 459-70, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25677138

RESUMO

The clinical management of men with nonobstructive azoospermia (NOA) seeking fertility has been a challenge for andrologists, urologists, and reproductive medicine specialists alike. This review presents a personal perspective on the clinical management of NOA, including the lessons learned over 15 years dealing with this male infertility condition. A five-consecutive-step algorithm is proposed to manage such patients. First, a differential diagnosis of azoospermia is made to confirm/establish that NOA is due to spermatogenic failure. Second, genetic testing is carried out not only to detect the males in whom NOA is caused by microdeletions of the long arm of the Y chromosome, but also to counsel the affected patients about their chances of having success in sperm retrieval. Third, it is determined whether any intervention prior to a surgical retrieval attempt may be used to increase sperm production. Fourth, the most effective and efficient retrieval method is selected to search for testicular sperm. Lastly, state-of-art laboratory techniques are applied in the handling of retrieved gametes and cultivating the embryos resulting from sperm injections. A coordinated multidisciplinary effort is key to offer the best possible chance of achieving a biological offspring to males with NOA.


Assuntos
Algoritmos , Azoospermia/complicações , Azoospermia/terapia , Gerenciamento Clínico , Infertilidade Masculina/etiologia , Infertilidade Masculina/terapia , Azoospermia/diagnóstico , Biópsia , Criopreservação , Diagnóstico Diferencial , Testes Genéticos , Humanos , Masculino , Seleção de Pacientes , Injeções de Esperma Intracitoplásmicas , Recuperação Espermática , Testículo/patologia
16.
Genet Mol Res ; 14(4): 18792-8, 2015 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-26782529

RESUMO

Balanced chromosomal translocations in men can cause failure of spermatogenesis owing to meiotic impairment. Male carriers may exhibit normozoospermia, although clinical manifestations can include oligozoospermia or azoospermia, oligozoospermia or normozoospermia. Here, we reported the characteristics of balanced reciprocal translocations in men from northeastern China, and explored the relationship between sperm count and reproductive performance, to enable informed genetic counseling. The frequency of balanced reciprocal translocations was found to be 1.62%. Semen analysis showed that 5.9% of male carriers had azoospermia, 43.1% had oligozoospermia, and 51.0% had normozoospermia. Of the 25 men with a balanced reciprocal translocation and azoospermia or oligozoospermia, chromosome 1 was the most commonly often involved in the translocation. However, in the 26 normozoospermic men with a balanced reciprocal translocation and normozoospermia, chromosome 3 was most commonly implicated. Fifty percent of men with a balanced reciprocal translocation conceived a pregnancy that went to term. Our data suggest that of all chromosomes, chromosomes 1 and 3 are the most commonly involved chromosomes in balanced reciprocal such translocations in northeastern Chinese men. Karyotype analysis should be performed for men with azoospermia, oligozoospermia, and those in couples having suffered recurrent miscarriages. Natural conception should be discussed during genetic counseling for male carriers of balanced chromosomal translocations with normozoospermia.


Assuntos
Azoospermia/genética , Aconselhamento Genético , Heterozigoto , Oligospermia/genética , Reprodução/genética , Translocação Genética , Adulto , Azoospermia/diagnóstico , Azoospermia/patologia , China , Segregação de Cromossomos , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 3 , Feminino , Aptidão Genética , Humanos , Cariotipagem , Masculino , Oligospermia/diagnóstico , Oligospermia/patologia , Gravidez , Análise do Sêmen , Contagem de Espermatozoides , Espermatogênese/genética , Espermatozoides/metabolismo , Espermatozoides/patologia
17.
Reprod. clim ; 30(2): 67-69, maio-ago. 2015. ilus
Artigo em Português | LILACS | ID: biblio-973026

RESUMO

A azoospermia é definida como a ausência de espermatozoide no líquido seminal ejaculado pelo homem depois de aplicada a técnica de centrifugação em pelo menos duas amostras. Dada a importância de um diagnóstico correto da análise seminal para os casais, toda amostra que não apresentar espermatozoides no exame a fresco deve seguir em avaliação laboratorial. Com isso, o presente estudo tem como objetivo analisar os resultados de centrifugação de uma alíquota do sêmen ejaculado ou de todo o volume ejaculado de pacientes com diagnóstico de azoospermia para determinar qual o melhor método a ser empregado na análise seminal para esse grupo de pacientes.


The azoospermia is defined as the absence of sperm in the ejaculate by the seminal fluid man after centrifugation technique conducted in at least two samples. Given the importance of a correct diagnosis of the seminal analysis for couples, all sample no sperm present in fresh examination should follow in laboratory tests. Thus the present study aims to analyze the results of a spin rate of ejaculate or all of the ejaculate volume of patients with azoospermia to determine the best method to be used in semen analysis for this group of patients.


Assuntos
Masculino , Humanos , Azoospermia/diagnóstico , Análise do Sêmen/métodos , Centrifugação/métodos
18.
Clinics (Sao Paulo) ; 68 Suppl 1: 1-4, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23503949

RESUMO

This special issue is fully dedicated to the topic of azoospermia and contains the seminal work of renowned scientists and clinicians from seven countries on three continents. In seventeen chapters, a comprehensive review of the epidemiology, genetics, physiopathology, diagnosis, and management of azoospermia addresses our current knowledge on the topic. The clinical results of assisted reproductive techniques applied to this category of male infertility and the health of offspring originating from such fathers are critically analyzed. In addition, the challenges and the future biotechnological perspectives for the treatment of azoospermic males seeking fertility are discussed.


Assuntos
Azoospermia , Técnicas de Reprodução Assistida , Azoospermia/diagnóstico , Azoospermia/etiologia , Azoospermia/terapia , Humanos , Masculino
19.
Clinics (Sao Paulo) ; 68 Suppl 1: 27-34, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23503952

RESUMO

Approximately 1% of all men in the general population suffer from azoospermia, and azoospermic men constitute approximately 10 to 15% of all infertile men. Thus, this group of patients represents a significant population in the field of male infertility. A thorough medical history, physical examination and hormonal profile are essential in the evaluation of azoospermic males. Imaging studies, a genetic workup and a testicular biopsy (with cryopreservation) may augment the workup and evaluation. Men with nonobstructive azoospermia should be offered genetic counseling before their spermatozoa are used for assisted reproductive techniques. This article provides a contemporary review of the evaluation of the azoospermic male.


Assuntos
Azoospermia/diagnóstico , Azoospermia/genética , Biópsia , Humanos , Masculino , Oligospermia/diagnóstico , Técnicas de Reprodução Assistida , Contagem de Espermatozoides
20.
Clinics (Sao Paulo) ; 68 Suppl 1: 35-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23503953

RESUMO

Azoospermia is a descriptive term referring to ejaculates that lack spermatozoa without implying a specific underlying cause. The traditional definition of azoospermia is ambiguous, which has ramifications on the diagnostic criteria. This issue is further compounded by the apparent overlap between the definitions of oligospermia and azoospermia. The reliable diagnosis of the absence of spermatozoa in a semen sample is an important criterion not only for diagnosing male infertility but also for ascertaining the success of a vasectomy and for determining the efficacy of hormonal contraception. There appears to be different levels of rigor in diagnosing azoospermia in different clinical situations, which highlights the conflict between scientific research and clinical practice in defining azoospermia.


Assuntos
Azoospermia/diagnóstico , Oligospermia/diagnóstico , Análise do Sêmen , Centrifugação , Humanos , Masculino
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