RESUMO
Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as having oligozoospermia or azoospermia, and there is an association between balanced translocation and recurrent abortion. Researchers have reported the involvement of chromosome 4 translocations in male factor infertility and recurrent miscarriages. A translocation breakpoint might interrupt the structure of an important gene, and it is associated with reproductive failure. However, the clinical characteristics of the breakpoints in chromosome 4 translocations have not been studied. Here, we report the breakpoints in chromosome 4 translocation and the clinical features presented in carriers to enable informed genetic counseling of these patients. Of 82 patients with balanced reciprocal translocations, 14 were carriers of the chromosome 4 translocation: four presented with pregestational infertility (clinical manifestations: oligozoospermia, severe oligozoospermia, or azoospermia), whereas 10 presented with gestational infertility (able to conceive but with a tendency to miscarry). The breakpoint at 4q12 was associated with pregestational infertility, whereas the breakpoints at 4q13, 4q21, 4q25, and 4q32 were associated with gestational infertility. However, the breakpoint at 4q35 was associated with both pregestational and gestational infertility. Chromosome 4 translocation carriers with pregestational or gestational infertility should be counseled on chromosomal breakpoints and the different technologies available to assist reproduction.
Assuntos
Aborto Espontâneo/genética , Azoospermia/genética , Pontos de Quebra do Cromossomo , Cromossomos Humanos Par 4/genética , Oligospermia/genética , Feminino , Aconselhamento Genético , Heterozigoto , Humanos , Masculino , Gravidez , Translocação GenéticaRESUMO
Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in male infertility and recurrent miscarriage. A translocation breakpoint can occur within an important gene, interrupting its structure and leading to male infertility. However, clinical characteristics resulting from chromosome 7 translocation breakpoints have not been studied. Here, we report such breakpoints and their associated clinical features, to enable informed genetic counseling of carriers. Balanced reciprocal translocations were found in 1.57% of the tested patients. Among these 82 individuals, 14 (17.07%) carried a chromosome 7 translocation, of which, five presented with pregestational infertility and clinical manifestations of oligozoospermia or necrospermia, while nine presented with gestational infertility (i.e., were able to conceive, but often resulting in miscarriage). Breakpoints at 7q31 and 7q36 were associated with pregestational infertility, whereas those at 7p10, 7q21.2, 7q22, and 7q32 were connected to gestational infertility. However, the breakpoint at 7p15 was associated with both. Chromosome 7 translocation carriers with pregestational or gestational infertility should be counseled on chromosomal breakpoints and the various molecular technologies available for assisted reproduction.
Assuntos
Quebra Cromossômica , Cromossomos Humanos Par 7/genética , Aconselhamento Genético , Translocação Genética , Heterozigoto , Humanos , Cariotipagem , MasculinoRESUMO
Reciprocal translocation is closely associated with male infertility and recurrent miscarriages. Balanced reciprocal translocations associated with reproductive failures are predominantly observed on chromosome 1. Additionally, infertile male patients present a number of breakpoints throughout chromosome 1. A translocation breakpoint might interrupt the structure of an important gene, leading to male infertility. Here, we report the breakpoints on chromosome 1 translocation and the clinical features presented in carriers, to enable informed genetic counseling of these patients. Balanced reciprocal translocations were found in 1.57% of the tested patients. Among 82 patients, 23 patients (28.05%) were carriers of the chromosome 1 translocation: 12 presented pre-gestational infertility with clinical manifestations of azoospermia or oligozoospermia, while 11 patients presented gestational infertility (able to conceive but with a tendency to miscarry or give birth to a stillborn). The breakpoint at 1p22 was predominantly observed in these patients; additionally, breakpoints at 1p31.2, 1p10, and 1q25 were associated with gestational infertility. Breakpoints at 1p13, 1q12, and 1q21 were associated with pre-gestational infertility. These results suggested that breakpoints at 1p32, 1p13, and 1q21 were predominantly associated with pre-gestational infertility, while that at 1q25 was associated with gestational infertility. Chromosome 1 translocation carriers with infertility presenting as azoospermia or oligospermia should be counseled on chromosomal breakpoints and the different molecular technologies available to facilitate reproduction.
Assuntos
Cromossomos Humanos Par 1/genética , Aconselhamento Genético , Translocação Genética , Quebra Cromossômica , Heterozigoto , Humanos , Infertilidade Masculina/genética , Cariótipo , MasculinoRESUMO
Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remains a challenge. Here, we report the characteristics of chromosomal reciprocal translocation in 3807 amniocentesis cases. Of the 16 detected cases of fetal reciprocal translocation, 8 cases (50%) showed positive biochemical marker screening; 3 cases (18.75%) were the parental carriers of a chromosomal abnormality; 2 (12.5%) were of advanced maternal age, 2 (12.5%) had a previous history of children with genetic disorders, and 1 case (6.25%) was associated with positive soft markers in obstetric ultrasound. Chromosomes 5 and 19 were the most commonly involved chromosomes in balanced translocations. Of the 13 cases with fetal balanced translocations, 8 (61.5%) were inherited from a paternal chromosome, 3 (23.1%) from a maternal chromosome, and 2 (15.4%) cases were de novo. The incidence of balanced translocation at amniocentesis was 0.42%. Male carriers of reciprocal chromosome translocation appear to have a higher chance of becoming a parent of a child born by normal childbirth than female carriers.
Assuntos
Transtornos Cromossômicos/diagnóstico , Adulto , Amniocentese , Aberrações Cromossômicas , Feminino , Aconselhamento Genético , Humanos , Gravidez , Translocação Genética , Adulto JovemRESUMO
The 11q terminal deletion disorder is a rare genetic disorder associated with numerous clinical features. A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20.5-Mb deletion at chromosome 11q13.4q21, as confirmed by array comparative genomic hybridization. Dysmorphic features such as coarse facial features, congenital laryngomalacia, oblique inguinal hernia, high-arched palate, and camptodactyly were observed in the subject. The present case broadens the spectrum of clinical findings observed in individuals with 11q interstitial deletion.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 11 , Síndrome da Deleção Distal 11q de Jacobsen/genética , Cariótipo Anormal , Anormalidades Múltiplas/genética , Hibridização Genômica Comparativa , Humanos , Recém-Nascido , Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico , Masculino , FenótipoRESUMO
The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue cultures of 2500 second-trimester amniotic fluid samples. The most common indication for genetic AS was abnormal maternal serum-screening test (69.56%), followed by advanced maternal age (15.04%). Chromosomal abnormality was detected in 206 (8.24%) of the 2500 samples. The detection rate of abnormal karyotypes was 62.5% in the group in which one member of the couple was a carrier of a chromosome abnormality; in the group having a positive result from noninvasive prenatal testing, the frequency was 50%. To determine the origin of fetal chromosome abnormal karyotype, 45 fetuses were analyzed. Of these, 20 were found to be de novo abnormalities and 25 were familial. The frequency and proportion of abnormal karyotypes varied substantially across different maternal AS indications. Knowing the origin and type of chromosomal abnormality would help determine termination or continuation of the pregnancy.
Assuntos
Amniocentese , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Citogenética , Diagnóstico Pré-Natal , Cariótipo Anormal , Adulto , Amniocentese/métodos , China/epidemiologia , Aberrações Cromossômicas , Transtornos Cromossômicos/epidemiologia , Citogenética/métodos , Feminino , Humanos , Incidência , Masculino , Gravidez , Resultado da Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal/métodos , Estudos RetrospectivosRESUMO
The aim of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and to provide a basis for clinical diagnosis and therapy in Northeast China. A total of 144 spontaneously aborted fetuses were analyzed by FISH to test for chromosome number and to recall couples for peripheral blood karyotype analysis. The rate of abnormal chorionic villus chromosomes was 35.42%. Villus chromosome abnormality rate of the first spontaneous abortion and repeated abortions were 40.54 and 33.64%, respectively (P < 0.05). The rate of chromosome abnormality in women with advanced maternal age and women younger than 35 years old were 46.43 and 32.76%, respectively (P < 0.05). In a recall of 112 couples for peripheral blood karyotype analysis, just 3 cases of 7 patients with peripheral blood chromosome abnormality showed abnormal FISH results in their abortion villi. Fetal chromosome number abnormality is a major cause of early abortion, and parental chromosomal abnormality is not the main factor in abnormal fetal karyotype. A complete evaluation and special treatment should be provided to couples with a history of recurrent miscarriage.
Assuntos
Cariótipo Anormal , Aborto Espontâneo/genética , Linhagem , Adulto , Amostra da Vilosidade Coriônica , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , GravidezRESUMO
The aim of this study was to evaluate the correlation between chromosomal polymorphisms and male infertility. The patients were diagnosed with azoospermia or oligospermiaby a semen analysis. Chromosomal analysis was performed on peripheral blood lymphocytes obtained from the patients, with standard G-banding and C-banding. Y chromosome microdeletions were detected by multiplex polymerase chain reaction (PCR) amplification. The parents of 35 polymorphic probands were also subjected to chromosomal analysis, and their detailed reproductive histories were surveyed. The frequency of autosomal polymorphisms did not differ significantly among the infertile patients and fertile control individuals. The frequency of the Yqh-variant increased with the decrease in sperm count; this appeared at a significantly higher frequency in the azoospermia group (57.2 vs 24.3 vs 0%). The results of PCR amplification indicated that 32.14% of the patients with Yqh ± had microdeletions in the Y chromosome. The parents of the probands with the same chromosomal polymorphisms as the probands (among the 35 recalled families) did not show any adverse reproductive history. We observed no significant correlations between autosomal polymorphisms and male infertility. However, we observed a significant increase in the frequency of Yqh- in the azoospermic patients. This may be attributed to Y chromosome microdeletions, although the association between Y chromosome microdeletions and Y chromosome variants remains to be elucidated.
Assuntos
Povo Asiático/genética , Infertilidade Masculina/genética , Polimorfismo Genético , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Azoospermia/genética , Estudos de Casos e Controles , China , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Y/genética , Feminino , Humanos , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/epidemiologia , Cariótipo , Masculino , Oligospermia/genética , Linhagem , Reação em Cadeia da Polimerase , Prevalência , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia , Contagem de EspermatozoidesRESUMO
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 JovemRESUMO
We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman's husband had a normal male karyotype and was phenotypically normal. During this first pregnancy, an amniocentesis, which was done at 19 weeks, revealed that the fetal karyotype was 46,XX, t(17; 22) (q21; q11). Fluorescence in situ hybridization testing of amniotic fluid gave a normal result for chromosome 21. The child was a phenotypically normal female baby.
Assuntos
Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 22/genética , Síndrome de Down/genética , Padrões de Herança/genética , Mães , Núcleo Familiar , Translocação Genética , Adulto , Líquido Amniótico/citologia , Bandeamento Cromossômico , Feminino , Humanos , Cariotipagem , FenótipoRESUMO
The prevalence of Y chromosome microdeletions among azoospermic, severe oligozoospermic, moderate oligozoospermic, and mild oligozoospermic patients with varicocele-related and idiopathic infertility shows conflicting data in Asian countries. We aimed to detect this frequency in Northeast China, and investigated spermatogenic defects whether associated with varicocele or Y chromosome microdeletions. All samples underwent a thorough physical examination, semen analysis, and PCR analyses for Y chromosome microdeletions. We randomly selected 150 infertile non-obstructive azoospermic patients with left varicocele (Group 1), 150 idiopathic non-obstructive azoospermic infertility patients (Group 2), 150 infertile severe oligozoospermic patients with left varicocele (Group 3), 150 idiopathic severe oligozoospermic infertility patients (Group 4), 150 infertile moderate oligozoospermic patients with left varicocele (Group 5), 150 idiopathic moderate oligozoospermic infertility patients (Group 6), 150 infertile mild oligozoospermic patients with left varicocele (Group 7), 150 idiopathic mild oligozoospermic infertility patients (Group 8), and 60 healthy unrelated men with proven fertility were recruited as control subjects (Group 9). We observed that our samples from Northeastern China had a higher frequency of microdeletions among the non-obstructive azoospermic individuals with varicocele, as compared with other Asian countries. Furthermore, the spermatogenic defect is due to the underlying Y chromosome microdeletion, and not the varicocele itself. Although varicocele is not the cause of male infertility, it may be associated with male infertility in the Northeastern Chinese population.
Assuntos
Cromossomos Humanos Y/genética , Infertilidade Masculina/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Varicocele/genética , Adulto , Azoospermia/genética , Azoospermia/patologia , China , Deleção Cromossômica , Humanos , Infertilidade Masculina/patologia , Masculino , Pessoa de Meia-Idade , Oligospermia/genética , Oligospermia/patologia , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia , Espermatogênese/genética , Varicocele/complicações , Varicocele/patologiaRESUMO
A reciprocal translocation between the short arm of chromosome 1 and the long arm of chromosome 3 was observed in a pedigree of three carriers (proband, and his brother and mother). In this study, the three carriers had different clinical manifestations: the proband with infertility, his brother with spousal miscarriages, and his mother with no adverse reproductive history. Cytogenetic analysis of metaphase chromosomes was performed, and triple-color fluorescence in situ hybridization was applied to the detection of aneuploidy sperm related to the interchromosomal effect (ICE). An increase of aneuploidy of chromosome 21 in the proband and aneuploidy of chromosomes 13, 21, and Y in the brother were observed. Since patients with reciprocal translocations and spermatogenetic impairment are candidates, with their partners, for intracytoplasmic sperm injection, the study of the level of sperm aneuploidy rates would provide useful information for couples at risk, as well as contributing to a better understanding of the ICE.
Assuntos
Aneuploidia , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 3 , Infertilidade Masculina/genética , Espermatozoides/metabolismo , Translocação Genética , Adulto , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 21 , Cromossomos Humanos Y , Análise Citogenética , Feminino , Aconselhamento Genético , Heterozigoto , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Linhagem , Espermatozoides/patologiaRESUMO
Y chromosome microdeletions can cause male infertility and are classified as natural transmission and de novo mutations. To examine the source of these deletions in Chinese men and to provide a theoretical and laboratory basis for genetic counseling, patients from Northeast China with primary male infertility (N = 22) and their fathers were investigated. Karyotype analysis was performed on peripheral blood lymphocytes using standard G-banding. Multiplex polymerase chain reaction amplification using 18 specific sequence-tagged sites was selected to detect Y chromosome microdeletions. De novo mutations were observed in 17 father-son pairs, leading to a mutation rate of 77.27% (17/22), while the vertical transmission of Yq AZFc microdeletions was detected in 5 cases of the families investigated (29.41%, 5/17). There were no statistically significant differences between vertically transmitted and de novo mutations in men with AZFc deletions regarding age, testicular volume, and reproductive hormone levels. Most Y chromosome microdeletions in men from Northeast China are the result of de novo mutations via natural conception, and men with Yq AZFc deletions showed no clear differences between vertical transmission and de novo mutations.
Assuntos
Povo Asiático/genética , Infertilidade Masculina/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , China , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Y/genética , Deleção de Genes , Humanos , Cariótipo , Cariotipagem , Masculino , Linhagem , Análise de Sequência de DNA , Sitios de Sequências Rotuladas , Aberrações dos Cromossomos SexuaisRESUMO
Although it is known that parental carriers of structural chromosomal rearrangements are associated with recurrent pregnancy loss, subsequent natural pregnancies remain possible. We examined the reproductive outcome of a familial balanced translocation with t(3;6)(q12;q27). Karyotyping of the proband revealed 46,XY chromosomes with the balanced translocation t(3;6). The first 2 pregnancies resulted in spontaneous abortions. Based on the proband karyotype, his father and half-brother were subjected to cytogenetic analysis, and both showed 46,XY, t(3;6)(q12;q27). After genetic counseling, the proband chose to continue the pregnancy. During the third pregnancy, the subject gave birth to a normal male infant. For parental carriers with balanced chromosomal translocations, natural pregnancy should be considered during genetic counseling.
Assuntos
Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 6/genética , Translocação Genética , Aborto Habitual , Adulto , Bandeamento Cromossômico , Saúde da Família , Feminino , Aconselhamento Genético , Humanos , Recém-Nascido , Cariótipo , Cariotipagem , Masculino , Linhagem , Gravidez , Resultado da GravidezRESUMO
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/patologiaRESUMO
A 23-year-old woman who had experienced repeated stillbirths, was found to carry an additional segment on the long arm of the X chromosome. Array comparative genomic hybridization (aCGH) confirmed the origin of the 2 duplications (about 17.11 Mb). Thus, her karyotype was 46, X, dup (X) (q13.2-q21.1), dup(X) (q21.32-q22.1). We demonstrate that aCGH is a useful complementary tool to cytogenetic analysis for accurately determining banding. To our knowledge, this is the first case with normal apparently phenotype who inherited 2 duplications on Xq. Notably, after 2 stillbirths, she bore a healthy, normal female infant via natural pregnancy. Thus, a carrier of this karyotype can birth a phenotypically normal child.
Assuntos
Duplicação Cromossômica , Cromossomos Humanos X , Hibridização Genômica Comparativa/métodos , Aberrações dos Cromossomos Sexuais , Feminino , Triagem de Portadores Genéticos , Humanos , Masculino , Fenótipo , Natimorto , Adulto JovemRESUMO
Successful sperm retrieval from ejaculates of nonmosaic Klinefelter's syndrome (KS) patients by using semen cytology examination was described in this report. The clinical parameters of KS patients with sperm compared to patients without sperm were described. One hundred and fifty-one patients were proven to suffer from KS by chromosomal analysis using G-banding. Spermatozoa were obtained from 10 patients (10/151, 6.6%) using semen analysis. After semen cytology examination, 32 patients (32/151, 21.2%) were found to have sperm or germ cell in their ejaculate. The patients with successful sperm retrieval were significantly younger (27.1 ± 3.7 years) than the patients for whom sperm retrieval failed (28.9 ± 4.2 years). The mean serum testosterone level and the mean T/LH ratio of KS patients with successful sperm retrieval were significantly higher in men with sperm than in men without sperm (testosterone: 3.2 ± 2.1 ng/mL vs 2.7 ± 1.5 ng/mL; T/LH ratio: 0.2 ± 0.3 vs 0.1 ± 0.1). In conclusion, semen cytology examination should be performed to identify sperm and germ cells in the ejaculate of KS patients if no sperm can be detected by traditional semen analysis. The serum testosterone level and T/LH ratio revealed an association between impaired Leydig cell function and impaired spermatogenesis in KS males. KS patients should receive earlier diagnosis and treatment.
Assuntos
Síndrome de Klinefelter/genética , Sêmen , Testículo/patologia , Adulto , Azoospermia/genética , Humanos , Síndrome de Klinefelter/patologia , Masculino , Mosaicismo , Recuperação Espermática , Espermatogênese/genética , Testículo/crescimento & desenvolvimentoRESUMO
The subsequent reproductive outcomes in couples with a history of recurrent pregnancy loss (RPL) associated with chromosome abnormalities or polymorphisms are generally not reported in China. Many RPL carrier couples have decided not to have children. The present study recorded the subsequent delivery, miscarriage, and unpregnancy outcomes of 113 RPL carrier couples and 226 non-carrier couples, and compared differences in reproductive outcomes between couples with different types of chromosome abnormalities or polymorphisms and chromosome normal couples. Our results showed that couples with RPL associated with parental chromosome abnormalities or polymorphisms did not have significantly lower live birth rates than non-carrier couples in China. These results suggest the current guidance given to Chinese RPL couples.
Assuntos
Aborto Habitual/genética , Aberrações Cromossômicas , Polimorfismo Genético , Reprodução/genética , Aborto Habitual/etiologia , Aborto Habitual/patologia , Adulto , China , Feminino , Humanos , Cariotipagem , Masculino , Idade Materna , Pessoa de Meia-Idade , GravidezRESUMO
The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.
Assuntos
Infertilidade Masculina/epidemiologia , Infertilidade Masculina/etiologia , Cariótipo Anormal , Azoospermia/epidemiologia , Azoospermia/etiologia , China/epidemiologia , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Y , Humanos , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/genética , MasculinoRESUMO
We investigated the frequency and types of Y-chromosome microdeletions and chromosomal anomalies in non-obstructive azoospermic and severely oligozoospermic infertile males in northeastern China. The sample consisted of 519 infertile males (456 azoospermic, 63 severely oligozoospermic). PCR assays for Y-chromosome microdeletions and chromosome analysis were performed on all patients and controls. Array-comparative genomic hybridization was performed for three patients with chromosomal anomalies. Fifty-nine of 519 patients (11.37%) had Y-chromosome microdeletions. Microdeletions were found in 11.18% (51/456) of the non-obstructive azoospermic patients and in 12.7% (8/63) of the severely oligozoospermic patients. Eleven of 51 non-obstructive azoospermic patients with Y-chromosome microdeletions had multiple segmental deletions in the AZFb+c regions; four of these patients had chromosomal anomalies. Our sample from northeastern China had a higher frequency of microdeletions among severely oligozoospermic than among non-obstructive azoospermic males.