Chromosomal defects in infertile men with poor semen quality

Ghorbel, Myriam; Baklouti, Siwar Gargouri; Abdallah, Ferjani Ben; Zribi, Nacira; Cherif, Mariem; Keskes, Rim; Chakroun, N.; Sellami, Afifa; Belguith, Neila; Kamoun, Hassen; Fakhfakh, Faïza; Ammar-Keskes, Leila

doi:10.1007/s10815-012-9737-7

Cited by 38 publications

(31 citation statements)

References 42 publications

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“…Various numerical and structural chromosome abnormalities were identified in 19.48% of infertile Tunisian men with poor semen quality (Ghorbel et al, 2012) and chromosome analysis revealed major chromosome abnormalities in 10.2% of infertile men in the Indian population (Kate et al, 2014). Karyotype abnormalities were identified in 7.2% of infertile males in Turkey (Cavkaytar et al, 2012) and the total prevalence of chromosomal abnormalities was found to be 4.3% (5/115) in Isparta (South of Turkey) (Kosar et al, 2010).…”

Section: Discussionmentioning

confidence: 97%

“…Ghorbel et al (2012) reported that Klinefelter syndrome accounts for 66.7% of cytogenetic defects and Amouri et al (2014) furthermore reported that of 52 patients with abnormal cytogenetic results, Klinefelter syndrome was observed in 71% of patients. In this study, Klinefelter syndrome was observed in 51.4% (180/350) of the chromosomal abnormality cases.…”

Section: Discussionmentioning

confidence: 99%

“…The rate of chromosomal abnormality in infertile men is 2.1-19.48% (Yatsenko et al, 2010;Fu et al, 2012;Ghorbel et al, 2012;Quan et al, 2013;Ananthapur et al, 2014;Kate et al, 2014). Chromosomal defects may decrease male fertility and increase the history of female adverse fertility outcomes, e.g., recurrent spontaneous abortion or stillbirth.…”

Section: Introductionmentioning

confidence: 99%

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Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

Zhang¹,

Ht²,

Qs³

et al. 2015

Genet. Mol. Res.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

Zhang¹,

Ht²,

Qs³

et al. 2015

Genet. Mol. Res.

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“…Many studies have documented the chromosomal abnormalities which range from 2.2-15.7% for infertile men (Azimi et al, 2012). In our The most common type of karyotype abnormality in infertile case is represented by Klinefelter's syndrome and Y chromosome long arm micro-deletions represent the most frequent chromosomal structural abnormalities (Ravel et al, 2011;Ghorbel et al, 2012;Maiburg et al, 2012). In this study, all patients with abnormal karyotype presented true Klinefelter syndrome.…”

Section: Discussionmentioning

confidence: 60%

Male Infertility and Cytogenetic Disorders: A Cross-Sectional Study

Belmokhtar¹,

Belmokhtar²,

Kerfouf³

2015

J. of Medical Sciences

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Infertility is a very common health problem. In this study, the relationship between cytogenetic disorders, semen parameters and reproductive hormone levels of infertile men from Western region of Algeria, Tlemcen, was evaluated. A total of 27 infertile males were studied for the cytogenetic evaluation. Also, 12 fertile males as a control group were studied. Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Semen analysis and endocrine evaluation were carried out. The prevalence of abnormal chromosomal karyotype in the patients with abnormal sperm parameters was 11.11%. The most frequent cause was Klinefelter's syndrome (03/27). The levels of testosterone (T) in patient group were significantly lower than those of fertile group (p<0.0001). In addition, the levels of FollicleStimulating Hormone (FSH) (p<0.0001), and Luteinizing Hormone (LH) (p<0.0001) were significantly higher in patients than those in the fertile group. The same results of hormone levels were found when compared the patients with normal and abnormal karyotype. Cytogenetic disorders have severe adverse of sperm concentration and reproductive hormone levels. These findings suggest the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.

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“…Entonces, es necesario recurrir a metodologías complementarias que permitan seleccionar el material genético a amplificar, como es el caso de los marcadores específicos del cromosoma y. En general, los casos que involucren individuos de sexo masculino serán susceptibles de análisis con marcadores de cromosoma y, dado que las células masculinas tienen este cromosoma, a excepción de casos muy particulares en los que hay alteraciones cromosómicas [1,2].…”

Section: Introductionunclassified

Efecto de la microdeleción en la región AZF sobre marcadores forenses del cromosoma Y

Laverde-Angarita

Agudelo-Hincapie

Páez-Vila

2015

CFJ

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Cómo citar este artículo: Agudelo-Hincapié N, Laverde-Angarita LJ, Páez-Vila AL. Efecto de la microdeleción en la región azf sobre marcadores forenses del cromosoma y. Colomb. Forense. 2015;2(1):75-85. doi: http://dx.doi.org/10. 16925/ cf.v3i1.1173 Resumen. Tema y alcance: el objetivo de esta revisión es conocer los estudios que se han hecho en el mundo sobre las microdeleciones del cromosoma y y sus posibles efectos en los resultados genético-forenses observados. Características: la infertilidad originada en el cromosoma y, por lo general, es causada por deleciones del material genético en las zonas relacionadas con el factor de azoospermia (azf), localizadas en tres regiones del yq contiguas: azfa, azfb y azfc. Hallazgos: se ha comprobado que algunos de los str utilizados rutinariamente en el laboratorio de genética forense con kits múltiplex están localizados en estas regiones, lo cual permite evidenciar la existencia de microdeleciones en algunos loci. Aumentar el conocimiento de los eventos microestructurales dentro del cromosoma y puede ser de utilidad para una mejor caracterización de los patrones anormales repetitivos que complican la interpretación del perfil de adn. Conclusiones: la variación en estudios poblacionales de prevalencia de microdeleciones puede deberse a diferencias en la selección de los pacientes, al tamaño muestral y a la técnica usada. Los casos reportados concluyen que los loci afectados generalmente son dys385 y dys392, indican microdeleciones en la región azfb y dys448 está relacionado con microdeleciones en la región azfc.Palabras clave: factor de azoospermia (azf), microdeleciones, str-y.

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Chromosomal defects in infertile men with poor semen quality

Abstract: The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.

Cited by 38 publications

References 42 publications

Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

Male Infertility and Cytogenetic Disorders: A Cross-Sectional Study

Efecto de la microdeleción en la región AZF sobre marcadores forenses del cromosoma Y

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