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Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome.
Iran J Public Health. 2016 Jun; 45(6):739-47.IJ

Abstract

BACKGROUND

In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyotype analysis in Algerian infertile men, using peripheral blood lymphocytes.

METHODS

A cytogenetic study was conducted on 10 men from infertile couples by Karyotype analysis of R-banding performed by lymphocyte culture technique. Fluorescence in situ hybridization was performed and molecular abnormalities were investigated by polymerase chain reaction. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) levels were evaluated by immunoradiometric method.

RESULTS

Chromosomal abnormalities were observed in 30% of the patients. We identified a homogenous Klinefelter syndrome patient with 47, XXY karyotype, a mosaic Klinefelter syndrome patient with 47, XXY/46, XY karyotype and a 46, XX male. Fluorescence in situ hybridization showed that the sex-determining region Y was translocated to the short arm of the X chromosome in patient with 46, XX chromosomal constitution and the presence of the SRY gene was confirmed by polymerase chain reaction and electrophoresis.

CONCLUSION

The occurrence of chromosomal abnormalities in 30% of the infertile men strongly supports the inclusion of routine cytogenetic testing for diagnostic establishment and suitable counseling for couples seeking for assisted reproduction technologies.

Authors+Show Affiliations

L.B.P.O/Section Endocrinology, Faculty of Biological Sciences, University of Sciences and Technology Houari Boumedienne, BP 32, EL ALIA, Bab-Ezzouar, Algiers, Algeria.L.B.P.O/Section Endocrinology, Faculty of Biological Sciences, University of Sciences and Technology Houari Boumedienne, BP 32, EL ALIA, Bab-Ezzouar, Algiers, Algeria.Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.Feconde Clinic El Bordj, Bordj-El Kiffan, Algiers, Algeria.Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.Department of Medical Genetics, National Institute of Health, Rabat, Morocco.Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco; Department of Medical Genetics, National Institute of Health, Rabat, Morocco.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

27648416

Citation

Baziz, Meriem, et al. "Cytogenetic Investigation in a Group of Ten Infertile Men With Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome." Iranian Journal of Public Health, vol. 45, no. 6, 2016, pp. 739-47.
Baziz M, Hamouli-Said Z, Ratbi I, et al. Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome. Iran J Public Health. 2016;45(6):739-47.
Baziz, M., Hamouli-Said, Z., Ratbi, I., Habel, M., Guaoua, S., Sbiti, A., & Sefiani, A. (2016). Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome. Iranian Journal of Public Health, 45(6), 739-47.
Baziz M, et al. Cytogenetic Investigation in a Group of Ten Infertile Men With Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome. Iran J Public Health. 2016;45(6):739-47. PubMed PMID: 27648416.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome. AU - Baziz,Meriem, AU - Hamouli-Said,Zohra, AU - Ratbi,Ilham, AU - Habel,Mohamed, AU - Guaoua,Soukaina, AU - Sbiti,Aziza, AU - Sefiani,Abdelaziz, PY - 2016/9/21/entrez PY - 2016/9/21/pubmed PY - 2016/9/21/medline KW - Azoospermia KW - Cytogenetic KW - Male infertility KW - Severe oligozoospermia SP - 739 EP - 47 JF - Iranian journal of public health JO - Iran. J. Public Health VL - 45 IS - 6 N2 - BACKGROUND: In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyotype analysis in Algerian infertile men, using peripheral blood lymphocytes. METHODS: A cytogenetic study was conducted on 10 men from infertile couples by Karyotype analysis of R-banding performed by lymphocyte culture technique. Fluorescence in situ hybridization was performed and molecular abnormalities were investigated by polymerase chain reaction. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) levels were evaluated by immunoradiometric method. RESULTS: Chromosomal abnormalities were observed in 30% of the patients. We identified a homogenous Klinefelter syndrome patient with 47, XXY karyotype, a mosaic Klinefelter syndrome patient with 47, XXY/46, XY karyotype and a 46, XX male. Fluorescence in situ hybridization showed that the sex-determining region Y was translocated to the short arm of the X chromosome in patient with 46, XX chromosomal constitution and the presence of the SRY gene was confirmed by polymerase chain reaction and electrophoresis. CONCLUSION: The occurrence of chromosomal abnormalities in 30% of the infertile men strongly supports the inclusion of routine cytogenetic testing for diagnostic establishment and suitable counseling for couples seeking for assisted reproduction technologies. SN - 2251-6085 UR - https://www.unboundmedicine.com/medline/citation/27648416/Cytogenetic_Investigation_in_a_Group_of_Ten_Infertile_Men_with_Non_Obstructive_Azoospermia:_First_Algerian_46_XX_Syndrome_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/27648416/ DB - PRIME DP - Unbound Medicine ER -
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