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Ultima descărcare din IBN: 2023-10-18 17:12 |
Căutarea după subiecte similare conform CZU |
616.697+575.18 (1) |
Patologia sistemului urogenital. Boli urinare şi sexuale (genitale) (368) |
Genetică generală. Citogenetică generală (426) |
SM ISO690:2012 RACOVIȚĂ, Stela, MOSHIN, Veaceslav, CAPCELEA, Svetlana, SPRINCEAN, Mariana. Clinical and genetic evaluation in male infertility. In: Revista de Ştiinţe ale Sănătăţii din Moldova, 2022, nr. 3 An.1(29), p. 12. ISSN 2345-1467. |
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Revista de Ştiinţe ale Sănătăţii din Moldova | |||||
Numărul 3 An.1(29) / 2022 / ISSN 2345-1467 | |||||
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CZU: 616.697+575.18 | |||||
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Background. Worldwide, it has been estimated that about 10–15% of couples attempting to conceive are infertile, with male factors contributing to 50% of such cases. Genetic causes play an important role with incidence of 2–8% in infertile men, increasing to 20% in men with azoospermia. Objective of the study: Evaluation of chromosomal variations, Y chromosome microdeletions and mutations in the CFTR (Cystic fibrosis transmembrane conductance regulator) gene in infertile men. Material and Methods: 88 men with azoospermia were evaluated endocrine markers FSH, LH and testosterone. Cytogenetic G-banding technique was performed for evaluation of karyotype. The genomic DNA was isolated and used for the analysis of AZF microdeletons and mutations in the CFTR gene by the PCR technique. The AZFα regions (sY84, sY86, DBY1, sY620), AZFb (sY117, sY127, sY134, SY143), and AZFc (sY254, sY255, sY153, SY158) were analyzed. ΔF508 and G542X were tested for the CFTR gene. Results: The mean age of azoospermic men facing couple infertility in the entire sample (n = 88) was 33,8 ± 5,3 years. The total mean of FSH was 8,7 ± 8,3 mIU / ml, LH 8,6 ± 6,7 mIU/ml and testosterone 3,1 ±1,3 ng/ml. Genetic variations were confirmed in 27 patients (30,6%), including: 16 (18,2%) cases chromosomal abnormalities, in 9 (10,2%) the Y chromosome microdeletions of the AZF region and 2 (2,3%) men were diagnosed as carriers of mutations in the CFTR - ΔF508 gene. Conclusions: The high incidence of genetic variation (30.6%) diagnosed in men with azoospermia, demonstrates the importance of clinical-genetic evaluation of couples with male infertility associated with severely affected spermiogram. |
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Cuvinte-cheie Male, infertility, karyotype, Y Chromosome, CFTR gene, masculin, infertilitate, cariotip, cromozomul Y, gena CFTR |
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