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SM ISO690:2012 RACOVIȚĂ, Stela, MOSHIN, Veaceslav, CAPCELEA, Svetlana, MISHINA, Anna, SPRINCEAN, Mariana. Clinical and genetic study in male infertility with azoospermia. In: Cercetarea în biomedicină și sănătate: calitate, excelență și performanță, Ed. 1, 20-22 octombrie 2021, Chişinău. Chișinău, Republica Moldova: 2021, p. 393. ISBN 978-9975-82-223-7 (PDF).. |
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Cercetarea în biomedicină și sănătate: calitate, excelență și performanță 2021 | ||||||
Conferința "Cercetarea în biomedicină și sănătate: calitate, excelență și performanță" 1, Chişinău, Moldova, 20-22 octombrie 2021 | ||||||
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Pag. 393-393 | ||||||
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Rezumat | ||||||
Background. Worldwide, it has been estimated that about 7% of all men experience infertility. About 20% of the causes of male infertility are of genetic etiology. The most common genetic causes reported are chromosomal abnormalities and Y chromosome microdeletions. Objective of the study. Clinical-genetic evaluation of patients with azoospermia to establish their diagnosis and treatment. Material and Methods. 96 men with azoospemiawere investigated by cytogenetic classical G-banding technique. 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. Of 96 cases of men with azoospermia, 35 (36.4%) showed genetic variations and 61 (63.6%) without changes. In the 35 patients, in 24 (25%) cases chromosomal abnormalities were found, in 10 (9.6%) patients the microdeletions of the Y chromosome in the AZF region, of which in 8 cases they presented normal karyotype 46,XY and in 2 cases variations in karyotype. In 3 (3.1%) men were diagnosed as carriers of mutations in the CFTR - ΔF508 gene; for calculating the risk of recurrence in offspring were also investigated their wives, who were homozygous. Conclusion. Clinical-genetic evaluation of couples with male infertility associated with azoospermia is necessary, not only for the correct establishment of the diagnosis but also for their treatment. |
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Cuvinte-cheie infertility, azoospermia, karyotype, Y Chromosome, infertilitate, azoospermie, cariotip, cromozomul Y |
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Cerif XML Export
<?xml version='1.0' encoding='utf-8'?> <CERIF xmlns='urn:xmlns:org:eurocris:cerif-1.5-1' xsi:schemaLocation='urn:xmlns:org:eurocris:cerif-1.5-1 http://www.eurocris.org/Uploads/Web%20pages/CERIF-1.5/CERIF_1.5_1.xsd' xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' release='1.5' date='2012-10-07' sourceDatabase='Output Profile'> <cfResPubl> <cfResPublId>ibn-ResPubl-144980</cfResPublId> <cfResPublDate>2021</cfResPublDate> <cfStartPage>393</cfStartPage> <cfISBN>978-9975-82-223-7 (PDF).</cfISBN> <cfURI>https://ibn.idsi.md/ro/vizualizare_articol/144980</cfURI> <cfTitle cfLangCode='EN' cfTrans='o'>Clinical and genetic study in male infertility with azoospermia</cfTitle> <cfKeyw cfLangCode='EN' cfTrans='o'>infertility; azoospermia; karyotype; Y Chromosome; infertilitate; azoospermie; cariotip; cromozomul Y</cfKeyw> <cfAbstr cfLangCode='EN' cfTrans='o'><p>Background. Worldwide, it has been estimated that about 7% of all men experience infertility. About 20% of the causes of male infertility are of genetic etiology. The most common genetic causes reported are chromosomal abnormalities and Y chromosome microdeletions. Objective of the study. Clinical-genetic evaluation of patients with azoospermia to establish their diagnosis and treatment. Material and Methods. 96 men with azoospemiawere investigated by cytogenetic classical G-banding technique. 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. Of 96 cases of men with azoospermia, 35 (36.4%) showed genetic variations and 61 (63.6%) without changes. In the 35 patients, in 24 (25%) cases chromosomal abnormalities were found, in 10 (9.6%) patients the microdeletions of the Y chromosome in the AZF region, of which in 8 cases they presented normal karyotype 46,XY and in 2 cases variations in karyotype. In 3 (3.1%) men were diagnosed as carriers of mutations in the CFTR - ΔF508 gene; for calculating the risk of recurrence in offspring were also investigated their wives, who were homozygous. Conclusion. Clinical-genetic evaluation of couples with male infertility associated with azoospermia is necessary, not only for the correct establishment of the diagnosis but also for their treatment.</p></cfAbstr> <cfAbstr cfLangCode='RO' cfTrans='o'><p>Introducere. La nivel mondial s-a estimat că circa 7% dintre toți bărbații se confruntă cu infertilitate. Aproximativ 20% dintre cauzele infertilității masculine sunt de etiologie genetică. Cele mai frecvente cauze genetice raportate fiind anomaliile cromozomiale și microdelețiile cromozomului Y. Scopul lucrării. Studierea variațiilor cromozomiale, microdelețiilor cromozomului Y și a mutațiilor la nivelul genei CFTR (Cystic fibrosis transmembrane conductance regulator) la bărbații cu azoospermie. Material și metode. 96 de bărbați cu azoospemie au fost investigați citogenetic, prin tehnica clasică de marcaj G. ADN-ul genomic a fost izolat pentru analiza microdeleților Y și a mutațiilor în gena CFTR, prin tehnica PCR. Au fost analizate regiunile AZFa (sY84, sY86, DBY1, sY620), AZFb (sY117, sY127, sY134, SY143) și AZFc (sY254, sY255, sY153, SY158). Pentru CFTR au fost testate ΔF508 și G542X. Rezultate. Din 96 de cazuri de bărbați cu azoospermie, 35 (36.4%) au prezentat modificări genetice și 61 (63.6%) fără modificări. La cei 35 de pacienți, în 24 (25%) de cazuri s-au găsit anomalii cromozomiale, la 10 (9.6%) pacienți microdeleții ale cromozomului Y în regiunea AZF, dintre care în 8 cazuri au prezentat cariotip normal 46,XY și în 2 cazuri variații în cariotip. Iar 3 (3.1%) bărbați au fost diagnosticați ca purtători ai mutației în gena CFTR - ΔF508; pentru calcularea riscului de recurență la descendenți au fost, de asemenea, investigate soțiile lor, care au fost homozigote. Concluzii. Evaluarea clinico-genetică a cuplurilor cu infertilitate masculină asociată cu azoospermie este necesară, nu doar pentru stabilirea corectă a diagnosticului, dar și pentru tratamentul acestora.</p></cfAbstr> <cfResPubl_Class> <cfClassId>eda2d9e9-34c5-11e1-b86c-0800200c9a66</cfClassId> <cfClassSchemeId>759af938-34ae-11e1-b86c-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfResPubl_Class> <cfResPubl_Class> <cfClassId>e601872f-4b7e-4d88-929f-7df027b226c9</cfClassId> <cfClassSchemeId>40e90e2f-446d-460a-98e5-5dce57550c48</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfResPubl_Class> <cfPers_ResPubl> <cfPersId>ibn-person-57694</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-11765</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-1181</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-16045</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-12053</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfPers_ResPubl> </cfResPubl> <cfPers> <cfPersId>ibn-Pers-57694</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-57694-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Racoviță</cfFamilyNames> <cfFirstNames>Stela</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-11765</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-11765-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Moshin</cfFamilyNames> <cfFirstNames>Veaceslav</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-1181</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-1181-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Capcelea</cfFamilyNames> <cfFirstNames>Svetlana</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-16045</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-16045-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Mishina</cfFamilyNames> <cfFirstNames>Anna</cfFirstNames> <cfFamilyNames>Мишина</cfFamilyNames> <cfFirstNames>Анна</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-12053</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-12053-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Sprincean</cfFamilyNames> <cfFirstNames>Mariana</cfFirstNames> </cfPersName_Pers> </cfPers> </CERIF>