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SM ISO690:2012 RACOVIȚĂ, Stela, MOŞIN, Veaceslav, HADJIU, Svetlana, MIŞINA, Ana, SPRINCEAN, Mariana. Aspecte neurogenetice la bărbații infertili cu sindromul Klinefelter. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 550. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Background. Klinefelter’s syndrome (KS) is the most common genetic cause of human male infertility asosieted with azoospemia in 10-15%. KS is due to the presence of one or more supernumerary X chromosomes. Most genes from the extra X undergo inactivation, but some escape and play a role in klinefelter pathogen. Objective of the study. to study the neurological and cytogenetic peculiarities of KS in infertile men in order to initiate measures to improve their quality of life. Material and Method. the study was performed on 110 men with infertility, selected during medical genetic counseling, having as selection criteria, lack of sperm in the ejaculate, elevated values of FSH and LH, the following phenotypic aspects: hypospadias, small testes, cryptorchidism, waist high and disproportionate, hypogonadism, gynecomastia, mental retardation, psychosocial problems. Results. The most common chromosomal abnormality diagnosed in the 33 patients with KS was homogeneous free trisomy 47,XXY (30 cases - 90.9%), followed by the forms: mosaic (47,XXY /46,XY: 1 case), polysomy X-Y (variant 48,XXYY: 1 case - and 49,XXXXY: 1 case). In most patients with variant 47,XXY the classical and mosaic form showed a mild to moderate mental retardation, language disorders with cognitive-verbal retardation, slow motor development, coordination disorders, immature behavior. In patients with variants 48,XXYY and 49,XXXXY, were ascertained moderate to severe mental retardation, severe cognitive-verbal retardation, behavioral problems. Conclusion. The diagnosis of the cytogenetic variant in patients with KS is of neurological importance, as the severity of the neurodevelopmental phenotype in subjects with KS is directly proportional to the number of the supernumerary X chromosome. |
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Cuvinte-cheie behavioral aspects, 47, XXY, infertility, karyotype, aspecte comportamentale, 47, XXY, infertilitate, cariotip |
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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-126587</cfResPublId> <cfResPublDate>2020</cfResPublDate> <cfStartPage>550</cfStartPage> <cfISBN></cfISBN> <cfURI>https://ibn.idsi.md/ro/vizualizare_articol/126587</cfURI> <cfTitle cfLangCode='RO' cfTrans='o'>Aspecte neurogenetice la bărbații infertili cu sindromul Klinefelter</cfTitle> <cfKeyw cfLangCode='RO' cfTrans='o'>behavioral aspects; 47; XXY; infertility; karyotype; aspecte comportamentale; 47; XXY; infertilitate; cariotip</cfKeyw> <cfAbstr cfLangCode='EN' cfTrans='o'><p>Background. Klinefelter’s syndrome (KS) is the most common genetic cause of human male infertility asosieted with azoospemia in 10-15%. KS is due to the presence of one or more supernumerary X chromosomes. Most genes from the extra X undergo inactivation, but some escape and play a role in klinefelter pathogen. Objective of the study. to study the neurological and cytogenetic peculiarities of KS in infertile men in order to initiate measures to improve their quality of life. Material and Method. the study was performed on 110 men with infertility, selected during medical genetic counseling, having as selection criteria, lack of sperm in the ejaculate, elevated values of FSH and LH, the following phenotypic aspects: hypospadias, small testes, cryptorchidism, waist high and disproportionate, hypogonadism, gynecomastia, mental retardation, psychosocial problems. Results. The most common chromosomal abnormality diagnosed in the 33 patients with KS was homogeneous free trisomy 47,XXY (30 cases - 90.9%), followed by the forms: mosaic (47,XXY /46,XY: 1 case), polysomy X-Y (variant 48,XXYY: 1 case - and 49,XXXXY: 1 case). In most patients with variant 47,XXY the classical and mosaic form showed a mild to moderate mental retardation, language disorders with cognitive-verbal retardation, slow motor development, coordination disorders, immature behavior. In patients with variants 48,XXYY and 49,XXXXY, were ascertained moderate to severe mental retardation, severe cognitive-verbal retardation, behavioral problems. Conclusion. The diagnosis of the cytogenetic variant in patients with KS is of neurological importance, as the severity of the neurodevelopmental phenotype in subjects with KS is directly proportional to the number of the supernumerary X chromosome.</p></cfAbstr> <cfAbstr cfLangCode='RO' cfTrans='o'><p>Introducere. Sindromul Klinefelter (SK) este cea mai frecventă cauză genetică a infertilității masculine, asociată cu azoospermie în 10-15%. SK este cauzat de prezența a unuia sau a mai multor cromozomi Xsupranumerari. Majoritatea genelor din cromozomul X-sulpimentar sunt inactivate, dar unele scapă procesului și joacă un rol în agentul patogen klinefelter. Scopul lucrării. Studerea particularităţilor neurologice şi citogenetice ale SK la bărbații infertili pentru iniţierea unor măsuri de ameliorare a calității vieții acestora. Material și Metode. Studiul a fost efectuat pe 110 bărbați cu infertilitate, selectaţi în cadrul consultului medico-genetic, având drept criterii de selecţie, lipsa spermatozoizilor în ejaculat, valori crescute de FSH și LH, următoarele aspecte fenotipice: hipospadias, testiculi mici, criptorhidism, talie înaltă şi disproporţională, hipogonadism, ginecomastie, retard mental, tulburări de comportament. Rezultate. Cea mai frecventă anomalie cromozomială diagnosticată la cei 33 de pacienţi cu SK a fost trisomia liberă omogenă 47,XXY (30 cazuri - 90,9%), urmată de formele: mozaică (47,XXY/46,XY: 1 caz), polisomiile X-Y (varianta 48,XXYY: 1 caz – şi 49,XXXXY: 1 caz). La majoritatea pacienților cu varianta 47,XXY forma clasică și mozaică, s-a atestat un retard mental uşor spre moderat, tulburări de limbaj cu retard cognitiv verbal, dezvoltarea motorie lentă, dereglări de coordonare, comportament imatur. La pacienții cu varianta 48, XXYY și 49, XXXXY s-a constatat retardul mental moderat spre sever, retardul cognitiv verbal sever, problemele de comportament, cu punerea în pericol a vieții proprii. Concluzii. Diagnosticarea variantei citogenetice la pacienții cu SK prezintă o importanță din punct de vedere neurologic, întrucât severitatea fenotipului de neurodezvoltare la subiecții cu SK este direct proporțională cu numărul cromozomului X-supranumerar</p></cfAbstr> <cfResPubl_Class> <cfClassId>eda2d9e9-34c5-11e1-b86c-0800200c9a66</cfClassId> <cfClassSchemeId>759af938-34ae-11e1-b86c-0800200c9a66</cfClassSchemeId> <cfStartDate>2020T24:00:00</cfStartDate> </cfResPubl_Class> <cfResPubl_Class> <cfClassId>e601872f-4b7e-4d88-929f-7df027b226c9</cfClassId> <cfClassSchemeId>40e90e2f-446d-460a-98e5-5dce57550c48</cfClassSchemeId> <cfStartDate>2020T24:00:00</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>2020T24:00:00</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>2020T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-11167</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2020T24:00:00</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>2020T24:00:00</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>2020T24:00:00</cfStartDate> </cfPers_ResPubl> </cfResPubl> <cfPers> <cfPersId>ibn-Pers-57694</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-57694-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2020T24:00:00</cfStartDate> <cfFamilyNames>Racoviță</cfFamilyNames> <cfFirstNames>Stela</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-11765</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-11765-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2020T24:00:00</cfStartDate> <cfFamilyNames>Moshin</cfFamilyNames> <cfFirstNames>Veaceslav</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-11167</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-11167-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2020T24:00:00</cfStartDate> <cfFamilyNames>Hadjiu</cfFamilyNames> <cfFirstNames>Svetlana</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-16045</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-16045-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2020T24:00:00</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-12053-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2020T24:00:00</cfStartDate> <cfFamilyNames>Sprincean</cfFamilyNames> <cfFirstNames>Mariana</cfFirstNames> </cfPersName_Pers> </cfPers> </CERIF>