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Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12710/18158
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dc.contributor.authorRacovita, Stela
dc.contributor.authorHadjiu, Svetlana
dc.contributor.authorRevenco, Ninel
dc.contributor.authorCalcii, Cornelia
dc.contributor.authorCuznet, Ludmila
dc.contributor.authorGriu, Corina
dc.contributor.authorFeghiu, Ludmila
dc.contributor.authorLupușor, Nadejda
dc.contributor.authorSprincean, Mariana
dc.date.accessioned2021-10-15T19:05:06Z
dc.date.available2021-10-15T19:05:06Z
dc.date.issued2021
dc.identifier.citationRACOVITA, Stela, HADJIU, Svetlana, REVENCO, Ninel, CALCII, Cornelia, CUZNET, Ludmila, et al. Neurogenetic aspects in men with Klinefelter’s syndrome. In: The Moldovan Medical Journal. 2021, vol. 64, no 3 (Neuro Congress Issue), p. 55. ISSN 2537-6381.
dc.identifier.issn2537-6373
dc.identifier.issn2537-6381
dc.identifier.urihttp://moldmedjournal.md/wp-content/uploads/2021/09/Congres-Neuro-2021-Spaltul-11.pdf
dc.identifier.urihttp://repository.usmf.md/handle/20.500.12710/18158
dc.description.abstractBackground: Klinefelter’s syndrome (KS) is the presence of one or more supernumerary X chromosomes. The aim was the investigation of the cytogenetic variant in men with KS, for the assessment of neurological phenotypes. Material and methods: Were investigated 98 men with infertility, having as selection criteria, lack of sperm in the ejaculate, elevated values of Follicle-stimulating hormone (FSH), Luteinizing Hormone (LH), and the following phenotypic aspects: small testes, hypogonadism, cryptorchidism, waist high and disproportionate, gynecomastia, mental retardation, psychosocial problems. Karyotyping was performed according to standard methods G-banding. Results: The most common cytogenetic variant diagnosed in 25 (25.5%; [95 CI 21.1 – 29.9], p = 0.05) patients with SK was homogeneous free trisomy 47, XXY (22 cases – 88%), followed by: mosaic form (47, XXY / 46, XY: 1 case), polysomies X – Y variants (48, XXYY and 49, XXXXY: 2 cases). In the patients with variant 47, XXY the classical and mosaic forms showed a mild to moderate mental retardation (36.0%; [95 CI 26.4 – 45.6], p = 0.05), language disorders with cognitive-verbal retardation (48.0%; [95 CI 38.01 – 57.99], p = 0.05), slow motor development (20.0%; [95 CI 12.0 – 28.0], p = 0.05), coordination disorders (8.0%; [95 CI 2.57 – 13.43], p = 0.05), immature behavior (60.0%; [95 CI 50.2 – 69.8], p = 0.05). In patients with variants 48, XXYY and 49, XXXXY, moderate to severe mental retardation (50.0%; [95 CI 14.64 – 85.36], p = 0.05), severe cognitive-verbal retardation (50.0%; [95 CI 14.64 – 85.36], p = 0.05), behavioral problems and life-threatening problems were found in 100%. Conclusions: The cytogenetic variant of KS depends on the number of supernumerary X chromosomes, being determinant in the characteristic of neurological phenotypes.en_US
dc.language.isoenen_US
dc.publisherThe Scientific Medical Association of the Republic of Moldovaen_US
dc.relation.ispartofThe Moldovan Medical Journalen_US
dc.subjectKlinefelter’s syndromeen_US
dc.subjectcytogeneticen_US
dc.subjectneurologicen_US
dc.subjectphenotypeen_US
dc.titleNeurogenetic aspects in men with Klinefelter’s syndromeen_US
dc.typeOtheren_US
Appears in Collections:The Moldovan Medical Journal, Vol. 64, No 3, September 2021

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