Neurogenetic aspects in men with Klinefelter’s syndrome
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RACOVIȚĂ, Stela, MOSHIN, Veaceslav, HADJIU, Svetlana, REVENCO, Ninel, CĂLCÎI, Cornelia, CUZNETZ, Ludmila, GRÎU, Corina, FEGHIU, Ludmila, LUPUŞOR, Nadejda, SPRINCEAN, Mariana. Neurogenetic aspects in men with Klinefelter’s syndrome. In: 7th Congress of the Society of Neurologists Issue of the Republic of Moldova, Ed. 7, 16-18 septembrie 2021, Chişinău. Chişinău: Revista Curier Medical, 2021, Vol.64, p. 55. ISSN 2537-6381 (Online).
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7th Congress of the Society of Neurologists Issue of the Republic of Moldova
Vol.64, 2021
Congresul "7th Congress of the Society of Neurologists Issue of the Republic of Moldova"
7, Chişinău, Moldova, 16-18 septembrie 2021

Neurogenetic aspects in men with Klinefelter’s syndrome

CZU: [616.697+616.69-008.6]:575.2

Pag. 55-55

Racoviță Stela1, Moshin Veaceslav2, Hadjiu Svetlana12, Revenco Ninel12, Călcîi Cornelia12, Cuznetz Ludmila1, Grîu Corina1, Feghiu Ludmila13, Lupuşor Nadejda12, Sprincean Mariana12
 
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 Institute of Mother and Child,
3 Emergency Institute of Medicine
 
 
Disponibil în IBN: 28 septembrie 2021


Rezumat

Background: 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 pheno

Cuvinte-cheie
Klinefelter’s syndrome, cytogenetic, neurologic, phenotype