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575:616.69-021-07 (1) |
Genetică generală. Citogenetică generală (427) |
Patologia sistemului urogenital. Boli urinare şi sexuale (genitale) (392) |
SM ISO690:2012 RACOVIȚĂ, Stela, MOŞIN, Veaceslav, HADJIU, Svetlana, PONEATENCO, Dumitru, REVENCO, Ninel, SPRINCEAN, Mariana. Sindromul 47, XYY asociat cu infertilitatea masculină: raport de caz clinic. In: Buletin de Perinatologie, 2020, nr. 1(86), pp. 112-115. ISSN 1810-5289. |
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Buletin de Perinatologie | ||||||
Numărul 1(86) / 2020 / ISSN 1810-5289 | ||||||
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CZU: 575:616.69-021-07 | ||||||
Pag. 112-115 | ||||||
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Introduction: Th e XYY syndrome is a sex chromosome aneuploidy that is found in one of 1.000 live male births in the general population, but more frequently in infertile men. Th is syndrome is associated with varying phenotype and diff erent degrees of infertility. Th e Purpose: To confi rm the importance of the clinic-cytogenetic evaluation in men with severely aff ected spermiogram, for the etiological diagnosis of male infertility. Materials and methods: A 36-year-old man with a 10-year history of infertility was evaluated in the medical-genetic consulting. According to the semen analysis he presented oligoasthenoteratozoospermia. Hormone levels testosterone, estradiol, luteinizing hormone [LH], follicle stimulating hormone [FSH], were measured. Karyotyping was performed on peripheral blood lymphocytes by cytogenetic method according to standard method G. Rezults: Physical examination revealed tall stature with elevated body mass index. Th e results of endocrine markers showed a slight increase in FSH, while LH, estradiol, serum testosterone concentration were in the normal range. According to the cytogenetic examination, the patient presented a karyotype 47,XYY, without evidence of mosaicism, structural or numerical chromosomal abnormalities. Conclution: Due to the variable phenotype and the lack of specifi c clinical manifestations, identifi cation and diagnosis of men with 47,XYY syndrome may be diffi cult. Careful medical-genetic consulting is important for the etiological diagnosis of this patients with infertility. |
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Cuvinte-cheie male infertility, 47, XYY, karyotype, G banding, мужское бесплодие, 47, XYY, кариотип, методика G |
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