45,x/46,xy la bărbat cu infertilitate: raport de caz clinic
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616.699:575.18 (1)
Patologia sistemului urogenital. Boli urinare şi sexuale (genitale) (368)
Genetică generală. Citogenetică generală (426)
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RACOVIȚĂ, Stela, SPRINCEAN, Mariana, MOŞIN, Veaceslav, CAPCELEA, Svetlana, HADJIU, Svetlana, REVENCO, Ninel. 45,x/46,xy la bărbat cu infertilitate: raport de caz clinic. In: Managementul interdisciplinar al copilului, Ed. Ediţia a 5-a, 13 mai 2022, Chişinău. Chişinău: Tipografia Taicom, 2022, Ediţia a 5-a, pp. 145-149. ISBN 978-9975-58-274-2.
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Managementul interdisciplinar al copilului
Ediţia a 5-a, 2022
Conferința "Managementul interdisciplinar al copilului"
Ediţia a 5-a, Chişinău, Moldova, 13 mai 2022

45,x/46,xy la bărbat cu infertilitate: raport de caz clinic

45, x/46, xy in men with infertility: clinical case report

CZU: 616.699:575.18

Pag. 145-149

Racoviță Stela1, Sprincean Mariana12, Moşin Veaceslav1, Capcelea Svetlana1, Hadjiu Svetlana12, Revenco Ninel21
 
1 Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“,
2 IMSP Institutul Mamei şi Copiluluii
 
Disponibil în IBN: 10 ianuarie 2023


Rezumat

Introducere. Mozaicismul 45,X/46,XY este o aneuploidie rar întâlnită 1/15.000 de nou-născuți și se produce cel mai frecvent prin pierderea postzigotică a unui cromozom Y în timpul mitozei care asigură dezvoltarea embrionară tim-purie. Scopul: Evaluarea clinico-genetică a bărbaților cu spermograma sever afectată pentru diagnosticul etiologic al cazurilor de infertilitate. Material și metode. În cadrul consultului medico-genetic a fost evaluat un bărbat de 46 de ani, căsătorit, cu un istoric de 15 ani de infertilitate. Conform rezultatelor examenului materialului seminal, repetat, a pre-zentat azoospermie. Au fost examinați markerii endocrini: nivelurile de Testosteron; Estradiol; Hormonul Luteinizant [LH]; Hormonul Foliculostimulant [FSH]. Cariotiparea a fost efectuată pe limfocite din sângele periferic prin metoda citogenetică conform metodei standard G. Interpretarea rezultatelor s-a realizat conform nomenclaturii, International System for Human Cytogenetic Nomenclature din anul 2016. Rezultate. Examenul fizic al pacientului a scos în evidență fenotipul pacientului normal masculin, o statură de 158 cm, prezența testiculelor bilateral, hipogonadism. Rezultatele analizei markerilor endocrini au arătat o scădere a FSH, LH, în timp ce concentrația testosteronului seric s-au înscris în limitele normale. Conform examinării citogenetice, a fost identificat un cariotip 45,X/46,XY (mozaicism cromo-zomial), având 2 linii celulare distincte: celule cu 45 de cromozomi, având un singur cromozom X în perechea de cromozomi sexuali (monosomie X - 45,X), în 3 celule analizate (20%); celule cu 46 de cromozomi (46,XY), în 12 celule analizate (80%). Concluzie. Pacientul cu mozaicism 45,X/46,XY ce prezintă fenotip aparent normal masculin reprezintă un subgrup rar al acestor anomalii cromozomiale. În majoritatea cazurilor acești pacienți sunt diagnosticați tardiv în timpul examenului citogenetic la bărbații cu azoospermie sau oligozoospermie datorită infertilității. Consultul medico-genetic minuțios este important pentru diagnosticul etiologic al cazurilor de infertilitate masculină.

Introduction. 45,X/46,XY mosaicism is an aneuploidy rarely found in 1/15.000 newborns and most often occurs through the post-zygotic loss of a Y chromosome during mitosis - which ensures early embryonic development. The Purpose: Clinical-genetic evaluation of men with severely affected spermiogram for the etiological diagnosis of infertility cases. Material and methods. A 46-year-old man with a 15-year history of infertility was evaluated in the medical-genetic consulting. According to the semen analysis he presented azoospermia. 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. The interpretation of the results was done according to the nomenclature of International System for Human Cytogenetic Nomenclature, from 2016. Results. According to the physical examination, the patient’s phenotype was normally male, he reported a stature of 158 cm, the presence of bilateral testicles, hypogonadism. Endocrine marker results showed a decrease in FSH, LH, while se-rum testosterone levels were within normal limits. According to the cytogenetic examination, an abnormal karyotype 45,X/46,XY (chromosomal mosaicism) was identified, having 2 distinct cell lines: a cell line with 45 chromosomes, having a single X chromosome in the pair of sex chromosomes (monosomy X - 45, X), in 3 cells analyzed (20%); a normal male cell line with 46 chromosomes (46, XY) in 12 cells analyzed (80%). Conclution. Patient with mosaicism 45,X/46,XY with a normal male phenotype are a rare subgroup of this karyotype. In most cases, these patients are diagnosed late during cytogenetic examination in men with azoospermia or oligozoospermia due to infertility. Careful medical-genetic consultation is important for the etiological diagnosis of cases of male infertility.

Cuvinte-cheie
bărbat, infertilitate, 45, X/46, XY, cariotip, mozaic,

man, infertility, 45, X / 46, XY, karyotype, mosaic

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