Genetic aspects of azoospermia and severe oligozoospermia in Greek infertile men

Evgeni Evangelini, Georgios Lymberopoulos, Charalambos Asvestis

Abstract


The study was conducted to investigate the genetic aspects of severely infertile Greek men, presenting azoospermia and severe oligozoospermia, before the application of assisted reproductive methods. The patients were submitted to a comprehensive work - up with emphasis on the examination for Yq chromosome microdeletions, karyotypic anomalies and mutations of the CFTR (Cystic Fibrosis Transmembrane Regulator conductance) gene. The overall incidence of genetic abnormalities reached 25%, with a prevalence of karyotypic anomalies (16%). The incidence of Yq microdeletions (AZFb and AZFc) (3%) and CFTR (6%) was found relatively low. The severely infertile Greek men examined exhibited a high prevalence of genetic anomalies, indicating the importance of comprehensive genetic testing and appropriate counselling prior to their therapeutic management.

 

Σκοπός της παρούσας μελέτης ήταν η διερεύνηση γενετικών ανωμαλιών σε έναν Ελληνικό πληθυσμό υπογόνιμων ανδρών με αζωοσπερμία και σοβαρή ολιγοζωοσπερμία, πριν από την εφαρμογή μεθόδων ιατρικώς υποβοηθούμενης αναπαραγωγής (ΙΥΑ). Οι εξεταζόμενοι υπεβλήθησαν σε εξονυχιστικό διαγνωστικό έλεγχο, με έμφαση στη διερεύνηση μικροελλείψεων του χρωμοσώματος Υ, καρυοτυπικών ανωμαλιών και μεταλλαγών του γονιδίου CFTR (Cystic Fibrosis Transmembrane Regulator) της ινοκυστικής νόσου. Η συνολική παρουσία των γενετικών ανωμαλιών ανήλθε στο 25%, με μεγαλύτερη συχνότητα για τις καρυοτυπικές ανωμαλίες (16%). Η εμφάνιση των μικροελλείψεων του χρωμοσώματος Υ (AZFb και AZFc) (3%), καθώς επίσης και του γονιδίου CFTR (6%), ευρέθησαν σε σχετικά χαμηλά επίπεδα.

Οι υπό εξέταση υπογόνιμοι άνδρες του Ελληνικού πληθυσμού επέδειξαν υψηλά επίπεδα γενετικών ανωμαλιών, πράγμα που ενισχύει τη σημασία του ενδελεχούς γενετικού ελέγχου και της ανάλογης παροχής γενετικής συμβουλής πριν από την εφαρμογή θεραπευτικών μεθόδων ΙΥΑ.


Keywords


azoospermia; oligozoospermia; genetic screening; therapeutic management; αζωοσπερμία; ολιγοζωοσπερμία; γενετικός έλεγχος; θεραπευτική προσέγγιση

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References


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DOI: http://dx.doi.org/10.19264/hj.v28i2.122