Chromosomal evaluation in a group of Tunisian patients with non-obstructive azoospermia and severe oligozoospermia attending a Tunisian cytogenetic department.
Male infertility is the cause in half of all childless partnerships. Numerous factors contribute to male infertility, including chromosomal aberrations and gene defects. Few data exist regarding the association of these chromosomal aberrations with male infertility in Arab and North African populations. We therefore aimed to evaluate the frequency of chromosomal aberrations in a sample of 476 infertile men with non-obstructive azoospermia (n=328) or severe oligozoospermia (n=148) referred for routine cytogenetic analysis to the department of cytogenetics of the Pasteur Institute of Tunis. The overall incidence of chromosomal abnormalities was about 10.9%. Out of the 52 patients with abnormal cytogenetic findings, sex chromosome abnormalities were observed in 42 (80.7%) including Klinefelter syndrome in 37 (71%). Structural chromosome abnormalities involving autosomes (19.2%) and sex chromosomes were detected in 11 infertile men. Abnormal findings were more prevalent in the azoospermia group (14.02%) than in the severe oligozoospermia group (4.05%). The high frequency of chromosomal alterations in our series highlights the need for efficient genetic testing in infertile men, as results may help to determine the prognosis, as well as the choice of an assisted reproduction technique. Moreover, a genetic investigation could minimize the risk of transmitting genetic abnormalities to future generations.
Department of Histology and Cytogenetics, Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis Belvédère, Tunisia; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia. Electronic address: amouri.ahlem@pasteur.rns.tn.
Ahlem
A
Amouri
Department of Histology and Cytogenetics, Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis Belvédère, Tunisia; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.
Wajih
W
Hammami
Department of Histology and Cytogenetics, Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis Belvédère, Tunisia; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.
Olfa
O
Kilani
Department of Urology, Charles-Nicolle University Hospital (Medical University of Tunis), boulevard du 9-Avril-1938, Bab Saadoun, Tunis, Tunisia.
Abderrezzak
A
Bouzouita
Department of Histology and Cytogenetics, Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis Belvédère, Tunisia; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.
Wiem
W
Ayed
Department of Obstetrics and Gynecology, Aziza Othmana University Hospital (Medical University of Tunis), place du Gouvernement, La Kasba, 1008 Tunis, Tunisia.
Mounir
M
Ben Meftah
Department of Obstetrics and Gynecology, Aziza Othmana University Hospital (Medical University of Tunis), place du Gouvernement, La Kasba, 1008 Tunis, Tunisia.
Mohamed
M
Khrouf
Department of Obstetrics and Gynecology, Aziza Othmana University Hospital (Medical University of Tunis), place du Gouvernement, La Kasba, 1008 Tunis, Tunisia.
Anis
A
Fadhlaoui
Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.
Sonia
S
Abdelhak
Department of Obstetrics and Gynecology, Aziza Othmana University Hospital (Medical University of Tunis), place du Gouvernement, La Kasba, 1008 Tunis, Tunisia.
Fethi
F
Zhioua
Laboratory of Electronic Microscopy, Faculty of Medicine, 1007 Tunis, Tunisia; Department of Pathology, Institut Kassab d'Orthopédie, Ksar Said, Tunisia.
Mohamed Habib
MH
Jaafoura
D000328:Adult; D053713:Azoospermia / Q000453:epidemiology / Q000473:pathology*; D002869:Chromosome Aberrations; D002877:Chromosomes, Human; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000473:pathology*; D015995:Prevalence; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes / Q000473:pathology; D013076:Sperm Count; D014416:Tunisia / Q000453:epidemiology
Anomalies chromosomiques; Azoospermia; Azoospermie; Chromosome abnormalities; Infertilité masculine; Male infertility; Oligozoospermia; Oligozoospermie