Genetic aspects of human male infertility: the frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility

Vicdan A., Vicdan K., Gunalp S. , Kence A., Akarsu C., Isik A., ...Daha Fazla

EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY, cilt.117, ss.49-54, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 117 Konu: 1
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1016/j.ejogrb.2003.07.006
  • Sayfa Sayıları: ss.49-54


Objective: The main purpose of this, study is to detect the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions in patients with severe male factor infertility and fertile control subjects. The association between the genetic abnormality and clinical parameters was also evaluated. Methods: This study was carried out in 208 infertile and 20 fertile men. Results of 208 patients, 1 19 had non-obstructive azoospermia and 89 had severe oligoasthenoteratozoospermia (OAT). Seventeen out of 119 (14.3%) azoospermic patients and two out of 89 (2.2%) patients with OAT had Y chromosome microdeletions. In total, 19 cases with deletions were detected in 208 infertile men, with a frequency of 9.1%. The AZFc locus, mainly DAZ gene cluster was the most frequently deleted region. Five other cases with azoospermia (4.2%) and two cases with OAT (2.2%) had a chromosomal abnormality, with a total number of seven (3.4%). Including Y chromosome deletions and structural chromosome abnormalities, the rate of genetic abnormalities was 12.5% (26/208) in our patients. On the other hand, 20 men with proven fertility and fathers of five cases with microdeletions were genetically normal. Y chromosome deletions and chromosomal abnormalities were associated with various histological alterations in testis. Sertoli cell-only (SCO) syndrome and maturation arrest predominated in these cases, whereas hypospermatogenesis occurred more frequently in genetically normal patients. Conclusion: Various chromosomal abnormalities and deletions of Y chromosome can cause spermatogenic breakdown resulting in chromosomally derived infertility. All these findings strongly;support the recommendation of genetic screening of infertile patients. (C) 2003 Published by Elsevier Ireland Ltd.