• PMID: 15474244
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results conclude that chromosomal abnormalities and deletions of Y chromosome can cause spermatogenic breakdown resulting in chromosomally derived infertility
• Mutation: Y chromosome microdeletions
• Population size: 228
• Population details: 208 (119 non-obstructive azoospermia, 89 severe oligoasthenoteratozoospermia )
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, severe oligoasthenoteratozoospermia, Sertoli cell-only (SCO) syndrome, maturation arrest, hypospermatogenesis

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

Vicdan A, Vicdan K, Günalp S, Kence A, Akarsu C, I?ik AZ, Sözen E.

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, 119 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. FAU - Vicdan, Arzu AU - Vicdan A AD - Department of Biology, Middle East Technical University, Meneviş Sokak 30/6, A. Ayranci, Ankara 06540, Turkey. arzuvicdan@hotmail.com FAU - Vicdan, Kubilay AU - Vicdan K FAU - Günalp, Serdar AU - Günalp S FAU - Kence, Aykut AU - Kence A FAU - Akarsu, Cem AU - Akarsu C FAU - Işik, Ahmet Zeki AU - Işik AZ