• PMID: 17590851
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results emphasize that Y chromosome microdeletion analysis should be carried out in all patients with idiopathic azoospermia or severe oligospermia who are candidates for intracytoplasmic sperm injection
• Mutation: Microdeletions in AZF a, b
• Population size: 199
• Population details: 100 controls, 99 azoospermia or severe oligozoospermia
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AZF b, c
• Other associated phenotypes: Azoospermia. Oligospermia

Y chromosome microdeletions in idiopathic infertile men from West Azarbaijan

Omrani MD, Samadzadae S, Bagheri M, Attar K.

INTRODUCTION: Although assisted reproduction techniques are used extensively in Iran, screening for Y chromosome microdeletions before intracytoplasmic sperm injection is often undervalued. Our aim was to investigate Y chromosome microdeletions in men with idiopathic azoospermia or severe oligospermia. MATERIALS AND METHODS: In 99 selected patients with azoospermia or severe oligospermia and elevated levels of follicle-stimulating hormone and luteinizing hormone in combination with low serum testosterone levels, 20 pairs of sequence-tagged site-based primer sets specific for the Y microdeletion loci were analyzed. Primers were chosen to cover azoospermia factor (AZF) regions as well as deleted in azoospermia (DAZ) and the sex-determining region on Y chromosome (SRY) genes. Also, 100 healthy men served as a control group. RESULTS: Twenty-four patients (24.2%) had microdeletions in AZF genes, but no microdeletions were found in men in the control group. In 15 patients (62.5%), 1 deletion was found. Six patients (25%) had 2, and 3 (12.5%) had 3 deletions. The deletions mainly comprised the AZFc region (in 21 of 24 patients; 87.5%), which corresponds to the DAZ gene. Deletions in AZFb were found in 7 patients (29.2%), and 4 (16.7%) had deletions in the proximal part of AZF regions near SRY gene. No microdeletions were seen in the AZFa or SRY gene. CONCLUSION: Our results emphasize that Y chromosome microdeletion analysis should be carried out in all patients with idiopathic azoospermia or severe oligospermia who are candidates for intracytoplasmic sperm injection. FAU - Omrani, Mir Davood AU - Omrani MD AD - Department of Genetics, Urmia University of Medical Sciences, Urmia, Iran. davood_omrani@umsu.ac.ir FAU - Samadzadae, Saied AU - Samadzadae S FAU - Bagheri, Mortaza AU - Bagheri M