AZF microdeletions in men with severe spermatogenesis failure: prevalence and correlation with hormonal status

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 524-553-Male Reproductive Endocrinology
Bench to Bedside
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-547
George Mskhalaya1, Yuliya Tishova*2, Victoria Zaletova1 and Sergey Zaletov1
1Center for Reproductive Medicine MAMA, Moscow, Russia, 2People`s Friendship University, Moscow, Russia
Complete deletion of any one of three Yq regions (AZFa, AZFb or AZFc) is known to severely diminish sperm production. The role of partial AZFc deletions is still a matter of debate, though its role in spermatogenesis impairment is shown by several case-control studies. The incidence of AZF microdeletions is in the range of 4.25% to 23% and 0.1% to 8.5% in patients with non-obstructive azoospermia and severe oligozoospermia respectively.

Our aim was to study the prevalence of different AZF deletions in men with severe oligo- and azoospermia, their hormonal status, related to the deletion discovered.

Materials and methods: 243 men with severe oligozoospermia (concentration not more than 5 mln per ml) and/or azoospermia were included in the study. All patients underwent hormonal analysis (serum FSH, Testosterone and LH levels) and genetic analyses including; AZF deletions and karyotype. All patients were divided into groups, according to AZF microdeletion found. Patients with both AZF deletions and aneuploidy were excluded. Statistical analysis was performed using Kruskal-Wallis test

Results: All men were divided into groups, according to the AZF deletion discovered. AZF deletions were found in 39 men (16%): 2 men (0.8%) - complete AZFb+c deletion (1 group), 7  (2.9%) - complete AZFc deletion (2 group), and the rest with partial deletions: 16 men (6.6%) - b2/b3 deletion (3 group), 10 men (4.1%) had gr/gr deletion (4 group), 4- AZF deletions with aneuploidy (1.6%) were excluded from the study. There was no difference found in concentration of spermatozoa [p=0.18], FSH [p=0.46], LH [p=0.7] and testosterone [p=0.73] levels between the groups.

Conclusion: No statistical difference was found in FSH, LH, testosterone levels between different study groups. The study showed b2/b3 is the most frequent partial AZF deletion. As it known b2/b3 deletion is associated with spermatogenesis impairment in Chinese men, same association was found in infertile men of Moroccan ancestry. Higher prevalence of b2/b3 deletions found can be explained by the heterogeneity of population in Russia, case-controlled studies needed to compare the distribution and impact of AZF deletions.

Nothing to Disclose: GM, YT, VZ, SZ

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm