AZFb microdeletions and oligozoospermia—which mechanisms?

Atypical deletion patterns are presented in two oligozoospermic males. The Y chromosome with highly repetitive block sequences in AZFb and AZFc led to deletions by intrachromosomal recombination mechanisms (28w).
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Authors

Ana Rita Soares, M.D., Paula Costa, M.Sc., Joaquina Silva, M.D., Mário Sousa, M.D., Ph.D., Alberto Barros, M.D., Ph.D., Susana Fernandes, Ph.D.

Volume 97, Issue 4, Pages 858-863

Abstract

Objective:

To characterize the deletion patterns and its breakpoints in oligozoospermic patients presenting AZFb and AZFc microdeletions and to understand the recombination mechanisms underlying these microdeletions.

Design:

Case report.

Setting:

Genetics Department of Faculty of Medicine of Porto, Porto, Portugal.

Patient(s):

Two men with severe oligozoospermia and two men with nonobstructive azoospermia identified as having different AZFb+c deletion patterns via Y chromosome microdeletion analysis.

Intervention(s):

Definition of microdeletions and the fine characterization of the respective breakpoints by sequence-tagged sites (STS) polymerase chain reaction (PCR) and single-nucleotide variant (SNV) PCR.

Main Outcome Measure(s):

Study of the fine structure of the Y-chromosome and discussion of the putative mechanisms involved in each microdeletion pattern.

Result(s):

From the four patients studied, three deletion patterns were identified: IR4/distal-P2 (25%; 1 of 4), P5/proximal-P1 (50%; 2 of 4), and P5/distal-P1 (25%; 1 of 4). Although severe oligozoospermia is normally associated with AZFc, a complete AZFb deletion was found in one case.

Conclusion(s):

Analysis of these patients has revealed a new putative region that may be involved in spermatogenesis conservation.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)00128-8/fulltext

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