Elsevier

Fertility and Sterility

Volume 78, Issue 6, December 2002, Pages 1209-1214
Fertility and Sterility

Male factor
Clinical relevance of partial AZFc deletions

Partly presented as the 2001 Society for Male Reproduction and Urology prize-winning paper at the 57th Annual Meeting of the American Society for Reproductive Medicine, Orlando, Florida, October 20–25, 2001.
https://doi.org/10.1016/S0015-0282(02)04390-XGet rights and content
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Abstract

Objective

To determine the number of DAZ gene clusters in the Y-bearing spermatozoa of patients who underwent intracytoplasmic sperm injection (ICSI) and to compare the outcome with the number of clusters found in the spermatozoa of normospermic men.

Design

Prospective study.

Setting

Academic hospital.

Patient(s)

Forty-seven patients with impaired spermatogenesis who were attending our clinic for ICSI and 56 semen donors.

Intervention(s)

Peripheral blood was drawn to obtain somatic DNA for polymerase chain reaction (PCR) analysis and leukocytes for karyotyping and FISH analysis. Three-color FISH was performed on the spermatozoa remaining after ICSI and on the spermatozoa of semen donors to determine the presence of the X and Y chromosome as well as the number of DAZ gene clusters.

Main outcome measure(s)

Number of DAZ gene clusters in Y-bearing spermatozoa.

Result(s)

Five patients had only one DAZ gene cluster, one patient had a complete AZFc deletion, and one patient had three clusters on average. One of the semen donors also showed three DAZ gene clusters in his Y-bearing spermatozoa. None of the semen donors had only one DAZ gene cluster.

Conclusion(s)

Besides complete AZFc deletions, partial deletions are also associated with impaired spermatogenesis. As a result, these partial deletions that are not recognized by routine PCR are reintroduced into the population by the ICSI technique.

Keywords

Microdeletions
AZFc
DAZ gene
spermatozoa
ICSI
male infertility

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