Absence of constitutional Y chromosome AZF deletions in patients with testicular germ cell tumors

MF Lutke-Holzik, K Storm, RH Sijmons, M D'Hollander, EGJM Arts, ML Verstraaten, DT Sleijfer, HJ Hoekstra*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Scopus)

Abstract

Objectives. To investigate the frequency of azoospermia factor (AZF) deletions in Dutch patients with testicular germ cell tumors (TGCTs). Reduced fertility is associated with TGCTs and reduced fertility and TGCTs might share genetic risk factors according to the testicular dysgenesis hypothesis. Up to 8% of infertility and reduced fertility in the general male population can be explained by the presence of constitutional deletions of part of the long arm of the Y chromosome (Yq11), referred to as the AZF region.

Methods. In 112 patients with TGCT, screening for constitutional deletions in the AZF region was performed by multiplex polymerase chain reaction analysis in DNA extracted from peripheral blood lymphocytes. A set of 24 primer pairs, of which 20 primer pairs are homologous to previously identified and mapped sequenced tag sites within the AZF region were used.

Results. No deletions in the Yq11 region were detected in any of the 112 patients.

Conclusions. Large Y chromosome microdeletions in the AZF region are not a major contributor to the development of TGCT and TGCT-associated reduced fertility. (C) 2005 Elsevier Inc.

Original languageEnglish
Pages (from-to)196-201
Number of pages6
JournalUrology
Volume65
Issue number1
DOIs
Publication statusPublished - Jan-2005

Keywords

  • INFERTILITY
  • MEN
  • CRYPTORCHIDISM
  • MICRODELETIONS
  • CANCER
  • RISK

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