title: AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome.
abstract: Deletions of the AZFc region in Yq11.2, which include the DAZ gene family, are responsible for most cases of male infertility and were associated with severe oligozoospermia and also with a variable testicular pathology. To uncover the functional contribution of DAZ to human spermatogenesis, a DAZ gene copy-specific deletion analysis was previously established and showed that DAZ1/DAZ2 deletions associate with oligozoospermia. In this study we applied the same screening method to 50 control fertile males and 91 non-obstructive azoospermic males, 39 with Sertoli cell-only syndrome (SCOS) and 52 with meiotic arrest (MA). Samples were also screened with 24 sequence-tagged sites to the different AZF regions, including 114 control fertile males. After biopsy (testicular sperm extraction, TESE), residual spermiogenesis was found in 57.7% MA and 30.8% SCOS cases (incomplete syndromes). DAZ1/DAZ2 deletions were associated with the testicular phenotype of residual spermiogenesis as they were only found in two patients (8%) with incomplete MA. Differences between incomplete (23.3%) and complete (4.5%) MA cases regarding AZFc and DAZ1/DAZ2 deletion frequencies, and between incomplete (58.3%) and complete (11.1%) SCOS cases for AZFc deletions, suggest that incomplete syndromes might represent an aggravation of the oligozoospermic phenotype. As successful TESE was achieved in 87.5% of MA cases with AZFc and DAZ1/DAZ2 deletions and in 58.3% of SCOS cases with AZFc deletions, the present results also suggest that these molecular markers might be used for the establishment of a prognosis before TESE.
authors.affiliation: Department of Genetics, Faculty of Medicine, Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal.
authors.forename: C
authors.initials: C
authors.lastname: Ferrás
authors.forename: S
authors.initials: S
authors.lastname: Fernandes
authors.forename: C J
authors.initials: CJ
authors.lastname: Marques
authors.forename: F
authors.initials: F
authors.lastname: Carvalho
authors.forename: C
authors.initials: C
authors.lastname: Alves
authors.forename: J
authors.initials: J
authors.lastname: Silva
authors.forename: M
authors.initials: M
authors.lastname: Sousa
authors.forename: A
authors.initials: A
authors.lastname: Barros
mesh_terms: D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male; D008297:Male; D008540:Meiosis / Q000502:physiology*; D009845:Oligospermia / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D029589:Seminal Plasma Proteins / Q000235:genetics / Q000378:metabolism; D012708:Sertoli Cells / Q000166:cytology / Q000502:physiology*; D013091:Spermatogenesis / Q000502:physiology; D013577:Syndrome
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins; D029589:Seminal Plasma Proteins