• PMID: 9557827
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study demonstrates that a large percentage of idiopathic SCOS may be genetically determined and a Yq region was identified which may reflect the presence of one or more genes for spermatogenesis
• Mutation: Y chromosome deletions
• Population size: 94
• Population details: 59 azoospermic, 35 normozoospermic
• Sex: Male
• Infertility type: Male infertility
• Associated genes: RBM1
• Other associated phenotypes: Sertoli cell- only syndrome

High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome

Foresta C, Ferlin A, Garolla A, Moro E, Pistorello M, Barbaux S, Rossato M.

Idiopathic Sertoli cell-only syndrome (SCOS) is characterized by azoospermia, small testes, absence of germ cells in the testes, elevated follicle stimulating hormone and normal testosterone concentrations. The Y-chromosome is involved in the regulation of spermatogenesis and in the pathogenesis of a fraction of idiopathic male infertility. An azoospermia factor (AZF) is present on the Y-chromosome long arm euchromatic region (Yq11) and two gene families (DAZ and RBM) have been identified within this region. The aim of this study was to investigate whether a specific pattern of Yq11 microdeletions may be associated with idiopathic SCOS. Eighteen idiopathic subjects showing a testicular cytological picture of bilateral SCOS were selected and tested by polymerase chain reaction for a set of 29 Y-specific sequence-tagged sites (STS). We found Yq microdeletions in 10 out of 18 patients (55.5%) while the fathers or brothers of six out of 10 patients deleted for Yq were shown to carry an intact Y-chromosome. These deletions may therefore be considered as de-novo deletions and the cause of SCOS. The analysis of the microdeletions allowed us to identify two homogeneous regions that have a high incidence of deletion. The smallest deletion, common to all patients, is located in Yq interval 5. We therefore speculate that there is a relationship between specific, well-characterized Yq11 microdeletions and a testicular picture of SCOS, identifying an Y-related region frequently deleted in this syndrome. In conclusion, the findings of this study demonstrate that a large percentage of idiopathic SCOS may be genetically determined and identify an Y-related region that seems to possess one or more still unknown genes essential for spermatogenesis. FAU - Foresta, C AU - Foresta C AD - Patologia Medica III, University of Padova, Italy. FAU - Ferlin, A AU - Ferlin A FAU - Garolla, A AU - Garolla A FAU - Moro, E AU - Moro E FAU - Pistorello, M AU - Pistorello M FAU - Barbaux, S AU - Barbaux S