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

Hum Reprod. 1998 Feb;13(2):302-7. doi: 10.1093/humrep/13.2.302.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Follicle Stimulating Hormone / blood
  • Humans
  • Luteinizing Hormone / blood
  • Male
  • Oligospermia / blood
  • Oligospermia / genetics*
  • Oligospermia / pathology*
  • Phenotype
  • Polymerase Chain Reaction
  • Sequence Tagged Sites
  • Sertoli Cells / pathology*
  • Spermatogenesis / genetics
  • Syndrome
  • Testis / pathology
  • Testosterone / blood
  • Y Chromosome / genetics*

Substances

  • Testosterone
  • Luteinizing Hormone
  • Follicle Stimulating Hormone

Grants and funding