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

• Published in: Human reproduction (Oxford) Vol. 13; no. 2; pp. 302 - 307
• Main Authors: Foresta, C., Ferlin, A., Garolla, A., Moro, E., Pistorello, M., Barbaux, S., Rossato, M.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.02.1998
• Subjects: Biological and medical sciences; Chromosome Deletion; fine needle aspiration; Follicle Stimulating Hormone - blood; Gynecology. Andrology. Obstetrics; Humans; Luteinizing Hormone - blood; Male; Male genital diseases; male infertility; Medical sciences; Non tumoral diseases; Oligospermia - blood; Oligospermia - genetics; Oligospermia - pathology; Phenotype; Polymerase Chain Reaction; Sequence Tagged Sites; Sertoli cell-only; Sertoli Cells - pathology; Spermatogenesis - genetics; Syndrome; Testis - pathology; Testosterone - blood; Y Chromosome - genetics; Y-chromosonie deletions; Y-chromosonie deletions; male infertility; Sertoli cell-only; fine needle aspiration; Human; Polymerase chain reaction; Azoospermia; Sertoli cell only syndrome; Fine needle; Aspiration; Spermatogenesis; Deletion; Male sterility; Y-Chromosome; Male genital diseases
• ISSN: 0268-1161; 1460-2350
• DOI: 10.1093/humrep/13.2.302

Idiopathic Sertoli cell-only syndrome (SCOS) Is characterized by azoospermia, small testes, absence of germ cells In the testes, elevated Mick stimulating hormone and normal testosterone concentrations. The Y-chremosome 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 Yq 11 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.