Male infertility in Sertoli cell‐only syndrome: An investigation of autosomal gene defects

Abstract

Objectives To detect autosomal genetic defects and to determine candidate genes in Sertoli cell‐only syndrome infertile men. Methods Single‐nucleotide polymorphism + comparative genomic hybridization microarray technology was carried out on 39 Sertoli cell‐only syndrome infertile patients in the present study. Array comparative genomic hybridization compares the patient's genome against a reference genome, and identifies uncover deletions, amplifications and loss of heterozygosity. Results A link between defective spermatogenesis genes and infertility was examined, and amplifications and deletions in several genes were detected, including homeobox gene; synaptonemal complex element protein 1; collagen, type I, alpha 1; imprinted maternally expressed transcript; and potassium voltage‐gated channel subfamily Q member 1. Conclusions The present data suggest that several genes can play an important role in spermatogenesis and progression of Sertoli cell‐only syndrome.

Editorial Comment from Dr Miyamoto to Male infertility in Sertoli cell‐only syndrome: An investigation of autosomal gene defects

“…2,3 The article by Koc et al reports that the link between defective spermatogenesis genes and SCOS in humans was examined based on single-nucleotide polymorphisms + comparative genomic hybridization array using genomic DNA from 39 SCOS patients. 4 In recent years, DNA microarray technologies have been used to define mutations responsible for infertile phenotypes in men. 5 The authors detected amplifications and deletions in the HOXD9, SYCE1, COL1A1, H19 and KCNQ1 genes.…”

“…5 The authors detected amplifications and deletions in the HOXD9, SYCE1, COL1A1, H19 and KCNQ1 genes. 4 It is suggested that these genes might play roles in SCOS progression. Numerous studies have been published on genetic analysis in cases of male infertility.…”

“…In recent years, DNA microarray technologies have been used to define mutations responsible for infertile phenotypes in men . The authors detected amplifications and deletions in the HOXD9 , SYCE1 , COL1A1 , H19 and KCNQ1 genes . It is suggested that these genes might play roles in SCOS progression.…”

Mapping molecular pathways for embryonic Sertoli cells derivation based on differentiation model of mouse embryonic stem cells

“…In mammalian embryo, Sertoli cells play a key role in the onset of male determination and gonadal development [1]. The mechanism of derivation and development of Sertoli cells has a close relevance with some reproductive disorders [2][3][4][5]. However, the molecular pathways in the derivation of Sertoli cells in embryos are still unclear.…”

Editorial Comment from Dr Kuroda to Male infertility in Sertoli cell‐only syndrome: An investigation of autosomal gene defects

“…The article by Koc et al . is a retrospective study with patient consent investigating autosomal gene defects in patients with Sertoli cell‐only syndrome (SCOS) . Although azoospermia factor a deletion in the Y chromosome is known to be a genetic cause of SCOS, many other causes of SCOS are still unknown.…”