Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis

Abstract

An AR gene abnormality does not constitute an important factor for impaired spermatogenesis in patients with Klinefelter's syndrome.

Androgen Receptor Trinucleotide Polymorphism in Leiomyoma

“…In contrast, some investigator demonstrated the non-association between AR gene polymorphism and the individual diseases, including isolated familial breast and ovarian cancers (34), familial prostate cancer (35), cryptorchidism (36), and impaired spermatogenesis of Klinefelter's syndrome (37). These controversies may be due to the multiple enzymatic processes and interactions, different illness classification, racial, environmental and disease variation.…”

Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome

“…Parental origin of the X chromosomes was determined by genotyping each boy and both parents (with the exception of one father) at 10 microsatellite loci: DXS6807, DXS989, DXS1068, DXS1003, DXS6800, DXS6797, DXS1001, DXS984, DXS1193 and DXS1073. The length of the CAGn repeat in exon 1 of the AR gene and the degree of X chromosome inactivation were determined essentially as outlined in Suzuki et al 13 . The CAG alleles were sized initially by genotyping, and the lengths of the repeats subsequently confirmed by sequencing all homozygous samples.…”

“…The length of the CAGn repeat in exon 1 of the AR gene and the degree of X chromosome inactivation were determined essentially as outlined in Suzuki et al . 13 The CAG alleles were sized initially by genotyping, and the lengths of the repeats subsequently confirmed by sequencing all homozygous samples. The degree of skewing of X inactivation was estimated for all heterozygous samples according to the equations outlined in Iitsuka et al .…”

Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?

“…To our knowledge, only one study has investigated the presence of AR mutations in a little group of Klinefelter subjects, showing no mutations in this cohort 20 . It is possible, however, that mutations in these patients remained undetected because the low sensitivity of the SSCP method (Single Strand Conformation Polymorphism) used for the analysis or because the little number of included patients.…”