Decreased Expression of Genes Associated with Memory and X-Linked Mental Retardation in Boys with Non-Syndromic Cryptorchidism and High Infertility Risk

An elevated odds ratio for low IQ has been found for cryptorchid boys. Furthermore, poor school performance has been observed in cryptorchid boys with impaired mini-puberty.


Gene expression analysis, qPCR and immunohistology wereperformed on testicular biopsies from 7 boys who under-went orchiopexy and had testicular histology typical of ahigh risk of infertility (HIR). The results were compared with12 biopsies from cryptorchid boys with a low risk for develop-ing infertility. The following genes associated with mentalretardation were identically expressed: GDI1, OPHN1, PAK3,ARHGEF6, IL1RAPL, ACSL4, MECP2, RPS6KA3, ARX, and ATRX.However, boys in the HIR group had low or no expression ofEGR4, FMR2 (AFF2) and VCX3A. In conclusion, impaired ex-pression of genes known to encode proteins involved in sig-naling pathways that regulate cytoskeletal organization, syn-aptic vesicle transport and the establishment of connectionsbetween neuronal cells may contribute to reduced intellec-tual and cognitive functioning in infertile cryptorchid males.
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