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 were performed on testicular biopsies from 7 boys who underwent orchiopexy and had testicular histology typical of a high risk of infertility (HIR). The results were compared with 12 biopsies from cryptorchid boys with a low risk for developing infertility. The following genes associated with mental retardation 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 of EGR4, FMR2 (AFF2) and VCX3A. In conclusion, impaired expression of genes known to encode proteins involved in signaling pathways that regulate cytoskeletal organization, synaptic vesicle transport and the establishment of connections between neuronal cells may contribute to reduced intellectual and cognitive functioning in infertile cryptorchid males.
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http://dx.doi.org/10.1159/000357931 | DOI Listing |
Sci Rep
January 2025
Department of Pediatric Surgery and Urology, Medical University of Bialystok, Waszyngtona 17, 15-274, Bialystok, Poland.
Cryptorchidism, the absence of one or both testicles in the scrotum, is the most common anomaly of genitourinary tract in males. The pathogenesis of undescended testes is unknown however the role of inflammation, tissue remodeling and oxidative stress is postulated. The aim of this study was to explore the role of HSP-70, MMP-3, MMP-17 and IL-8 in possible pathogenic pathways connected with cryptorchidism.
View Article and Find Full Text PDFMymensingh Med J
January 2025
Dr Mohammad Showkot Ali, Assistant Professor, Department of Pediatric Surgery, Mymensingh Medical College (MMC), Mymensingh, Bangladesh; E-mail:
One of the most prevalent congenital defects in boys is undescended testes. Ultrasound is commonly employed to locate the testis in cases of impalpable testes, which frequently yields false-negative results. Laparoscopy has gained widespread acceptance recently for managing impalpable testes.
View Article and Find Full Text PDFDiagnostics (Basel)
November 2024
Endocrinology Department, Elias Emergency University Hospital, 011461 Bucharest, Romania.
: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.
View Article and Find Full Text PDFAsian J Androl
December 2024
Institute for Cryptorchidism Research, Bahnhof Platz 11, Liestal 4410, Switzerland.
Asian J Urol
October 2024
Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Objective: Cryptorchidism affects up to 6% of full-term male infants, and orchidopexy has been shown to reduce impaired spermatogenesis and malignant risks significantly. However, the relationship between orchidopexy and sexual function has not been investigated. Therefore, this study aimed to evaluate sexual function outcomes in adult patients who underwent orchidopexy for unilateral undescended testis in childhood.
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