{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T22:01:40Z","timestamp":1782252100225,"version":"3.54.5"},"reference-count":52,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,7,5]],"date-time":"2023-07-05T00:00:00Z","timestamp":1688515200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cryptorchidism is one of the most common congenital disorders in boys and it is associated with a higher risk of sub\u2010fertility and testicular cancer. Testicular descent occurs during embryo\u2010fetal development in two phases, transabdominal and inguino\u2010scrotal. In the latter process, androgens play a leading role. The androgen receptor has in its N\u2010terminal domain, two aminoacidic repeats encoded by polymorphic nucleotide repetitions: (CAG)nCAA and GGN. The number of repetitions of these trinucleotides has been associated with different transactivation capacities and sensitivities of the androgen receptor response.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine whether pediatric Chilean individuals with idiopathic inguinal cryptorchidism have a different number of CAG and\/or GGN repeats polymorphisms compared with controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>A total of 109 cases with idiopathic inguinal cryptorchidism (26 bilateral and 83 unilateral) were studied by polymerase chain reaction amplification from DNA extracted from peripheral blood, followed by fragment size analysis by capillary electrophoresis, which were compared with 140 controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The CAG26 repeats allele was increased in the total cases (8.3%\u00a0vs. 1.4%; p\u00a0=\u00a00.012; odds ratio\u00a0=\u00a06.21, 95% confidence interval 1.31\u201329.4), and in bilateral cases compared to controls (11.5%\u00a0vs. 1.4%; p\u00a0=\u00a00.028; odds ratio\u00a0=\u00a09 CI 95% 1.43\u201356.8). Similarly, CAG\u00a0&gt;\u00a022 alleles were increased in the total cases (62.4%\u00a0vs. 49.3%, p\u00a0=\u00a00.041), and more significantly in bilateral cases (73.1%\u00a0vs. 49.3%; p\u00a0=\u00a00.032; odds ratio\u00a0=\u00a02.79, 95% confidence interval 1.1\u20137.1). In addition, CAG\u00a0&lt;\u00a018 alleles were not observed among cases, but were present in 5.7% of controls (p\u00a0=\u00a00.01). Regarding the GGN repeats, no differences were observed between cases and controls either when analyzing separately unilateral and bilateral cryptorchidism. The joint analysis of the distribution of CAG and GGN alleles showed that the CAG26 allele was present with GGN23, hence the combination CAG26\/GGN23 alleles was equally increased in bilateral cases compared with controls (11.5%\u00a0vs. 1.4%). In contrast, CAG\u00a0&lt;\u00a018 was preferably observed in the combination CAG\u00a0&lt;\u00a018\/GGN\u226023 and was absent in the total cases (4.3%\u00a0vs. 0%; p\u00a0=\u00a00.037).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>These results suggest that greater lengths of CAG alleles may contribute to a diminished androgen receptor function. The CAG26 allele alone or in combination with GGN23 was associated with a higher risk of bilateral cryptorchidism. On the other hand, CAG\u00a0&lt;\u00a018 and the CAG\u00a0&lt;\u00a018\/GGN\u226023 allele combination may reduce the probability of cryptorchidism.<\/jats:p><\/jats:sec>","DOI":"10.1111\/andr.13487","type":"journal-article","created":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T12:10:07Z","timestamp":1687954207000},"page":"289-296","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["CAG and GGN repeat polymorphisms in the androgen receptor gene of a Chilean pediatric cohort with idiopathic inguinal cryptorchidism"],"prefix":"10.1111","volume":"12","author":[{"given":"Fernando","family":"Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Institute of Maternal and Child Research, School of Medicine, University of Chile Santiago Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Godoy","sequence":"additional","affiliation":[{"name":"Institute of 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