Androgen receptor CAG and GGN polymorphisms in boys with isolated hypospadias

Journal of Pediatric Endocrinology & Metabolism : JPEM
Alexis Parada-BustamanteAndrea Castro

Abstract

The etiology of hypospadias is multifactorial. Abnormal androgenic secretion and/or action during the development of external genitalia may be involved in the etiology of this congenital malformation. This study explored CAG and GGN polymorphisms in the androgen receptor (AR) gene, which may affect its transcriptional activity, in patients with isolated hypospadias. The length of the CAG/GGN polymorphisms was determined in 44 boys with non-severe (glandular) or severe (penile or penoscrotal) isolated hypospadias and with a normal hormonal evaluation. In addition, 79 healthy men, as controls, were studied. Mean CAG repeats were significantly higher in total and severe cases compared to controls (24.4 +/- 2.8 and 24.7 +/- 3.1 vs. 22.7 +/- 3.3, respectively; p<0.05, Student's t and Bonferroni test). In addition, a frequency of CAG alleles >23 was significantly different in total and severe cases compared to controls (70.5% and 74.1% vs. 39.2%, respectively, p<0.05, chi2 and Bonferroni test). The median number and the distribution of GGN polymorphisms were similar in cases and controls. Boys with isolated hypospadias have longer CAG alleles in their AR, which may be related with the development of this congenital malformation.

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Citations

Aug 22, 2013·Journal of Pediatric Urology·Warren T SnodgrassNicol Corbin Bush
May 5, 2016·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·C BertolinG Sorarù
Sep 4, 2018·The Kaohsiung Journal of Medical Sciences·Zhang ZhaoWen Fu
Dec 15, 2020·Arab Journal of Urology·Coriness Piñeyro-RuizJuan Carlos Jorge

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