The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism

• Main Authors: M. Silva-Ramos, J. M. Oliveira, J. M. Cabeda, A. Reis, J. Soares, A. Pimenta
• Format: Article
• Language: English
• Published: Sociedade Brasileira de Urologia 2006-06-01
• Series: International Brazilian Journal of Urology
• Subjects: cryptorchidism; androgens receptors; genetic polymorphisms
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382006000300014
• ISSN: 1677-5538; 1677-6119

PURPOSE: We examined the significance of the CAG repeat polymorphism in the pathogenesis of cryptorchidism. MATERIALS AND METHODS: Genomic deoxyribonucleic acid (DNA) was extracted from blood samples from 42 cryptorchid boys and from 31 non-cryptorchid control subjects. In the cryptorchid group, 7 had bilateral cryptorchidism and 6 had patent processus vaginalis in the contralateral side. To determine the number of CAG repeats, the DNA was amplified by polymerase chain reaction and sequenced. RESULTS: The mean CAG repeat length in the AR gene was 22.5 (range 16 to 28) in patients and 21.5 (range 17 to 26) in controls (non-significant). Patients with bilateral cryptorchidism had a mean length of 24.3 (range 21 to 26) and patients with unilateral cryptorchidism and patent processus vaginalis in the contra lateral side had a mean of 25.2 (range 21 to 28), which was statistically different from controls (p = 0.015 and p = 0.005 respectively). CONCLUSION: CAG repeat length of the AR gene does not seem to play a major role in patients with unilateral cryptorchidism. However, in patients with bilateral undescended testis, a less functional androgen receptor through a longer polyglutamine chain may have a role in its pathogenesis. In the same way, patients with unilateral cryptorchidism a contralateral patent processus vaginalis have longer CAG repeats that might be responsible for a slower testicular descent and incomplete closure of the processus vaginalis.