• PMID: 16813680
• Gene Name: AR
• Condition: Cryptorchidism
• Association: CAG repeat length of the AR gene does not seem to play a major role in patients with unilateral cryptorchidism.
• Mutation: CAG repeat polymorphism
• Population size: 73
• Population details: 73 (42 cryptorchid boys, 31 non-cryptorchid control)
• Sex: Men
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

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

Silva-Ramos M, Oliveira JM, Cabeda JM, Reis A, Soares J, Pimenta A.

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. FAU - Silva-Ramos, M AU - Silva-Ramos M AD - Department of Urology, Santo Antonio General Hospital, Porto, Portugal. miguel.silva_ramos@sapo.pt FAU - Oliveira, J M AU - Oliveira JM FAU - Cabeda, J M AU - Cabeda JM FAU - Reis, A AU - Reis A FAU - Soares, J AU - Soares J