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



Título del documento: The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism
Revista: International braz j urol
Base de datos: PERIÓDICA
Número de sistema: 000296938
ISSN: 1677-5538
Autores: 1
2



Instituciones: 1Hospital Geral Santo Antonio, Departamento de Urologia, Porto. Portugal
2Hospital Central Especializado de Criancas Maria Pia, Departamento de Urologia, Porto. Portugal
Año:
Periodo: May-Jun
Volumen: 32
Número: 3
Paginación: 330-335
País: Brasil
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Caso clínico, analítico
Resumen en inglés 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
Disciplinas: Medicina
Palabras clave: Cirugía,
Genética,
Criptorquidia,
Receptores androgénicos,
Polimorfismo genético,
ADN
Keyword: Medicine,
Surgery,
Cryptorchidism,
Androgen receptors,
Genetic polymorphism,
DNA,
Genetics
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