• PMID: 19937586
• Gene Name: AR
• Condition: Teratozoospermia
• Association: There was a significant correlation between the absence of exon 1 in the AR gene and spermatogenesis defects (P = 0.015). This association was significant in teratozoospermic men (51.5% of the sample). They found that lack of amplification of exon 1 of th
• Mutation: exon 1 deletion the AR gene
• Population size: 111
• Population details: 111 infertile, oligozoospermic (N = 31), asthenozoospermic (N = 23), teratozoospermic (N = 33), and azoospermic (N = 24) men
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

Absence of the exon 1 coding sequence of the androgen receptor gene associated with teratozoospermia in a Brazilian population

Mesquita WE, Approbato MS, Moura KK, Jesuíno RS.

The androgen receptor (AR) is a protein encoded by the AR gene, which when mutated may affect spermatogenesis, the process in which spermatozoa are produced; thus, AR mutations could lead to male infertility. We examined exon 1 of the AR gene in men with idiopathic infertility. Blood or semen samples from 111 infertile, oligozoospermic (N = 31), asthenozoospermic (N = 23), teratozoospermic (N = 33), and azoospermic (N = 24) men were analyzed. The extracted DNA was amplified for the exon 1 region of the AR gene. There was a significant correlation between the absence of exon 1 in the AR gene and spermatogenesis defects (P = 0.015). This association was significant in teratozoospermic men (51.5% of the sample). We found that lack of amplification of exon 1 of the AR gene by polymerase chain reaction is associated with morphological defects in the spermogram. FAU - Mesquita, W E J C AU - Mesquita WE AD - Departamento de Biologia, Universidade Católica de Goiás, Goiânia, GO, Brasil. wyara_castro@yahoo.com.br FAU - Approbato, M S AU - Approbato MS FAU - Moura, K K V O AU - Moura KK