• PMID: 11591412
• Gene Name: AR
• Condition: Idiopathic male infertility
• Association: Expansion of the CAG repeat segment of the androgen receptor is correlated with male idiopathic infertility. The number of CAG repeats may therefore have a modulatory effect on normal androgen receptor function.
• Mutation: CAG repeat length
• Population size: 87
• Population details: 87 (37 infertile patients with azoospermia or oligospermia, 50 fertile controls )
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility

Relationship between expansion of the CAG repeat in exon 1 of the androgen receptor gene and idiopathic male infertility

Wallerand H, Rémy-Martin A, Chabannes E, Bermont L, Adessi GL, Bittard H.

OBJECTIVE: To determine whether expansion of CAG repeats in exon 1 of the androgen receptor is correlated with impaired spermatogenesis in patients with male idiopathic infertility. DESIGN: A retrospective study. SETTING: Medical school in Besançon, France. PARTICIPANT(S): Thirty-seven infertile patients with azoospermia or oligospermia and 50 fertile controls. INTERVENTION(S): History, physical, hormonal assays, semen analysis, and collection of blood samples in order to study the androgen receptor's gene. MAIN OUTCOME MEASURE(S): Blood samples were collected from each infertile patient and control. The length of the CAG repeat segment was evaluated by using polymerase chain reaction (PCR) electrophoresis in exon 1 and PCR single-strand conformation polymorphism in exons 2-8. RESULT(S): The mean length of the CAG repeats was significantly different between infertile and fertile patients (23.91 +/- 0.5 vs. 22.20 +/- 0.4). No mutation was detected in exons 2-8 of the androgen receptor gene in infertile patients. CONCLUSION(S): Expansion of the CAG repeat segment of the androgen receptor is correlated with male idiopathic infertility. The number of CAG repeats may therefore have a modulatory effect on normal androgen receptor function. FAU - Wallerand, H AU - Wallerand H AD - Service d'Urologie-Andrologie, Centre Hospitalo-Universitaire Saint-Jacques, Besançon, France. hwallerand@caramail.com FAU - Rémy-Martin, A AU - Rémy-Martin A FAU - Chabannes, E AU - Chabannes E FAU - Bermont, L AU - Bermont L FAU - Adessi, G L AU - Adessi GL