• PMID: 24691874
• Gene Name: AR
• Condition: Speramtogenetic defects, Idiopathic infertility, cryptorchidism
• Association: The study showed that the outliers of AR-CAG repeat length seem to influence the function of AR, affecting testisvolume and Sertoli cell function and consequently sperm production in both fertile and idiopathic infertile men.
• Mutation: AR-CAG polymorphism
• Population size: 200
• Population details: 200 (90 idiopathic olizoospermic males (IOM) and 20 idiopathic azoospermic males, 19 Cryptorchidism and 10 Y chromosome long arm microdeletions, 61age-matched fertile healthy men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: FSH, LH, INHB
• Other associated phenotypes: Spermatogenetic defects, Idiopathic infertility, cryptorchidism

Could androgen receptor gene CAG tract polymorphism affect spermatogenesis in men with idiopathic infertility?

Giagulli VA, Carbone MD, De Pergola G, Guastamacchia E, Resta F, Licchelli B, Sabbà C, Triggiani V.

PURPOSE: This study examined whether the AR-CAG repeat length might affect clinical characteristics (testis volume) seminal parameters (sperm count and its mobility) along with hormonal serum profile [FSH, LH, Testosterone (T) and Inhibin B (InhB)] both in idiopathic male infertility (IM) and in infertility due to a previous condition of cryptorchidism (CryM) or to Y chromosome long arm microdeletions (YM). DESIGN: Observational study without intervention(s). PATIENTS: One hundred and ten IM patients [90 idiopathic olizoospermic males (IOM) and 20 idiopathic azoospermic males (IAM)], 19 CryM male and 10 YM patients were included. Sixty-one age-matched healthy men who had fathered within 3 years were involved representing the control group (FM). RESULTS: AR-CAG repeats stretch was significantly longer in IOM (p<0.05), CryM (p<0.05) and YM (p<0.001) than FM. When the AR-CAG repeat tracts were subdivided in three subgroups according to the length of CAG repeats tract assessed in fertile subjects (the one with the middle (n 19-21) belonging to the 25 and 75 % inter-quartile, the ends belonging to the <25 % inter-quartile and >75 % inter-quartile, respectively), there was a statistically significant difference of distribution of AR-CAG tract length among fertile and different groups of infertile men (p=<0.0005; chi-square test). Moreover, the subgroup of AR-CAG repeat stretch with 22-28 triplets was associated with lower levels of InhB both in idiopathic oligozoospermic (Scheffe, Bonferroni and Dunett tests p=<0.01) and azoospermic men (Scheffe, Bonferroni and Dunett test p=<0.05), while, when FM and men with idiopathic infertility were gathered in a single group, both the subgroup of AR- CAG tract with 15-18 repeats and the one with 22-28 repeats are associated with lower testis volume, reduced sperm count and serum InhB levels. CONCLUSIONS: Our study showed that the outliers of AR-CAG repeat length seem to influence the function of AR, affecting testis volume and Sertoli cell function and consequently sperm production in both fertile and idiopathic infertile men. FAU - Giagulli, V A AU - Giagulli VA AD - Endocrinology and Metabolic Diseases, University of Bari, Bari, Italy, vitogiagulli@alice.it. FAU - Carbone, M D AU - Carbone MD FAU - De Pergola, G AU - De Pergola G FAU - Guastamacchia, E AU - Guastamacchia E FAU - Resta, F AU - Resta F FAU - Licchelli, B AU - Licchelli B FAU - Sabbà, C AU - Sabbà C