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Hum. Reprod. Advance Access published online on June 30, 2004
Human Reproduction, doi:10.1093/humrep/deh349
© 2004 by European Society of Human Reproduction and Embryology
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Received December 19, 2003
Accepted May 11, 2004

Article

Androgen receptor gene GGN and CAG polymorphisms among severely oligozoospermic and azoospermic Swedish men

Yasir Ruhayel 1*, Kristina Lundin 2, Yvonne Giwercman 3, Christer Halldén 4, Marianne Willén 5, Aleksander Giwercman 2

1 Fertility Centre, Scanian Andrology Centre, Malmö University Hospital, Lund University, Malmö, Sweden; Department of Urology, Malmö University Hospital, Lund University, Malmö, Sweden
2 Fertility Centre, Scanian Andrology Centre, Malmö University Hospital, Lund University, Malmö, Sweden; Department of Urology, Malmö University Hospital, Lund University, Malmö, Sweden
3 Department of Urology, Malmö University Hospital, Lund University, Malmö, Sweden
4 Department of Clinical Chemistry, Malmö University Hospital, Lund University, Malmö, Sweden
5 Slottstadens läkarhus, Fågelbacksgatan 11, Malmö, Sweden

* To whom correspondence should be addressed. E-mail: yasir.ruhayel{at}kir.mas.lu.se.


  Abstract

BACKGROUND: We investigated the androgen receptor gene GGN polymorphism and its relation to male infertility and receptor function. METHODS: Ninety-nine infertile patients with sperm counts ≤5x106/ml were screened for karyotypic abnormalities and Y-chromosome microdeletions. The GGN and CAG repeats were sequenced in those without genetic abnormalities and in 223 controls. RESULTS: Five men (5.1%) carried Y-chromosome microdeletions and five had abnormal karyotypes. Neither the distributions of GGN nor of CAG differed significantly between patients and controls. However, the <21 CAG and GGN=23 combination of repeats occurred more frequently in the controls (16%) compared to the entire group of patients (4%; P=0.003) and to the subgroup of 54 patients with idiopathic infertility (4%; P=0.02). Testicular volume and CAG lengths were higher (P=0.04 and 0.002 respectively) among the patients with GGN=23 compared to GGN=24. The odds ratio (OR) of having low prostatic secretory function was higher among patients with GGN=24 than those with GGN=23 (OR: 3.5; 95% CI: 1.1-11.7; P=0.04). CONCLUSIONS: The <21 CAG and GGN=23 combination of repeats may confer a lower risk of infertility to the carriers. Androgen sensitivity may be higher among carriers of the GGN=23 allele compared to the GGN=24 allele.

Keywords: androgen receptor; infertility; microdeletion; polymorphism; Y chromosome.
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