• PMID: 10749991
• Gene Name: AR
• Condition: Undermasculinized genitalia
• Association: The association of both undermasculinized genitalia and isolated male factor infertility with AR(Gln)(n) length provides additional evidence that they may represent different degrees of severity of the same disease process.
• Mutation: AR(Gln)(n) repeats
• Population size: 928
• Population details: 928 (850 controls, 78 undermasculinized group)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Undermasculinized genitalia

Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males

Lim HN, Chen H, McBride S, Dunning AM, Nixon RM, Hughes IA, Hawkins JR.

The androgen receptor (AR) is essential to the normal development of the male internal and external genitalia. Consequently, impairment of AR function can result in undermasculinized genitalia that vary from a completely female appearance to isolated hypospadias. Since in vitro studies demonstrate that AR function is reduced by expansion of the polyglutamine tract within the receptor [AR(Gln)(n)]; this study examined whether longer AR(Gln)(n) repeats are associated with moderate to severe undermasculinization. The average AR(Gln)(n) length of the undermasculinized group (n = 78, median 25, interquartile range 23-26) was significantly greater than that of the control population (n = 850, median 23, inter-quartile range 22-26, P = 0.002). The odds ratio of having >/=23 repeats (as opposed to