• PMID: 16500365
• Gene Name: NR5A1
• Condition: Infertility
• Association: The results suggest that the SF-1 Gly146Ala polymorphism may constitute a dominant susceptibility factor for the development of CO
• Mutation: Gly146Ala
• Population size: 208
• Population details: 208 (72 cryptorchid patients ( 56 unilateral CO (U-CO) (48 inguinal and eight abdominal) and 16 patients with bilateral CO (B-CO) (15 inguinal and one abdominal)), 136 control males)
• Age: Patients (1.5 to 13yrs), controls (24-50 yrs)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: cryptorchidism

Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1

Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T.

Genotyping analysis was performed for Gly146Ala polymorphism in the gene for steroidogenic factor-1 (SF-1), which is known to reduce the transactivation function by approximately 20%, in 72 cryptorchid patients and 136 control males, revealing that the Ala allele, the Ala/Gly genotype, and the Ala/Ala plus Ala/Gly genotype frequencies were significantly higher in the patients than in the control males. The results suggest that the Gly146Ala polymorphism may be a susceptibility factor for the development of cryptorchidism (CO). FAU - Wada, Yuka AU - Wada Y AD - Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan. FAU - Okada, Michiyo AU - Okada M FAU - Fukami, Maki AU - Fukami M FAU - Sasagawa, Isoji AU - Sasagawa I