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  • Title: Androgen receptor gene CAG repeat polymorphism and X-chromosome inactivation in children with premature adrenarche.
    Author: Lappalainen S, Utriainen P, Kuulasmaa T, Voutilainen R, Jääskeläinen J.
    Journal: J Clin Endocrinol Metab; 2008 Apr; 93(4):1304-9. PubMed ID: 18252782.
    Abstract:
    CONTEXT: There is variation in the adrenal androgen levels and clinical findings of children with premature adrenarche (PA). OBJECTIVES: We hypothesized that androgen sensitivity, indicated by the length of CAG repeat in the X-chromosomal androgen receptor (AR) gene has a role in the polygenic pathogenesis of PA. DESIGN AND PATIENTS: We performed a cross-sectional association study among 73 Finnish Caucasian children with PA (10 boys and 63 girls) and 97 age- and gender-matched healthy controls (18 boys and 79 girls). MAIN OUTCOME MEASURES: AR gene methylation-weighted CAG(n)(mwCAG(n)) via CAG(n) length and X-chromosome inactivation analysis and clinical phenotype were determined. SETTING: The study took place at a university hospital. RESULTS: PA subjects had significantly shorter mwCAG(n) than controls [mean difference (95% confidence interval); 0.76 (0.14-1.38); P = 0.017]. AR gene mwCAG(n) did not correlate with androgen or SHBG levels in either group. In children with PA, mwCAG(n) correlated positively with body mass index (BMI) (tau = 0.19; P = 0.02). The mean of mwCAG(n) was significantly shorter in PA children with lower BMI compared with PA children with higher BMI [BMI sd score < 0.79, n = 35, vs. BMI sd score > 0.79, n = 36; 1.13 (0.38-1.87), P = 0.004] and in PA children with lower BMI compared with healthy children with same BMI (P = 0.004). CONCLUSIONS: The AR gene CAG(n) polymorphism may have a significant role in the pathogenesis of PA, especially in lean children.
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