Abstract
To study the relationship between the responsiveness to metformin in girls with androgen excess and combinations of genetic variants-as reflected in a polymorphism score-in single nucleotide polymorphisms (OCT1, STK11, and FTO genes) and in the repeat numbers within the AR and SHBG genes. Longitudinal (1-year) follow-up. University hospital. Hyperandrogenic adolescent girls receiving metformin. Single nucleotide polymorphisms and repeat numbers were assessed in 104 adolescent girls with androgen excess. The polymorphism score was the sum of subscores given for response alleles in OCT1, STK11, and FTO and for high repeat numbers in SHBG and AR alleles. The response to metformin (850 mg/d) was judged by changes over 1 year in endocrine-metabolic state and body composition. Changes in fasting insulin levels, triacylglycerol levels, LDL-HDL ratio, and body composition differed strikingly by polymorphism score. Collectively, genetic polymorphisms had a major influence on the responsiveness to metformin in adolescent girls with androgen excess.
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