Glucocorticoid resistance in premature pubarche and adolescent hyperandrogenism

To determine whether glucocorticoid resistance due to mutations in the glucocorticoid receptor (GRL) gene is associated with premature pubarche, hirsutism, or oligo/amenorrhea, we performed single-strand conformational polymorphism analysis of genomic DNA obtained from 25 children and 16 adolescent girls referred for the evaluation of premature pubarche, hirsutism, or oligo/amenorrhea. A missense mutation, N363S, and a presumed polymorphism in the 3'-UTR of exon 9alpha were identified. We conclude that glucocorticoid resistance due to GRL mutations is an infrequent cause of mild hyperandrogenism.