Witchel S F, Smith R R
Children's Hospital of Pittsburgh, University of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, Pennsylvania, 15213, USA.
Mol Genet Metab. 1999 Feb;66(2):137-41. doi: 10.1006/mgme.1998.2796.
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.
