Normocortisolemic Cushing's syndrome initially presenting with increased glucocorticoid receptor numbers

A girl who developed Cushingoid features in peripuberty, but was eucortisol emic, was previously reported to have markedly elevated lymphocyte glucocor ticoid receptor sites per cell with normal binding affinity as a potential cause of her phenotype. Her circadian rhythm of cortisol and pituitary-adre nal axis were initially intact, but later proved to be dysregulated. The pa tient presented at age 10.8 yr with centripetal obesity, moon facies, buffa lo hump, and purple striae, but no statural stunting, which is a cardinal s ign of Gushing's syndrome. At 11.5 yr she suffered a compression fracture o f the L1 vertebra. That prompted treatment with the antiprogestin drug mife pristone (RU486), which was administered at high dose to achieve an antiglu cocorticoid effect. From ages 13.75 yr through 15.5 yr, RU486 was administe red in various intervals to suppress her Cushingoid features. Once RU486 wa s introduced, however, a consistent correlation over time between the Cushi ngoid features and glucocorticoid receptor sites per cell was no longer obs erved. However, the number of glucocorticoid receptor sites per cell tended to decrease in response to administering RU486. Ultimately, her Cushingoid phenotype proved to be transient.