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Normocortisolemic Cushing’s Syndrome Initially Presenting with Increased Glucocorticoid Receptor Numbers¹

Department of Pediatrics, New York-Presbyterian Hospital, New York Weill Cornell Center (R.S.N., G.K., T.L., M.I.N.), New York, New York 10021; and Department of Human Biological Chemistry and Genetics (D.C., J.A., E.B.T.), University of Texas Medical Branch (UTMB), Galveston, Texas

Address correspondence and requests for reprints to: Maria I. New, M.D., Professor and Chairman, Department of Pediatrics, Chief, Division of Pediatric Endocrinology, Harold and Percy Uris Professor of Pediatric Endocrinology and Metabolism, New York-Presbyterian Hospital, 525 East 68th Street, Room M-622, New York, New York 10021. E-mail: minew{at}mail.med.cornell.edu

A girl who developed Cushingoid features in peripuberty, but was eucortisolemic, was previously reported to have markedly elevated lymphocyte glucocorticoid receptor sites per cell with normal binding affinity as a potential cause of her phenotype. Her circadian rhythm of cortisol and pituitary-adrenal axis were initially intact, but later proved to be dysregulated. The patient presented at age 10.8 yr with centripetal obesity, moon facies, buffalo hump, and purple striae, but no statural stunting, which is a cardinal sign of Cushing’s syndrome. At 11.5 yr she suffered a compression fracture of the L1 vertebra. That prompted treatment with the antiprogestin drug mifepristone (RU486), which was administered at high dose to achieve an antiglucocorticoid effect. From ages 13.75 yr through 15.5 yr, RU486 was administered in various intervals to suppress her Cushingoid features. Once RU486 was introduced, however, a consistent correlation over time between the Cushingoid features and glucocorticoid receptor sites per cell was no longer observed. 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.

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