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

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-adre...

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Bibliographic Details
Published in:The journal of clinical endocrinology and metabolism 2000, Vol.85 (1), p.14-21
Main Authors: NEWFIELD, R. S, KALAITZOGLOU, G, LICHOLAI, T, CHILTON, D, ASHRAF, J, THOMPSON, E. B, NEW, M. I
Format: Article
Language:English
Subjects:
Adrenocorticotropic Hormone - blood
Biological and medical sciences
Child
Cushing Syndrome - blood
Cushing Syndrome - drug therapy
Cushing Syndrome - genetics
Female
Growth - physiology
Hormone Antagonists - therapeutic use
Hormones. Endocrine system
Human Growth Hormone - blood
Humans
Hydrocortisone - blood
Medical sciences
Mifepristone - therapeutic use
Organ Size - physiology
Pharmacology. Drug treatments
Phenotype
Receptors, Glucocorticoid - genetics
Receptors, Glucocorticoid - metabolism
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Summary: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.
ISSN:0021-972X
1945-7197
DOI:10.1210/jc.85.1.14