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Primary Cortisol Resistance: A Family Study

The Clinical Center, and Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20205; and Ziekenhuis Bethel, Delft, Holland

Address requests for reprints to: George P. Chrousos, M.D., National Institutes for Health, Building 10, Room 10B09, Bethesda, Maryland 20205.

Primary cortisol resistance is an autosomal disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of clinical stigmata of Cushing's syndrome. The proband with the severe form had hypertension and hypokalemic alkalosis. In subjects with a less severe resistance to cortisol, there are no clinical abnormalities and the condition is revealed only by detailed examination of several parameters of cortisol secretion. (J Clin Endocrinol Metab 56: 1243, 1983)

Received September 16, 1982.

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