Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects

December 1986 in “ The Journal of Clinical Endocrinology & Metabolism ”

Steven W. J. Lamberts, Don Poldermans, M. ZWEENS, Frank H. de Jong

hirsutism male pattern baldness cortisol dexamethasone androgen insulin test Cushing's syndrome

TLDR The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.

A 26-year-old woman exhibited symptoms of hirsutism, male pattern baldness, and menstrual irregularities, with elevated cortisol levels that did not suppress with dexamethasone, indicating familial cortisol resistance. Her father and two brothers also showed similar cortisol patterns without clinical symptoms. Chronic dexamethasone therapy improved her symptoms and normalized hormone levels without causing Cushing's syndrome. The study concluded that the patient had autosomal dominant hereditary partial cortisol insensitivity, leading to increased cortisol and androgen secretion, and highlighted the insulin test's utility in differentiating this condition from Cushing's disease.

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