Absence of Cushingoid phenotype in a patient with Cushing's disease due to defective cortisone to cortisol conversion.

Conference item

Cushing's syndrome invariably presents with a classical phenotype comprising central adiposity, prominence of dorsal, supraclavicular and temporal fat pads, bruising, abdominal striae, proximal myopathy, and hypertension. We report the case of a 20-yr-old student with pituitary-dependent Cushing's syndrome who was spared this classical phenotype because of a defect in the peripheral conversion of cortisone to cortisol. She presented to her general practitioner with secondary amenorrhea. Clini...

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Authors: Tomlinson, J; Draper, N; Mackie, J; Johnson, A; Holder, G

• Publication status: Published
• Host title: The Journal of clinical endocrinology and metabolism
• Volume: 87
• Issue: 1
• Pages: 57-62
• Publication date: 2002-01-01
• Event location: United States
• DOI: 10.1210/jc.87.1.57
• EISSN: 1945-7197
• ISSN: 0021-972X
• Keywords: Cortisone; Humans; Hydroxysteroid Dehydrogenases; Cushing Syndrome; Hydrocortisone; Phenotype; Female; 11-beta-Hydroxysteroid Dehydrogenases; Adult