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  • Title: Primary glucocorticoid receptor defect with likely familial involvement.
    Author: Vecsei P, Frank K, Haack D, Heinze V, Ho AD, Honour JW, Lewicka S, Schoosch M, Ziegler R.
    Journal: Cancer Res; 1989 Apr 15; 49(8 Suppl):2220s-2221s. PubMed ID: 2539257.
    Abstract:
    A 29-year-old woman with moderately elevated blood pressure and signs of hyperandrogenism (hirsutism and acne) but without typical Cushing's syndrome symptoms has been followed for almost 6 years. Steroid and glucocorticoid receptor studies indicated a primary glucocorticoid receptor defect. Elevated androgen values were of special interest. Clinical manifestation of hyperandrogenism seemed not to be proportional to the biochemical findings. Therefore, the possibility of a partial androgen receptor defect should also be considered.
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