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glucocorticoid resistance syndrome


Definition: familial or sporadic syndrome characterized by increased cortisol production by absence of typical Cushing syndrome stigmata (central obesity, hypogonadism, thin skin, osteoporosis, arrested growth in children). Presents as hypertension with or without electrolyte abnormalities, hyperandrogenism in women (acne, hirsuitism, male pattern baldness, oligomenorrhea, partial or total suppression of ovulation and menses, anovulation), precocious puberty, or ambiguous genitalia. Can be transmitted as an autosomal recessive or dominant disease and has been associated with defects of the glucocorticoid receptor.

Synonym(s): primary cortisol resistance

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.