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<p>Primary glucocorticoid (GC) resistance syndrome is a rare disease in which mutations inactivating the GC receptor result in partial, systemic resistance to the action of GCs. It is characterized by hyperactivation of the hypothalamus-pituitary-adrenal axis, biochemical hypercortisolism and variably combined symptoms of mineralocorticoid and androgen excess. The overlap with other forms of hypercortisolism makes it difficult to identify and requires referral to reference centres.</p>

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La sindrome da resistenza generalizzata ai glucocorticoidi

  • 期刊论文

  • 发表日期：

    2025年2月10日

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  • Marianna Martino,
  • Chiara Lopez,
  • Chiara Sola,
  • Nicola Ambo,
  • Gianmaria Salvio,
  • Mirko Parasiliti-Caprino

摘要

Primary glucocorticoid (GC) resistance syndrome is a rare disease in which mutations inactivating the GC receptor result in partial, systemic resistance to the action of GCs. It is characterized by hyperactivation of the hypothalamus-pituitary-adrenal axis, biochemical hypercortisolism and variably combined symptoms of mineralocorticoid and androgen excess. The overlap with other forms of hypercortisolism makes it difficult to identify and requires referral to reference centres.