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Generalized glucocorticoid resistance syndrome

ORPHA:786 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(5)

  • Decreased circulating aldosterone concentrationHP:0004319
  • FatigueHP:0012378
  • HirsutismHP:0001007
  • Increased circulating ACTH levelHP:0003154
  • Increased urinary cortisol levelHP:0012030

Frequent (79-30%)(7)

  • Abnormal circulating testosterone concentrationHP:0030087
  • AcneHP:0001061
  • Adrenal hyperplasiaHP:0008221
  • HypertensionHP:0000822
  • HypokalemiaHP:0002900
  • Metabolic alkalosisHP:0200114
  • OligomenorrheaHP:0000876

Occasional (29-5%)(8)

  • Ambiguous genitaliaHP:0000062
  • Female pseudohermaphroditismHP:0010458
  • Frontal baldingHP:0002292
  • HypoglycemiaHP:0001943
  • Increased circulating cortisol levelHP:0003118
  • InfertilityHP:0000789
  • OligozoospermiaHP:0000798
  • Precocious pubertyHP:0000826

Very rare (<4-1%)(1)

  • StrokeHP:0001297