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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

ORPHA:90795 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(11)

  • Accelerated skeletal maturationHP:0005616
  • Ambiguous genitaliaHP:0000062
  • Decreased circulating cortisol levelHP:0008163
  • Decreased circulating renin concentrationHP:0003351
  • Elevated circulating 17-hydroxyprogesterone concentrationHP:0031213
  • Growth abnormalityHP:0001507
  • HypertensionHP:0000822
  • HypokalemiaHP:0002900
  • Increased circulating androgen concentrationHP:0030348
  • Increased circulating androstenedione concentrationHP:0025380
  • Increased urinary 11-deoxycorticosterone levelHP:0032330

Frequent (79-30%)(13)

  • AcneHP:0001061
  • Ambiguous genitalia, femaleHP:0000061
  • Clitoral hypertrophyHP:0008665
  • HirsutismHP:0001007
  • Hyperpigmentation of the skinHP:0000953
  • Increased circulating ACTH levelHP:0003154
  • Irregular menstruationHP:0000858
  • Isosexual precocious pubertyHP:0008236
  • Long penisHP:0000040
  • Precocious pubertyHP:0000826
  • Premature adrenarcheHP:0012412
  • Premature pubarcheHP:0012411
  • Short statureHP:0004322

Occasional (29-5%)(6)

  • AlopeciaHP:0001596
  • GynecomastiaHP:0000771
  • Increased serum testosterone levelHP:0030088
  • Polycystic ovariesHP:0000147
  • Renal salt wastingHP:0000127
  • Testicular adrenal rest tumorHP:0025451

Very rare (<4-1%)(2)

  • Intracranial hemorrhageHP:0002170
  • Premature thelarcheHP:0010314