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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ORPHA:90794 · Disease · Disorder

HPO 表現型（共 56 項）

Very frequent (99-80%)(5)

  • Abnormal response to ACTH stimulation testHP:0031074
  • Decreased circulating cortisol levelHP:0008163
  • Elevated circulating 17-hydroxyprogesterone concentrationHP:0031213
  • Increased circulating androgen concentrationHP:0030348
  • Increased circulating progesteroneHP:0031216

Frequent (79-30%)(36)

  • Abnormal circulating dehydroepiandrosterone concentrationHP:0500022
  • Abnormal external genitalia morphologyHP:0000811
  • Abnormal ovarian physiologyHP:0031066
  • Abnormality of the menstrual cycleHP:0000140
  • Accelerated skeletal maturationHP:0005616
  • AcneHP:0001061
  • Clitoral hypertrophyHP:0008665
  • Decreased circulating aldosterone concentrationHP:0004319
  • Decreased fertilityHP:0000144
  • DehydrationHP:0001944
  • Elevated urinary epinephrine levelHP:0003639
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth abnormalityHP:0001507
  • HirsutismHP:0001007
  • Hyperactive renin-angiotensin systemHP:0000841
  • HyperkalemiaHP:0002153
  • Hyperkalemic metabolic acidosisHP:0005976
  • HypernatriuriaHP:0012605
  • HypocapniaHP:0012417
  • HypochloremiaHP:0003113
  • HyponatremiaHP:0002902
  • HypotensionHP:0002615
  • HypovolemiaHP:0011106
  • Increased circulating ACTH levelHP:0003154
  • Increased circulating androstenedione concentrationHP:0025380
  • Increased serum testosterone levelHP:0030088
  • Neonatal hypoglycemiaHP:0001998
  • OligomenorrheaHP:0000876
  • Premature fusion of the radial epiphyseal platesHP:0004012
  • Premature pubarcheHP:0012411
  • Primary adrenal insufficiencyHP:0008207
  • Renal salt wastingHP:0000127
  • Short statureHP:0004322
  • VomitingHP:0002013
  • Weight lossHP:0001824

Occasional (29-5%)(15)

  • Ambiguous genitaliaHP:0000062
  • Ambiguous genitalia, femaleHP:0000061
  • Aplasia of the uterusHP:0000151
  • Decreased testicular sizeHP:0008734
  • Frontal baldingHP:0002292
  • Fused labia majoraHP:0025486
  • Hypogonadotropic hypogonadismHP:0000044
  • Long penisHP:0000040
  • Precocious puberty in femalesHP:0010465
  • Premature adrenarcheHP:0012412
  • ShockHP:0031273
  • Spontaneous abortionHP:0005268
  • Tall statureHP:0000098
  • Testicular adrenal rest tumorHP:0025451
  • Urogenital sinus anomalyHP:0100779