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X-linked adrenal hypoplasia congenita

ORPHA:95702 · Disease · Disorder

HPO 表現型（共 24 項）

Obligate (100%)(1)

  • Increased circulating ACTH levelHP:0003154

Very frequent (99-80%)(2)

  • Decreased circulating cortisol levelHP:0008163
  • Hyperpigmentation of the skinHP:0000953

Frequent (79-30%)(18)

  • Adrenocortical cytomegalyHP:0008186
  • Decreased circulating luteinizing hormone levelHP:0030344
  • Decreased libidoHP:0046504
  • Decreased serum testosterone concentrationHP:0040171
  • Decreased testicular sizeHP:0008734
  • Delayed pubertyHP:0000823
  • DiarrheaHP:0002014
  • Erectile dysfunctionHP:0100639
  • Failure to thrive in infancyHP:0001531
  • FatigueHP:0012378
  • HyperkalemiaHP:0002153
  • Hypogonadotropic hypogonadismHP:0000044
  • HyponatremiaHP:0002902
  • NauseaHP:0002018
  • OligozoospermiaHP:0000798
  • Primary adrenal insufficiencyHP:0008207
  • VertigoHP:0002321
  • VomitingHP:0002013

Occasional (29-5%)(3)

  • SeizureHP:0001250
  • Sparse pubic hairHP:0002225
  • Weight lossHP:0001824