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46,XX gonadal dysgenesis

ORPHA:243 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Obligate (100%)(2)

  • Gonadal dysgenesisHP:0000133
  • Premature ovarian insufficiencyHP:0008209

Very frequent (99-80%)(6)

  • Abnormality of secondary sexual hairHP:0009888
  • Decreased fertilityHP:0000144
  • Decreased serum estradiolHP:0008214
  • Delayed pubertyHP:0000823
  • Increased circulating gonadotropin levelHP:0000837
  • Primary amenorrheaHP:0000786

Frequent (79-30%)(8)

  • Aplasia/Hypoplasia of the breastsHP:0010311
  • Aplasia/hypoplasia of the uterusHP:0008684
  • Delayed skeletal maturationHP:0002750
  • OsteopeniaHP:0000938
  • Osteoporosis of vertebraeHP:0005625
  • Reduced bone mineral densityHP:0004349
  • Sparse pubic hairHP:0002225
  • Streak ovaryHP:0010464

Occasional (29-5%)(4)

  • Abnormality of metabolism/homeostasisHP:0001939
  • Hearing impairmentHP:0000365
  • Secondary amenorrheaHP:0000869
  • Short statureHP:0004322

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

  • ArachnodactylyHP:0001166
  • AtaxiaHP:0001251
  • MicrocephalyHP:0000252
  • Pulmonary fibrosisHP:0002206

Excluded (0%)(1)

  • Ambiguous genitaliaHP:0000062