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Primary hypergonadotropic hypogonadism-partial alopecia syndrome

ORPHA:2232 · Disease · Disorder

HPO 表現型（共 41 項）

Obligate (100%)(3)

  • Alopecia of scalpHP:0002293
  • Hypergonadotropic hypogonadismHP:0000815
  • Primary gonadal insufficiencyHP:0008193

Very frequent (99-80%)(24)

  • Abnormal eyebrow morphologyHP:0000534
  • Absence of secondary sex characteristicsHP:0008187
  • AgonadismHP:0008633
  • AlopeciaHP:0001596
  • Aplasia of the ovaryHP:0010463
  • Aplasia/hypoplasia of the uterusHP:0008684
  • Breast hypoplasiaHP:0003187
  • CryptorchidismHP:0000028
  • Decreased serum estradiolHP:0008214
  • Decreased serum testosterone concentrationHP:0040171
  • Delayed pubertyHP:0000823
  • Flat occiputHP:0005469
  • Growth delayHP:0001510
  • ImpotenceHP:0000802
  • Increased circulating gonadotropin levelHP:0000837
  • InfertilityHP:0000789
  • Marked delay in bone ageHP:0003799
  • Non-obstructive azoospermiaHP:0011961
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Primary amenorrheaHP:0000786
  • Sparse facial hairHP:0007464
  • Streak ovaryHP:0010464
  • Thin upper lip vermilionHP:0000219

Frequent (79-30%)(7)

  • KyphosisHP:0002808
  • Lumbar hyperlordosisHP:0002938
  • MicrocephalyHP:0000252
  • Mild intellectual disabilityHP:0001256
  • Skeletal dysplasiaHP:0002652
  • Sparse eyebrowHP:0045075
  • Sparse pubic hairHP:0002225

Occasional (29-5%)(7)

  • Contracture of the proximal interphalangeal joint of the 5th fingerHP:0009185
  • Decreased palmar creasesHP:0006184
  • Hearing impairmentHP:0000365
  • Small hypothenar eminenceHP:0010487
  • Small pituitary glandHP:0012506
  • Thenar muscle atrophyHP:0003393
  • Triphalangeal thumbHP:0001199