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46,XY difference of sex development due to isolated 17,20-lyase deficiency

ORPHA:90796 · Disease · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(24)

  • Abnormal circulating corticosterone levelHP:0012112
  • Absence of secondary sex characteristicsHP:0008187
  • Decreased circulating androgen concentrationHP:0030349
  • Decreased fertilityHP:0000144
  • Decreased serum estradiolHP:0008214
  • Decreased serum testosterone concentrationHP:0040171
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • DysmenorrheaHP:0100607
  • Elevated circulating follicle stimulating hormone levelHP:0008232
  • Elevated circulating luteinizing hormone levelHP:0011969
  • Enlarged polycystic ovariesHP:0008675
  • Hypergonadotropic hypogonadismHP:0000815
  • Hypoplasia of the uterusHP:0000013
  • HypospadiasHP:0000047
  • MicropenisHP:0000054
  • OsteoporosisHP:0000939
  • Polycystic ovariesHP:0000147
  • Primary amenorrheaHP:0000786
  • Primary gonadal insufficiencyHP:0008193
  • Reduced bone mineral densityHP:0004349
  • Sparse axillary hairHP:0002215
  • Sparse body hairHP:0002231
  • Sparse pubic hairHP:0002225

Frequent (79-30%)(6)

  • CryptorchidismHP:0000028
  • Decreased fertility in femalesHP:0000868
  • Decreased fertility in malesHP:0012041
  • Decreased testicular sizeHP:0008734
  • Hypoplasia of the vaginaHP:0008726
  • Short statureHP:0004322

Occasional (29-5%)(6)

  • Abnormal sex determinationHP:0012244
  • Ambiguous genitalia, maleHP:0000033
  • Failure to thriveHP:0001508
  • Female external genitalia in individual with 46,XY karyotypeHP:0008730
  • GynecomastiaHP:0000771
  • Male pseudohermaphroditismHP:0000037