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Hypothyroidism due to TSH receptor mutations

ORPHA:90673 · Disease · Disorder

HPO 表現型（共 28 項）

Obligate (100%)(1)

  • Impaired sensitivity to thyroid stimulating hormoneHP:0011789

Very frequent (99-80%)(2)

  • Congenital hypothyroidismHP:0000851
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925

Frequent (79-30%)(4)

  • Decreased circulating T4 concentrationHP:0031507
  • Elevated circulating thyroglobulin concentrationHP:0025484
  • Prolonged neonatal jaundiceHP:0006579
  • Reduced radioactive iodine uptakeHP:0031219

Occasional (29-5%)(15)

  • Abnormal cryHP:0025429
  • Abnormal epiphysis morphologyHP:0005930
  • BradycardiaHP:0001662
  • Compensated hypothyroidismHP:0008223
  • ConstipationHP:0002019
  • Delayed proximal femoral epiphyseal ossificationHP:0008828
  • Feeding difficulties in infancyHP:0008872
  • HyporeflexiaHP:0001265
  • Increased radioactive iodine uptakeHP:0031220
  • Large posterior fontanelleHP:0004491
  • LethargyHP:0001254
  • MacroglossiaHP:0000158
  • Neonatal hyperbilirubinemiaHP:0003265
  • Thyroid hypoplasiaHP:0005990
  • Umbilical herniaHP:0001537

Very rare (<4-1%)(3)

  • EdemaHP:0000969
  • HypothermiaHP:0002045
  • HypotoniaHP:0001252

Excluded (0%)(3)

  • Autoimmune antibody positivityHP:0030057
  • GoiterHP:0000853
  • Maternal autoimmune diseaseHP:0011437