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Isolated thyroid-stimulating hormone deficiency

ORPHA:90674 · Disease · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(7)

  • Abnormal circulating thyroglobulin concentrationHP:0025483
  • Decreased circulating T4 concentrationHP:0031507
  • Decreased thyroid-stimulating hormone levelHP:0031098
  • Increased pituitary glycoprotein hormone alpha subunit levelHP:0031208
  • Pituitary hypothyroidismHP:0008245
  • Reduced radioactive iodine uptakeHP:0031219
  • Thyroid hypoplasiaHP:0005990

Frequent (79-30%)(26)

  • Abnormal epiphysis morphologyHP:0005930
  • ConstipationHP:0002019
  • Delayed cranial suture closureHP:0000270
  • Delayed proximal femoral epiphyseal ossificationHP:0008828
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Dry skinHP:0000958
  • Facial edemaHP:0000282
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • Feeding difficulties in infancyHP:0008872
  • Growth delayHP:0001510
  • Hoarse cryHP:0001615
  • Hoarse voiceHP:0001609
  • HypercholesterolemiaHP:0003124
  • HyporeflexiaHP:0001265
  • HypothermiaHP:0002045
  • Increased circulating prolactin concentrationHP:0000870
  • Large posterior fontanelleHP:0004491
  • Large sella turcicaHP:0002690
  • MacroglossiaHP:0000158
  • MacroorchidismHP:0000053
  • Neonatal hyperbilirubinemiaHP:0003265
  • Neurodevelopmental delayHP:0012758
  • Prolonged neonatal jaundiceHP:0006579
  • Umbilical herniaHP:0001537

Occasional (29-5%)(5)

  • Attention deficit hyperactivity disorderHP:0007018
  • BradycardiaHP:0001662
  • ClumsinessHP:0002312
  • HypotoniaHP:0001252
  • LethargyHP:0001254

Very rare (<4-1%)(2)

  • DepressionHP:0000716
  • GoiterHP:0000853

Excluded (0%)(2)

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