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Hypothyroidism due to deficient transcription factors involved in pituitary development or function

ORPHA:226307 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(3)

  • Decreased thyroid-stimulating hormone levelHP:0031098
  • Pituitary hypothyroidismHP:0008245
  • Reduced radioactive iodine uptakeHP:0031219

Frequent (79-30%)(23)

  • Abnormal epiphysis morphologyHP:0005930
  • Anterior pituitary hypoplasiaHP:0010627
  • BradycardiaHP:0001662
  • ConstipationHP:0002019
  • Decreased circulating T4 concentrationHP:0031507
  • Delayed cranial suture closureHP:0000270
  • Delayed proximal femoral epiphyseal ossificationHP:0008828
  • Facial edemaHP:0000282
  • FatigueHP:0012378
  • Feeding difficulties in infancyHP:0008872
  • Growth delayHP:0001510
  • HypopituitarismHP:0040075
  • HyporeflexiaHP:0001265
  • HypothermiaHP:0002045
  • Large posterior fontanelleHP:0004491
  • LethargyHP:0001254
  • MacroglossiaHP:0000158
  • Neurodevelopmental delayHP:0012758
  • PanhypopituitarismHP:0000871
  • Prolonged neonatal jaundiceHP:0006579
  • Reduced circulating prolactin concentrationHP:0008202
  • Thyroid hypoplasiaHP:0005990
  • Umbilical herniaHP:0001537

Occasional (29-5%)(23)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal facial shapeHP:0001999
  • Agenesis of corpus callosumHP:0001274
  • Decreased cervical spine mobilityHP:0004637
  • Decreased circulating ACTH concentrationHP:0002920
  • Decreased circulating follicle stimulating hormone concentrationHP:0030341
  • Decreased circulating luteinizing hormone levelHP:0030344
  • Decreased response to growth hormone stimulation testHP:0000824
  • Depressed nasal bridgeHP:0005280
  • Ectopic posterior pituitaryHP:0011755
  • Hand polydactylyHP:0001161
  • HypoglycemiaHP:0001943
  • Hypogonadotropic hypogonadismHP:0000044
  • HypotoniaHP:0001252
  • Inappropriate antidiuretic hormone secretionHP:0031218
  • Midface retrusionHP:0011800
  • Optic nerve hypoplasiaHP:0000609
  • OverweightHP:0025502
  • Pituitary dwarfismHP:0000839
  • Prominent foreheadHP:0011220
  • Sensorineural hearing impairmentHP:0000407
  • Short fingerHP:0009381
  • Short neckHP:0000470

Excluded (0%)(2)

  • Abnormal circulating thyroglobulin concentrationHP:0025483
  • Maternal autoimmune diseaseHP:0011437