hypothyroidism due to deficient transcription factors involved in pituitary development or function
ORPHA: 226307
Available Treatments (0)
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Clinical Presentation
Signs and symptoms associated with hypothyroidism due to deficient transcription factors involved in pituitary development or function, sourced from HPO and Orphanet clinical annotations.
Pituitary hypothyroidismDecreased thyroid-stimulating hormone levelReduced radioactive iodine uptakeMacroglossiaDelayed cranial suture closureFacial edemaPanhypopituitarismLethargyHyporeflexiaGrowth delayUmbilical herniaBradycardiaConstipationHypothermiaLarge posterior fontanelleAbnormal epiphysis morphologyThyroid hypoplasiaProlonged neonatal jaundiceReduced circulating prolactin concentrationDelayed proximal femoral epiphyseal ossificationFeeding difficulties in infancyAnterior pituitary hypoplasiaFatigueNeurodevelopmental delayDecreased circulating T4 concentrationHypopituitarismHypogonadotropic hypogonadismSensorineural hearing impairmentShort neckOptic nerve hypoplasiaDecreased response to growth hormone stimulation testPituitary dwarfismHand polydactylyHypotoniaAgenesis of corpus callosumAbnormal cerebellum morphologyHypoglycemiaAbnormal facial shapeDecreased circulating ACTH concentrationDecreased cervical spine mobilityDepressed nasal bridgeShort fingerProminent foreheadEctopic posterior pituitaryMidface retrusionOverweightDecreased circulating follicle stimulating hormone concentrationDecreased circulating luteinizing hormone levelInappropriate antidiuretic hormone secretion
Classification & Codes
Orphanet Code
ORPHA:226307hypothyroidism due to deficient transcription factors involved in pituitary development or function
| Orphanet | ORPHA:226307 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO