Thyroid dyshormonogenesis
ICD-10: E07.1MeSH: C564766ORPHA: 95716
Overview
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Thyroid dyshormonogenesis, sourced from HPO and Orphanet clinical annotations.
Neurodevelopmental delayMacroglossiaFacial edemaIntellectual disabilityHypotoniaLethargyHyporeflexiaBradycardiaHypothermiaNeonatal hyperbilirubinemiaDepressed nasal bridgePositive perchlorate discharge testAbnormal circulating thyroglobulin concentrationReduced radioactive iodine uptakeIncreased radioactive iodine uptakeSensorineural hearing impairmentElevated circulating thyroid-stimulating hormone concentrationDecreased circulating T4 concentrationDelayed cranial suture closureCongenital hypothyroidismGoiterUmbilical herniaConstipationLarge posterior fontanelleAbnormal epiphysis morphologyProlonged neonatal jaundiceThyroid defect in oxidation and organification of iodideDelayed proximal femoral epiphyseal ossificationFeeding difficulties in infancy
Classification & Codes
ICD-10 Code
E07.1MeSH Code
C564766Orphanet Code
ORPHA:95716Thyroid dyshormonogenesis
| ICD-10 | E07.1 |
| MeSH | C564766 |
| Orphanet | ORPHA:95716 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO