hypothyroidism due to deficient transcription factors involved in pituitary development or function
Findings
No curated finding names hypothyroidism due to deficient transcription factors involved in pituitary development or function yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.
Definition from the Mondo Disease Ontology (MONDO:0016411), read 2026-09-29. CC BY 4.0.
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- Very frequent (80% to 99% of cases)
- Pituitary hypothyroidismHPOHP:0008245
- Very frequent (80% to 99% of cases)
- Reduced radioactive iodine uptakeHPOHP:0031219
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Frequent (30% to 79% of cases)
- Anterior pituitary hypoplasiaHPOHP:0010627
- Frequent (30% to 79% of cases)
- BradycardiaHPOHP:0001662
- Frequent (30% to 79% of cases)
Show the remaining 37
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- HypopituitarismHPOHP:0040075
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- HypothermiaHPOHP:0002045
- Frequent (30% to 79% of cases)
- Large posterior fontanelleHPOHP:0004491
- Frequent (30% to 79% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HESX1HGNC:4877
- Supportive · Orphanet · Autosomal dominant · 2021
- LHX3HGNC:6595
- Supportive · Orphanet · Autosomal dominant · 2021
- LHX4HGNC:21734
- Supportive · Orphanet · Autosomal dominant · 2021
- POU1F1HGNC:9210
- Supportive · Orphanet · Autosomal dominant · 2021
- PROP1HGNC:9455
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of