hypothyroidism due to TSH receptor mutations
Findings
No curated finding names hypothyroidism due to TSH receptor mutations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
Definition from the Mondo Disease Ontology (MONDO:0010142), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 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.
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 3 of 3 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Impaired sensitivity to thyroid stimulating hormoneHPOHP:0011789
- Obligate (100% of cases)
- Congenital hypothyroidismHPOHP:0000851
- Very frequent (80% to 99% of cases)
- Decreased circulating T4 concentrationHPOHP:0031507
- Frequent (30% to 79% of cases)
- Elevated circulating thyroglobulin concentrationHPOHP:0025484
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Frequent (30% to 79% of cases)
Show the remaining 15
- Delayed proximal femoral epiphyseal ossificationHPOHP:0008828
- Occasional (5% to 29% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
- HyporeflexiaHPOHP:0001265
- Occasional (5% to 29% of cases)
- Increased radioactive iodine uptakeHPOHP:0031220
- Occasional (5% to 29% of cases)
- Large posterior fontanelleHPOHP:0004491
- Occasional (5% to 29% of cases)
- LethargyHPOHP:0001254
- Occasional (5% to 29% of cases)
Genes
1 gene
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.
- TSHRHGNC:12373
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: hypothyroidism due to TSH receptor mutations
- Also called
- CHNG1hypothyroidism, congenital, nongoitrous, type 1TSH resistance