isolated thyroid-stimulating hormone deficiency
Findings
No curated finding names isolated thyroid-stimulating hormone deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
Definition from the Mondo Disease Ontology (MONDO:0010139), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
45 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 circulating T4 concentrationHPOHP:0031507
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- HypothyroidismHPOHP:0000821
- 3 of 3 reported patients
- Abnormal circulating thyroglobulin concentrationHPOHP:0025483
- Very frequent (80% to 99% of cases)
- Increased pituitary glycoprotein hormone alpha subunit levelHPOHP:0031208
- Very frequent (80% to 99% of cases)
- Pituitary hypothyroidismHPOHP:0008245
Show the remaining 33
- Abnormal epiphysis morphologyHPOHP:0005930
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Frequent (30% to 79% of cases)
- Delayed proximal femoral epiphyseal ossificationHPOHP:0008828
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- 1 of 3 reported patients
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.
- TSHBHGNC:12372
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: isolated thyroid-stimulating hormone deficiency
- Also called
- CHNG4hypothyroidism, congenital, nongoitrous 4hypothyroidism, congenital, nongoitrous, type 4isolated thyrotropin deficiencyisolated TSH deficiency