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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.
Features include always present findings: Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, and Hypothyroidism; and very common findings: Thyroid hypoplasia, Pituitary hypothyroidism, Abnormal circulating thyroglobulin concentration, and Increased pituitary glycoprotein hormone alpha subunit level and others. 48 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Depressed nasal bridge, Severe intellectual disability, Intellectual disability |
Hormones | 5 | Decreased thyroid-stimulating hormone level, Hypothyroidism, Thyroid hypoplasia |
Digestive system | 4 | Feeding difficulties, Constipation, Prolonged neonatal jaundice |
Lab test results | 3 | Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Neonatal hyperbilirubinemia |
Growth and development | 3 | Severe postnatal growth retardation, Failure to thrive, Growth delay |
Bones and joints | 2 | Delayed skeletal maturation, Delayed proximal femoral epiphyseal ossification |
Pregnancy and birth | 2 | Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
Muscles | 1 | Low muscle tone (hypotonia) |
Skin | 1 | Dry skin |
Head and neck | 1 | Facial edema |
Heart and blood vessels | 1 | Bradycardia |
TSHB function has not been fully characterized.
Isolated thyroid-stimulating hormone deficiency is associated with mutations in the TSHB gene on chromosome 1.
Genetic testing for TSHB is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 5 very common features, 29 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for isolated thyroid-stimulating hormone deficiency.
3 publications have been identified in PubMed for isolated thyroid-stimulating hormone deficiency. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).
Peters C (2026). [PMID: 42048107](https://pubmed.ncbi.nlm.nih.gov/42048107/). *Eur Thyroid J*. [Epidemiology / Natural History]
Saheki T (2026). [PMID: 42270397](https://pubmed.ncbi.nlm.nih.gov/42270397/). *Intern Med*. [Case Report / Case Series]
Roisman-Geller N (2024). [PMID: 39000439](https://pubmed.ncbi.nlm.nih.gov/39000439/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Oct 4, 2026, 3:01 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center