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hypothyroidism, congenital, nongoitrous, 8 (CHNG8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypothyroidism, congenital, nongoitrous, 8

MONDO:0026731

Also known as:CHNG8

Overview

GeneticsX-linked · TBL1X (chr X)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Decreased circulating free T4 concentration. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	3	Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyroidism

Genetic Landscape

TBL1X function has not been fully characterized.

Hypothyroidism, congenital, nongoitrous, 8 is associated with mutations in the TBL1X gene on chromosome X.

Diagnosis

Genetic testing for TBL1X is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypothyroidism, congenital, nongoitrous, 8.

1 publication has been identified in PubMed for hypothyroidism, congenital, nongoitrous, 8. Research spans Basic Science / Preclinical (100%).

Recent Publications

Narumi S (2024). [PMID: 39506342](https://pubmed.ncbi.nlm.nih.gov/39506342/). *Annals of pediatric endocrinology & metabolism*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301033

Questions for Your Care Team

→Should female family members consider carrier screening for TBL1X?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypothyroidism, congenital, nongoitrous, 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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