Do mutations in the TBL1X gene alter sensitivity to thyroid hormone?

Do mutations in the TBL1X gene alter sensitivity to thyroid hormone? - Mutations inTBL1X and sensitivity to thyroid hormone

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON45797

Enrollment

Registered

2018-11-14

Start date

2019-05-13

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Isolated central hypothyroidism

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Isolated central hypothyroidism (low serum FT4, normal TSH concentration) caused by a mutation in the TBL1X gene, First- or second-degree relative of a patient with central hypothyroidism caused by a mutation in the TBL1X gene, NOT carrying a TBL1X mutation.

Exclusion criteria

Exclusion criteria: Carriers of other genetic defects known to cause isolated central hypothyroidism.

Design outcomes

Primary

Measure	Time frame
TH dependent signalling in hepatocytes carrying a mutation in the TBL1X gene.	—

Secondary

Measure	Time frame
Not applicable.	—

Countries

Netherlands

Outcome results