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

Recruiting

• Conditions: Isolated central hypothyroidism; low thyroid hormone production caused by insufficient stimulation of the thyroid by the pituitary gland; 10014699

• Registration Number: NL-OMON45797
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 20

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

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

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>TH dependent signalling in hepatocytes carrying a mutation in the TBL1X gene.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Not applicable.</p><br>