NL-OMON45797RecruitingNot Applicable
Do mutations in the TBL1X gene alter sensitivity to thyroid hormone? - Mutations inTBL1X and sensitivity to thyroid hormone
Conditions
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Academisch Medisch Centrum
- Enrollment
- 20
Study Overview
Brief Summary
No summary available.
Study Design
- Study Type
- Observational
Eligibility Criteria
- Ages
- 2 to 99 (—)
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.
Investigators
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