Thyroid hormone receptor alpha 1 deficiency
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: For patient: - Known carrier of inactivating thyroid hormone receptor alpha1 mutation - Aged *18 - Willing and able to provide signed informed consent prior to study-related procedures.;For healthy controls: - Aged *18 - Willing and able to provide signed informed consent prior to study-related procedures.
Exclusion criteria
Exclusion criteria: Healthy controls: - Fever or other symptoms of infection during the past 7 days. - Use of medication that could affect haematological parameters or leukocyte function as specified by the Farmacotherapeutisch Kompas (http://www.fk.cvz.nl)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main study parameters/endpoints: * Neutrophil and macrophage function prior to and following levothyroxine treatment * Erythropoiesis function * Thyroid hormone target gene expression levels prior to and following levothyroxine treatment * Plasma metabolome prior to and following levothyroxine treatment | — |
Secondary
| Measure | Time frame |
|---|---|
| n.a. | — |
Countries
Netherlands