Congenital hypothyroidism decreased function of the thyroid gland present at birth
Conditions
Interventions
None listed
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Male patients who are known to have with a pathogenic IGSF1 mutation 2. Female carriers who are known to have with a pathogenic IGSF1 mutation All eligible patients were previously tested for an IGSF1 mutation based on specific symptoms (familial central hypothyroidism) or based on susceptibility from pedigree analyses. The patients are familiar with their gene defect and have already received information from their physician about the possible implications of having this defect. Patients will be informed about the nature of this study by their treating physician. If they are interested in participating, the primary investigators will contact them by phone and send written information about the study details.
Exclusion criteria
Exclusion criteria: None.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 24-hour hormone profiles of: - Growth hormone - Follicle stimulating hormone - Luteinizing hormone - Thyroid stimulating hormone Potentially in a later analysis: - ACTH - Cortisol - Prolactin | — |
Secondary
| Measure | Time frame |
|---|---|
| Crosscorrelations between hormonal axes | — |
Countries
Netherlands
Outcome results
None listed