5 results
Primary objective1) To study the frequency of mutations in this gene in patients with central hypothyroidism and their first- and second-degree relativesSecondary objective: 2) To determine the clinical, biochemical and radiological consequences of…
To study the effects of transient severe endogenous stress hormone exposure on the structure and functioning of brains circuitry regulating emotion, and the association with cognition and psychopathological symptoms.
This is a protocol aimed at standardizing clinical care and the diagnostic approach in a carrier of a pathogenic IGSF1 mutation referred for hormonal analysis to the outpatient clinic.
1. To establish reference intervals for thyroid hormones in plasma at the time of the neonatal screening (day 3-7 of life).2. To establish reference intervals for thyroid hormones in plasma around the 14th day of life.3. To compare the…
The aim of this study is to determine whether this smart wristband can actually support patients and their parents in managing the consequences of hypothalamic dysfunction. We will investigate what kind of support patients, parents, or caregivers…