9 results
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 perform gene mutation analysis in family members of patients carrying a proven mutation in the candidate gene.2) To determine the clinical, biochemical and radiological characteristics of carriers of a mutation in the candidate gene.3) To…
We will evaluate the acute effects of GH on, and its relation with, cognition in healthy subjects. The present proposal focuses on the following questions:1. Does an acute rise of plasma GH levels have a (beneficial) effect on cognitive performance…
To investigate if there are differences in serotonin transporters in the hypothalamus between subjects with hypopituitarism suspect for hypothalamic damage, subjects with hypopituitarism and no suspicion of hypothalamic damage and healthy age- and…
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.
To determine whether hypothalamic response to glucose ingestion in patients with anorexia nervosa differs from that in healthy subjects.
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…
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…
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…