An observational study in Congenital Adrenal Hyperplasia, sponsored by Region Stockholm. Status unknown at 1 site in Sweden. Open to participants aged 16 Years to 65 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2022-01-11.
Sponsored by Region Stockholm · Observational
Individuals with CAH produce lower levels of epinephrine (adrenalin) than controls. This can be correlated to the CYP21A2 genotype and is most pronounced in the classic forms. Individuals with CAH have an increased risk of developing hypoglycemia because both cortisol and epinephrine are important counter regulatory hormones. Stress dosing is essential in situations of increased physical stress such as infections with fever for example.
Glucocorticoid treatment and stress dosing cannot compensate fully during physical stress neither for the reaction to psychological stress. This may render various types of difficulties in the individual's life.
We aim to investigate if the deficient epinephrine production can be confirmed and if it is related to the increased level of anxiety and vulnerability to stress that we observe in the patients.
Specific aims of the study:
After written informed consent study subjects, patients and controls, are invited to fill in a web based survey with the validated questionnaires. A link to the survey, expected to take 30 - 60 minutes to complete, is mailed to to the subjects . A subgroup of study subjects are invited to perform an ergo-spirometri test followed by the exercise test at the hospital. They are asked not to eat for 6 hours or drink any coffe during the day before the test. A venous catheter is used for blood sampling during the exercise. ECG, an orthostatic blood pressure test and a the ergo-spirometry test are performed before the subject is asked to do the exercise test, a cycling maximum test. Blood glucose, lactate, are followed every 4 minutes. Adrenal androgens, cortisol, insulin and methoxy-catecholamine are measured before and when the subject has reached maximum effort load and the test is ended.
The physical capacity, orthostatic blood pressure and the blood test results are related to the severity of CAH and to the maximum level of methoxy-cathecholamine produced by each individual. In the larger group of individuals, not taking part in the exercise test but completing the survey the genotype is correlated to the questionnaire results.
107 studies on the registry are indexed under Adrenal Hyperplasia, Congenital; 29 are open to participants now.
This study's planned enrollment of 120 is above the median of 60 across 45 observational studies indexed under Adrenal Hyperplasia, Congenital.
Browse Adrenal Hyperplasia, Congenital studies →Region Stockholm is the lead sponsor of 119 studies on the registry; 70 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Men and women with congenital adrenal hyperplasia due to 21-hydroxylase deficienc. Sex and age matched controls.
Exclusion Criteria:
Patients with 21-hydroxylase deficiency, salt wasting form.
Diagnostic Test: physical exercise as a standardized high intensity exercise test · Behavioral: Stress vulnerability
Patients with 21-hydroxylase deficiency, simple virilising form.
Diagnostic Test: physical exercise as a standardized high intensity exercise test · Behavioral: Stress vulnerability
Patients with 21-hydroxylase deficiency, non-classic form.
Diagnostic Test: physical exercise as a standardized high intensity exercise test · Behavioral: Stress vulnerability
Healthy individuals, heterozygous carriers a mutation in the CYP21A2 gene. Recruited among parents of patients with CAH.
Diagnostic Test: physical exercise as a standardized high intensity exercise test · Behavioral: Stress vulnerability
Healthy sex and age matched controls
Diagnostic Test: physical exercise as a standardized high intensity exercise test · Behavioral: Stress vulnerability
High intensity exercise test, cycling, performed at the Karolinska University Hospital
Web based survey of validated psychological questionnaires measuring fatigue (MFS), exhaustion disorder (KEDS), anxiety (LSAS-SR, HADS), depression (HADS), and Karolinska sleep questionnaire
Also known as: Validated questionnaires
epinephrine level
Measured methoxy-catecholamine at maximum exercise test, cycling test.
Time frame: 2022 December 31
Hospital Anxiety Depression Scale
stress vulnerability
Time frame: 2022 December 31
Mental Fatigue scale
stress vulnerability
Time frame: 2022 December 31
Liebowitz anxiety scale
stress vulnerability
Time frame: 2022 December 31
Karolinska Exhaustion disorder scale
stress vulnerability
Time frame: 2022 December 31
sleep questionnaire
stress vulnerability
Time frame: 2022 December 31
Orthostatic blood pressure
Blood pressure measured lying down and standing for 10 minutes
Time frame: 2022 December 31
CYP21A2 genotype
mutation analysis
Time frame: 2022 December 31
This study is status unknown, as verified in Dec 2021. You cannot join it, but the record below documents what was studied.
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Adrenal Hyperplasia, Congenital→
Region Stockholm