Dr Nicole Reisch, Dr Richard Auchus, “Prospective long-term follow-up of hypothalamus-pituitary-gonadal (HPG) axis in males with CAH”, 100 000 €

Many males with 21-hydroxylase deficiency develop benign tumours in their testis originating from adrenal tissue compromising their fertility. This project will test the significance of novel biomarkers for the prediction of changes of testicular function in a prospective follow-up study. In the future, these biomarkers may thus allow preventive optimisation of therapy.

Dr Claudia Boettcher,  “Oral contraceptives in female adolescents with CAH: impact on the metabolome, and a way to optimize treatment with respect to androgen excess?”, 75 000 €

The genetically determined disorder “congenital adrenal hyperplasia” (CAH) leads to impaired steroid metabolism of the adrenal glands. The most common form of CAH is called 21-hydroxylase-deficiency. It leads to a lack of the vital steroid hormone cortisol. In an – unsuccessful – attempt to still produce cortisol, so called androgens (“male” hormones) are produced unwantedly and excessively. Todays’ CAH therapy principle is “to replace the missing hormones”, i.e. lifelong administration of cortisol, to prevent life-threatening adrenal crisis, reduce androgen excess and simultaneously avoiding cortisol overdosage. Cortisol overdosage can be harmful over time. With our study, we aim to investigate whether adding the “pill” (oral contraceptive) to the therapy of young women with CAH stabilizes their metabolic state. Our hypotheses are that the pill will lower androgen levels in blood/urine and therefore allows a reduction of cortisol treatment. We would like to examine young women (age 13-25 years) affected by CAH before, and three as well as six months after introduction of the pill, and analyse blood/urine samples at the corresponding points in time. Verification of our hypotheses could lead to an optimized therapy with reduced dosage of cortisol for female adolescent patients with CAH.

Dr Anna Nordenström, “Effects and importance of adrenalin deficiency in CAH”, 75 000 €

Patients with CAH have cortisol deficiency, one of the stress hormones produced in the adrenals. Less known is the fact that CAH also causes deficiency of epinephrine, another stress hormone, important in acute situations. Individuals with CAH are more vulnerable to stress and anxiety. We want to investigate if the inability to produce epinephrine can explain this finding. Validated questionnaires assessing anxiety, stress vulnerability, depression and fatigue will be used. The results will be correlated to the patients’ ability to produce epinephrine, both as 24-hour urinary measurements and during a physical exercise test. If the degree of epinephrine deficiency can explain some of the symptoms in the patients’ daily lives, strategies to overcome this can be developed, in addition to the glucocorticoid treatment in stressful situations.