Congenital adrenal hyperplasia: about causes and consequences.

Manon Engels – Radboud University Nijmegen (2018)

Congenital adrenal hyperplasia (CAH) is a rare congenital disease which leads to abnormalities in the hormone production of the adrenal cortex. Low concentrations of the stress hormone cortisol and often also aldosterone are found, while excessive amounts of male hormones (androgens) are produced. Hormone precursors also accumulate. In this thesis, we studied some consequences of CAH. We showed that hormone precursors are able to partially compensate for the cortisol deficiency in patients with CAH, which explains the lack of clinical signs of cortisol deficiency observed in CAH patients. We also showed that about 40% of the male patients with CAH have benign testicular tumors (TART) which can cause infertility. Furthermore, we showed that male patients with CAH rate their quality of life as good and that this was similar to healthy reference populations.

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Manon Engels (1991) graduated in 2014 from Radboud University Nijmegen (Master’s degree in Biomedical Sciences). From January 2015 on, she carried out the above doctoral research at the department of Pediatrics and the department of Laboratory Medicine, within the Radboud Institute of Molecular Life Sciences (RIMLS).